Publikationen

DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation.
Rolles B, Meyer R, Begemann M, Elbracht M, Jost E, Stelljes M, Kurth I, Brümmendorf TH, Silling G. DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation. Blood Cancer J. 2023 May 10;13(1):73. doi: 10.1038/s41408-023-00846-2. PMID: 37160870; PMCID: PMC10170132.

Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco.
Mattern L, Begemann M, Delbrück H, Holschbach P, Schröder S, Schacht SM, Kurth I, Elbracht M. Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco. Bone Rep. 2023 May 4;18:101683. doi: 10.1016/j.bonr.2023.101683. PMID: 37214758; PMCID: PMC10193157.

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W Junior, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I. Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. Brain. 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328. PMID: 37769650; PMCID: PMC10689924.

Genetics of nonlesional focal epilepsy in adults and surgical implications.
Karge, R., Knopp, C., Weber, Y. et al. Genetics of nonlesional focal epilepsy in adults and surgical implications. Clin Epileptol 36, 91-97 (2023). doi: 10.1007/s10309-023-00568-2

Molecular characterisation of 36 multilocus imprinting disturbance (MUD) patients: a comprehensive approach.
Bilo L, Ochoa E, Lee S, Dey D, Kurth I, Kraft F, Rodger F, Docquier F, Toribio A, Bottolo L, Binder G, Fekete G, Elbracht M, Maher ER, Begemann M, Eggermann T. Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach. Clin Epigenetics. 2023 Mar 1;15(1):35. doi: 10.1186/s13148-023-01453-5. PMID: 36859312; PMCID: PMC9979536.

Telomere biology disorders may manifest as common variable immunodeficiency (CVID).'
Rolles B, Caballero-Oteyza A, Proietti M, Goldacker S, Warnatz K, Camacho-Ordonez N, Prader S, Schmid JP, Vieri M, Isfort S, Meyer R, Kirschner M, Brümmendorf TH, Beier F, Grimbacher B. Telomere biology disorders may manifest as common variable immunodeficiency (CVID). Clin Immunol. 2023 Dec;257:109837. doi: 10.1016/j.clim.2023.109837. Epub 2023 Nov 8. PMID: 37944684.

EphrinA5 regulates cell motility by modulating Snhg15/DNA triplex-dependent targeting of DNMT1 to the Ncam1 promoter.
Yildiz CB, Kundu T, Gehrmann J, Koesling J, Ravaei A, Wolff P, Kraft F, Maié T, Jakovcevski M, Pensold D, Zimmermann O, Rossetti G, Costa IG, Zimmer-Bensch G. EphrinA5 regulates cell motility by modulating Snhg15/DNA triplex-dependent targeting of DNMT1 to the Ncam1 promoter. Epigenetics Chromatin. 2023 Oct 26;16(1):42. doi: 10.1186/s13072-023-00516-4. PMID: 37880732; PMCID: PMC10601256.

ADGRL 1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and in a mouse model with altered synaptic activity.
Vitobello A, Mazel B, Lelianova VG, Zangrandi A, Petitto E, Suckling J, Salpietro V, Meyer R, Elbracht M, Kurth I, Eggermann T, Benlaouer O, Lall G, Tonevitsky AG, Scott DA, Chan KM, Rosenfeld JA, Nambot S, Safraou H, Bruel AL, Denommé-Pichon AS, Tran Mau-Them F, Philippe C, Duffourd Y, Guo H, Petersen AK, Granger L, Crunk A, Bayat A, Striano P, Zara F, Scala M, Thomas Q, Delahaye A, de Sainte Agathe JM, Buratti J, Kozlov SV, Faivre L, Thauvin-Robinet C, Ushkaryov Y. ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model. Am J Hum Genet. 2022 Aug 4;109(8):1436-1457. doi: 10.1016/j.ajhg.2022.06.011. Epub 2022 Jul 30. PMID: 35907405; PMCID: PMC9388395.

Future directions in molecular genetic diagnostics and management in patients with Silver-Russell syndrome features.
Eggermann T, Elbracht M, Eggermann K, Begemann M. Eur J Hum Genet 2023; 31 Suppl 1(): 228-229.

Mosaic collagen 6-related myopathy mimicking a hemihypotrophy syndrome.
Elbracht M, Lischka A, Nikolin S, Weis J, Kurth I, Eggermann K. Eur J Hum Genet 2023; 31 Suppl 1(): 503-504.

Phenotypic expansion of SPATA5 associated neurodevelopmental disorder and natural history of this condition in adulthood.
Knopp, C; Elbracht, M; May, R; Lausberg, E; Schulz, J; Kurth, I; Maier, A. Eur J Hum Genet 2023; 31 Suppl 1(): 202-203.

Single cell, whole embryo phenotyping of pleiotropic disorders of mammalian development
Henck J, Huang XF, Qiu CX, Sreenivasan V, Ulferts S, Behncke R, Hansmeier N, Haegerling R, Despang A, lbrahim D, Ringel A, Robson M, Wittler L, Kalscheuer V, Kornak U, Haag N, Kurth I, Chan WL, Beier D, Saunders L, Trapnell C, Dickei D, Visel A, Pennacchio L, Cao JY, Shendure J, Spielmann M. Eur J Hum Genet 2023; 31 Suppl 1 (): 3-4.

Unusual phenotypes in patients with a pathogenic germline variant in DICER1
Venger K, Elbracht M, Carlens J, Deutz P, Zeppernick F, Lassay L, Kratz C, Zenker M, Kim J, Stewart DR, Wieland I, Schultz KAP, Schwerk N, Kurth I, Kontny U. Unusual phenotypes in patients with a pathogenic germline variant in DICER1. Fam Cancer. 2023 Oct;22(4):475-480. doi: 10.1007/s10689-021-00271-z. Epub 2021 Jul 31. PMID: 34331184; PMCID: PMC9743360.

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.
Kampmeier A, Leitão E, Parenti I, Beygo J, Depienne C, Bramswig NC, Hsieh TC, Afenjar A, Beck-Wödl S, Grasshoff U, Haack TB, Bijlsma EK, Ruivenkamp C, Lausberg E, Elbracht M, Haanpää MK, Koillinen H, Heinrich U, Rost I, Jamra RA, Popp D, Koch-Hogrebe M, Rostasy K, López-González V, Sanchez-Soler MJ, Macedo C, Schmetz A, Steinborn C, Weidensee S, Lesmann H, Marbach F, Caro P, Schaaf CP, Krawitz P, Wieczorek D, Kaiser FJ, Kuechler A. PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals. Front Cell Dev Biol. 2023 Jan 16;10:1020609. doi: 10.3389/fcell.2022.1020609. PMID: 36726590; PMCID: PMC9886139.

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Lin SJ, Vona B, Lau T, Huang K, Zaki MS, Aldeen HS, Karimiani EG, Rocca C, Noureldeen MM, Saad AK, Petree C, Bartolomaeus T, Abou Jamra R, Zifarelli G, Gotkhindikar A, Wentzensen IM, Liao M, Cork EE, Varshney P, Hashemi N, Mohammadi MH, Rad A, Neira J, Toosi MB, Knopp C, Kurth I, Challman TD, Smith R, Abdalla A, Haaf T, Suri M, Joshi M, Chung WK, Moreno-De-Luca A, Houlden H, Maroofian R, Varshney GK. Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity. Genome Med. 2023 Nov 29;15(1):102. doi: 10.1186/s13073-023-01258-4. PMID: 38031187; PMCID: PMC10688095.

ldentification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria.
Tometten M, Kirschner M, Meyer R, Begemann M, Halfmeyer I, Vieri M, Kricheldorf K, Maurer A, Platzbecker U, Radsak M, Schafhausen P, Corbacioglu S, Höchsmann B, Matthias Wilk C, Hinze C, Chromik J, Heuser M, Kreuter M, Koschmieder S, Panse J, Isfort S, Kurth I, Brümmendorf TH, Beier F. Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria. Hemasphere. 2023 Apr 20;7(5):e874. doi: 10.1097/HS9.0000000000000874. PMID: 37096215; PMCID: PMC10121438.

A girl with ROHHAD syndrome - a rare cause of rapid-onset obesity and hypothalamic dysfunction.
Galcheva S, Hachmeriyan M, Krumova D, Georgiev R, Dancheva Z, Begemann M, Eggermann T, lotova V. Horm Res Paediatr 2023; 96 Suppl 4(): 255-255.

lmportance of interdisciplinarity in modern oncology: results of a national intergroup survey of the Young Oncologists United (YOU).
Mäurer M, Staudacher J, Meyer R, Mäurer 1, Lazaridis L, Müther M, Huber T, Sommer NP, Fleischmann DF, Käsmann L, Ziegler S, Kropf-Sanchen C, Wikert J, Pietzner K, Holzgreve A, Nestler T, Siech C, Sturm MJ, Sulzer S, Heinrich K, Stahler A, Young Oncologists United (YOU). J Cancer Res Clin Oncol 2023; 149(12): 10075-10084.

Recurrent small deletions in KCNQ1OT1 : a challenge for pathogenicity prediction.
Eggermann T. Recurrent small deletions in KCNQ1OT1: a challenge for pathogenicity prediction. J Med Genet. 2023 Feb;60(2):131-133. doi: 10.1136/jmedgenet-2022-108625. Epub 2022 Jun 30. PMID: 35772846.

Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.
Kleinle S, Scholz V, Benet-Pagés A, Wohlfrom T, Gehling S, Scharf F, Rost S, Prott EC, Grinzinger S, Hotter A, Haug V, Niemeier S, Wiethoff-Ubrig L, Hagenacker T, Goldhahn K, von Moers A, Walter MC, Reilich P, Eggermann K, Kraft F, Kurth I, Erdmann H, Holinski-Feder E, Neuhann T, Abicht A. Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort. J Neuromuscul Dis. 2023;10(5):835-846. doi: 10.3233/JND-221668. PMID: 37424474; PMCID: PMC10578226.

Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany.
Müller-Felber W, Blaschek A, Schwartz O, Gläser D, Nennstiel U, Brockow I, Wirth B, Burggraf S, Röschinger W, Becker M, Durner J, Eggermann K, Kölbel H, Müller C, Hannibal I, Olgemöller B, Schara U, von Moers A, Trollmann R, Johannssen J, Ziegler A, Cirak S, Hahn A, von der Hagen M, Weiss C, Schreiber G, Flotats-Bastardas M, Hartmann H, Illsinger S, Pechmann A, Horber V, Kirschner J, Köhler C, Winter B, Friese J, Vill K. Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany. J Neuromuscul Dis. 2023;10(1):55-65. doi: 10.3233/JND-221577. PMID: 36463459; PMCID: PMC9881029.

Holger Hohn on his 80th birthday and the difficult start of human genetics in Wurzburg more than 40 years ago.
Grimm T, Zerres K. Med. Genet. 2023; 35(1 ): 55-60.

lnvitation to the Syndrome Day 2023 in Aachen from 22.-23. September
Elbracht M, Kurth I. Med. Genet. 2023; 35(1): 77-77.

Quality assurance within the context of genome diagnostics (a german perspective)
Kraft F, Benet-Pages A, Berner D, Teubert A, Eck S, Arnold N, Bauer P, Begemann M, Sturm M, Kleinle S, B. Haack TB, Eggermann T. Med. Genet. 2023; 35(2): 91-104.

First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions.
Schlaich E, Hubens WHG, Eggermann T. First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions. Mol Genet Genomic Med. 2023 Dec;11(12):e2264. doi: 10.1002/mgg3.2264. Epub 2023 Jul 31. PMID: 37519217; PMCID: PMC10724498.

Networked care-Today and in 10 years
Vogel T, Albertowski AS, Bienenstein E, Christ S, Brennenstuhl H, Ferger MD, Karara N, Kerth JL, Krey I, Meyer R, Michaelis A, Obitz J, Toepfner N, Tuncel AT, Winter J, Yoosefi M, Kohlfuerst DS. Monatsschr Kinderheilkd 2023.

lmprinting disorders.
Eggermann T, Monk D, de Nanclares GP, Kagami M, Giabicani E, Riccio A, Tümer Z, Kalish JM, Tauber M, Duis J, Weksberg R, Maher ER, Begemann M, Elbracht M. Nat Rev Dis Primers 2023; 9(1).

A second update on mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative. A second update on mapping the human genetic architecture of COVID-19. Nature. 2023 Sep;621(7977):E7-E26. doi: 10.1038/s41586-023-06355-3. Epub 2023 Sep 6. PMID: 37674002; PMCID: PMC10482689.

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Mensah MA, Niskanen H, Magalhaes AP, Basu S, Kircher M, Sczakiel HL, Reiter AMV, Elsner J, Meinecke P, Biskup S, Chung BHY, Dombrowsky G, Eckmann-Scholz C, Hitz MP, Hoischen A, Holterhus PM, Hülsemann W, Kahrizi K, Kalscheuer VM, Kan A, Krumbiegel M, Kurth I, Leubner J, Longardt AC, Moritz JD, Najmabadi H, Skipalova K, Snijders Blok L, Tzschach A, Wiedersberg E, Zenker M, Garcia-Cabau C, Buschow R, Salvatella X, Kraushar ML, Mundlos S, Caliebe A, Spielmann M, Horn D, Hnisz D. Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. Nature. 2023 Feb;614(7948):564-571. doi: 10.1038/s41586-022-05682-1. Epub 2023 Feb 8. PMID: 36755093; PMCID: PMC9931588.

Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy.
Foronda H, Fu Y, Covarrubias-Pinto A, Bocker HT, González A, Seemann E, Franzka P, Bock A, Bhaskara RM, Liebmann L, Hoffmann ME, Katona I, Koch N, Weis J, Kurth I, Gleeson JG, Reggiori F, Hummer G, Kessels MM, Qualmann B, Mari M, Dikić I, Hübner CA. Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy. Nature. 2023 Jun;618(7964):402-410. doi: 10.1038/s41586-023-06090-9. Epub 2023 May 24. PMID: 37225994; PMCID: PMC10247384.

Single-cell, whole-embryo phenotyping of mammalian developmental disorders.
Huang X, Henck J, Qiu C, Sreenivasan VKA, Balachandran S, Amarie OV, Hrabě de Angelis M, Behncke RY, Chan WL, Despang A, Dickel DE, Duran M, Feuchtinger A, Fuchs H, Gailus-Durner V, Haag N, Hägerling R, Hansmeier N, Hennig F, Marshall C, Rajderkar S, Ringel A, Robson M, Saunders LM, da Silva-Buttkus P, Spielmann N, Srivatsan SR, Ulferts S, Wittler L, Zhu Y, Kalscheuer VM, Ibrahim DM, Kurth I, Kornak U, Visel A, Pennacchio LA, Beier DR, Trapnell C, Cao J, Shendure J, Spielmann M. Single-cell, whole-embryo phenotyping of mammalian developmental disorders. Nature. 2023 Nov;623(7988):772-781. doi: 10.1038/s41586-023-06548-w. Epub 2023 Nov 15. PMID: 37968388; PMCID: PMC10665194.

Peripheral temperature dysregulation associated with functionally altered NaV1 .8 channels.
Loose S, Lischka A, Kuehs S, Nau C, Heinemann SH, Kurth I, Leipold E. Peripheral temperature dysregulation associated with functionally altered NaV1.8 channels. Pflugers Arch. 2023 Nov;475(11):1343-1355. doi: 10.1007/s00424-023-02856-2. Epub 2023 Sep 11. PMID: 37695396; PMCID: PMC10567936.

Prenatal testing for lmprinting Disorders: A clinical perspective.
Beygo J, Russo S, Tannorella P, Santen GWE, Dufke A, Schlaich E, Eggermann T. Prenatal testing for imprinting disorders: A laboratory perspective. Prenat Diagn. 2023 Jul;43(8):973-982. doi: 10.1002/pd.6398. Epub 2023 Jul 4. PMID: 37340544.

Prenatal testing for imprinting disorders: A laboratory perspective.
Beygo J, Russo S, Tannorella P, Santen GWE, Dufke A, Schlaich E, Eggermann T. Prenatal testing for imprinting disorders: A laboratory perspective. Prenat Diagn. 2023 Jul;43(8):973-982. doi: 10.1002/pd.6398. Epub 2023 Jul 4. PMID: 37340544.

Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Erger F, Aryal RP, Reusch B, Matsumoto Y, Meyer R, Zeng J, Knopp C, Noel M, Muerner L, Wenzel A, Kohl S, Tschernoster N, Rappl G, Rouvet I, Schröder-Braunstein J, Seibert FS, Thiele H, Häusler MG, Weber LT, Büttner-Herold M, Elbracht M, Cummings SF, Altmüller J, Habbig S, Cummings RD, Beck BB. Germline C1GALT1C1 mutation causes a multisystem chaperonopathy. Proc Natl Acad Sci U S A. 2023 May 30;120(22):e2211087120. doi: 10.1073/pnas.2211087120. Epub 2023 May 22. PMID: 37216524; PMCID: PMC10235935.

Functional connectivity signatures of NMDAR dysfunction in schizophrenia-integrating findings from imaging genetics and pharmaco-fMRI.
Gaebler AJ, Fakour N, Stöhr F, Zweerings J, Taebi A, Suslova M, Dukart J, Hipp JF, Adhikari BM, Kochunov P, Muthukumaraswamy SD, Forsyth A, Eggermann T, Kraft F, Kurth I, Paulzen M, Gründer G, Schneider F, Mathiak K. Functional connectivity signatures of NMDAR dysfunction in schizophrenia-integrating findings from imaging genetics and pharmaco-fMRI. Transl Psychiatry. 2023 Feb 16;13(1):59. doi: 10.1038/s41398-023-02344-2. PMID: 36797233; PMCID: PMC9935542.

ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.
Vitobello A, Mazel B, Lelianova VG, Zangrandi A, Petitto E, Suckling J, Salpietro V, Meyer R, Elbracht M, Kurth I, Eggermann T, Benlaouer O, Lall G, Tonevitsky AG, Scott DA, Chan KM, Rosenfeld JA, Nambot S, Safraou H, Bruel AL, Denommé-Pichon AS, Tran Mau-Them F, Philippe C, Duffourd Y, Guo H, Petersen AK, Granger L, Crunk A, Bayat A, Striano P, Zara F, Scala M, Thomas Q, Delahaye A, de Sainte Agathe JM, Buratti J, Kozlov SV, Faivre L, Thauvin-Robinet C, Ushkaryov Y. Am J Hum Genet. 2022 Aug 4;109(8):1436-1457. doi: 10.1016/j.ajhg.2022.06.011. Epub 2022 Jul 30. PMID: 35907405; PMCID: PMC9388395.

Molecular Basis of Beckwith-Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice.
Eggermann T, Maher ER, Kratz CP, Prawitt D. Cancers (Basel). 2022 Jun 23;14(13):3083. doi: 10.3390/cancers14133083. PMID: 35804856; PMCID: PMC9265096.

Novel homozygous nonsense mutation in the P5'N-1 coding gene as an alternative cause for hereditary anemia with basophilic stippling.
Kirschner M, Heinen IR, Koschmieder S, Manco L, Bento C, Eggermann T, Kurth I, Jost E, Brümmendorf TH, Fuchs R. Clin Case Rep. 2022 Mar 4;10(3):e05501. doi: 10.1002/ccr3.5501. PMID: 35280089; PMCID: PMC8895901.

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.
Mackay D, Bliek J, Kagami M, Tenorio-Castano J, Pereda A, Brioude F, Netchine I, Papingi D, de Franco E, Lever M, Sillibourne J, Lombardi P, Gaston V, Tauber M, Diene G, Bieth E, Fernandez L, Nevado J, Tümer Z, Riccio A, Maher ER, Beygo J, Tannorella P, Russo S, de Nanclares GP, Temple IK, Ogata T, Lapunzina P, Eggermann T. Clin Epigenetics. 2022 Nov 7;14(1):143. doi: 10.1186/s13148-022-01358-9. PMID: 36345041; PMCID: PMC9641836.

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
Eggermann T, Yapici E, Bliek J, Pereda A, Begemann M, Russo S, Tannorella P, Calzari L, de Nanclares GP, Lombardi P, Temple IK, Mackay D, Riccio A, Kagami M, Ogata T, Lapunzina P, Monk D, Maher ER, Tümer Z. Clin Epigenetics. 2022 Mar 16;14(1):41. doi: 10.1186/s13148-022-01259-x. PMID: 35296332; PMCID: PMC8928698.

Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives.
van der Kaay DCM, Rochtus A, Binder G, Kurth I, Prawitt D, Netchine I, Johannsson G, Hokken-Koelega ACS, Elbracht M, Eggermann T. Endocr Connect. 2022 Oct 10;11(11):e220277. doi: 10.1530/EC-22-0277. PMID: 36064195; PMCID: PMC9578069.

Biallelic loss-of-function mutations in WDR11 are associated with microcephaly and intellectual disability.
Haag N, Tan EC, Begemann M, Buschmann L, Kraft F, Holschbach P, Lai AHM, Brett M, Mochida GH, DiTroia S, Pais L, Neil JE, Al-Saffar M, Bastaki L, Walsh CA, Kurth I, Knopp C. Eur J Hum Genet. 2021 Nov;29(11):1663-1668. doi: 10.1038/s41431-021-00943-5. Epub 2021 Aug 20. PMID: 34413497; PMCID: PMC8560748.

C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.
Lausberg E, Gießelmann S, Dewulf JP, Wiame E, Holz A, Salvarinova R, van Karnebeek CD, Klemm P, Ohl K, Mull M, Braunschweig T, Weis J, Sommer CJ, Demuth S, Haase C, Stollbrink-Peschgens C, Debray FG, Libioulle C, Choukair D, Oommen PT, Borkhardt A, Surowy H, Wieczorek D, Wagner N, Meyer R, Eggermann T, Begemann M, Van Schaftingen E, Häusler M, Tenbrock K, van den Heuvel L, Elbracht M, Kurth I, Kraft F. J Clin Invest. 2021 Jun 15;131(12):e143078. doi: 10.1172/JCI143078. PMID: 33945503; PMCID: PMC8203463.

Genetic basis of imprinting disordes.
Eggermann T. Eur J Hum Genet 2022; 30 Suppl 1: 18-19.

Genetics of Pain: Novel variants identified by the European Network on Inherited Sensory Neuropathies and Insensitivity to Pain (ENISNIP)
Lischka A, Eggermann K, Cakar A, Bocek R, Bartesaghi L, Elbracht M, Hornemann T, Senderek J, Auer-Grumbach M, Parman Y, Lassuthova P, Kurth I.  Eur J Hum Genet 2022; 30 Suppl 1: 128-128.

Multilocus Imprinting Disturbance (MLID) testing in imprinting disorders: Joint position statement to standardize diagnostic testing for MLID
Eggermann T, Mackay D, Temple K, Monk D, Maher E, Riccio A, Brioude F, Linglart A, Begemann M, Eggermann K, Elbracht M, Gronskov K, Bliek J, Lombardi P, de Nanclares GP, Kagami M, Netchine I, Ogata T, Tumer Z. Eur J Hum Genet 2022; 30 Suppl 1: 474-475.

Pathogenic SAMD9L variants: Differential diagnosis of CMT and potential pitfall in trio-exome analysis
Eggermann K,Korenke GC, Kurth I, Begemann M, Dey D, Knopp C.  Eur J Hum Genet 2022; 30 Suppl 1: 321-321.

Further understanding of paternal uniparental disomy in Beckwith-Wiedemann syndrome.
Eggermann T, Prawitt D. Expert Rev Endocrinol Metab. 2022 Nov;17(6):513-521. doi: 10.1080/17446651.2022.2144228. Epub 2022 Nov 14. PMID: 36377076.

Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell immunoprofiling.
Schreibing F, Hannani MT, Kim H, Nagai JS, Ticconi F, Fewings E, Bleckwehl T, Begemann M, Torow N, Kuppe C, Kurth I, Kranz J, Frank D, Anslinger TM, Ziegler P, Kraus T, Enczmann J, Balz V, Windhofer F, Balfanz P, Kurts C, Marx G, Marx N, Dreher M, Schneider RK, Saez-Rodriguez J, Costa I, Hayat S, Kramann R. Front Immunol. 2022 Dec 16;13:1066176. doi: 10.3389/fimmu.2022.1066176. PMID: 36591270; PMCID: PMC9800604.

Isolation and transfection of myenteric neurons from mice for patch-clamp applications.
Kuehs S, Teege L, Hellberg AK, Stanke C, Haag N, Kurth I, Blum R, Nau C, Leipold E. Front Mol Neurosci. 2022 Dec 21;15:1076187. doi: 10.3389/fnmol.2022.1076187. PMID: 36618826; PMCID: PMC9810798.

Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy.
Eggermann K, Meyer R, Begemann M, Dey D, Bültmann E, Kurth I, Korenke GC, Knopp C. Genes (Basel). 2022 Dec 14;13(12):2356. doi: 10.3390/genes13122356. PMID: 36553623; PMCID: PMC9778166.

New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1.
Kölbel H, Kraft F, Hentschel A, Czech A, Gangfuss A, Mohassel P, Nguyen C, Stenzel W, Schara-Schmidt U, Preuße C, Roos A. Genes (Basel). 2022 May 17;13(5):893. doi: 10.3390/genes13050893. PMID: 35627278; PMCID: PMC9140917.

Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Johannesen KM, Iqbal S, Guazzi M, Mohammadi NA, Pérez-Palma E, Schaefer E, De Saint Martin A, Abiwarde MT, McTague A, Pons R, Piton A, Kurian MA, Ambegaonkar G, Firth H, Sanchis-Juan A, Deprez M, Jansen K, De Waele L, Briltra EH, Verbeek NE, van Kempen M, Fazeli W, Striano P, Zara F, Visser G, Braakman HMH, Haeusler M, Elbracht M, Vaher U, Smol T, Lemke JR, Platzer K, Kennedy J, Klein KM, Au PYB, Smyth K, Kaplan J, Thomas M, Dewenter MK, Dinopoulos A, Campbell AJ, Lal D, Lederer D, Liao VWY, Ahring PK, Møller RS, Gardella E. Genet Med. 2022 Mar;24(3):681-693. doi: 10.1016/j.gim.2021.11.004. Epub 2021 Dec 7. PMID: 34906499.

Novel Heritable Human COSMC Mutation Results in a Multisystemic Chaperonopathy.
Aryal RP, Erger F, Reusch B, Matsumoto Y, Meyer R, Zeng JW, Knopp C, Noel M, Wenzel A, Kohl S, Tschernoster N, Rappl G, Schroeder-Braunstein J, Seibert F, Thiele H, Haeusler M, Weber L, Buettner-Herold M, Elbracht M, Cummings S, Altmuller J, Habbig S, Beck B, Cummings R.  Glycobiology 2022; 32(11): 1031-1031.

Detailed stratified GWAS analysis for severe COVID-19 in four European populations.
Degenhardt F, Ellinghaus D, Juzenas S, Lerga-Jaso J, Wendorff M, Maya-Miles D, Uellendahl-Werth F, ElAbd H, Rühlemann MC, Arora J, Özer O, Lenning OB, Myhre R, Vadla MS, Wacker EM, Wienbrandt L, Blandino Ortiz A, de Salazar A, Garrido Chercoles A, Palom A, Ruiz A, Garcia-Fernandez AE, Blanco-Grau A, Mantovani A, Zanella A, Holten AR, Mayer A, Bandera A, Cherubini A, Protti A, Aghemo A, Gerussi A, Ramirez A, Braun A, Nebel A, Barreira A, Lleo A, Teles A, Kildal AB, Biondi A, Caballero-Garralda A, Ganna A, Gori A, Glück A, Lind A, Tanck A, Hinney A, Carreras Nolla A, Fracanzani AL, Peschuck A, Cavallero A, Dyrhol-Riise AM, Ruello A, Julià A, Muscatello A, Pesenti A, Voza A, Rando-Segura A, Solier A, Schmidt A, Cortes B, Mateos B, Nafria-Jimenez B, Schaefer B, Jensen B, Bellinghausen C, Maj C, Ferrando C, de la Horra C, Quereda C, Skurk C, Thibeault C, Scollo C, Herr C, Spinner CD, Gassner C, Lange C, Hu C, Paccapelo C, Lehmann C, Angelini C, Cappadona C, Azuure C; COVICAT study group, Aachen Study (COVAS); Bianco C, Cea C, Sancho C, Hoff DAL, Galimberti D, Prati D, Haschka D, Jiménez D, Pestaña D, Toapanta D, Muñiz-Diaz E, Azzolini E, Sandoval E, Binatti E, Scarpini E, Helbig ET, Casalone E, Urrechaga E, Paraboschi EM, Pontali E, Reverter E, Calderón EJ, Navas E, Solligård E, Contro E, Arana-Arri E, Aziz F, Garcia F, García Sánchez F, Ceriotti F, Martinelli-Boneschi F, Peyvandi F, Kurth F, Blasi F, Malvestiti F, Medrano FJ, Mesonero F, Rodriguez-Frias F, Hanses F, Müller F, Hemmrich-Stanisak G, Bellani G, Grasselli G, Pezzoli G, Costantino G, Albano G, Cardamone G, Bellelli G, Citerio G, Foti G, Lamorte G, Matullo G, Baselli G, Kurihara H, Neb H, My I, Kurth I, Hernández I, Pink I, de Rojas I, Galván-Femenia I, Holter JC, Afset JE, Heyckendorf J, Kässens J, Damås JK, Rybniker J, Altmüller J, Ampuero J, Martín J, Erdmann J, Banales JM, Badia JR, Dopazo J, Schneider J, Bergan J, Barretina J, Walter J, Hernández Quero J, Goikoetxea J, Delgado J, Guerrero JM, Fazaal J, Kraft J, Schröder J, Risnes K, Banasik K, Müller KE, Gaede KI, Garcia-Etxebarria K, Tonby K, Heggelund L, Izquierdo-Sanchez L, Bettini LR, Sumoy L, Sander LE, Lippert LJ, Terranova L, Nkambule L, Knopp L, Gustad LT, Garbarino L, Santoro L, Téllez L, Roade L, Ostadreza M, Intxausti M, Kogevinas M, Riveiro-Barciela M, Berger MM, Schaefer M, Niemi MEK, Gutiérrez-Stampa MA, Carrabba M, Figuera Basso ME, Valsecchi MG, Hernandez-Tejero M, Vehreschild MJGT, Manunta M, Acosta-Herrera M, D'Angiò M, Baldini M, Cazzaniga M, Grimsrud MM, Cornberg M, Nöthen MM, Marquié M, Castoldi M, Cordioli M, Cecconi M, D'Amato M, Augustin M, Tomasi M, Boada M, Dreher M, Seilmaier MJ, Joannidis M, Wittig M, Mazzocco M, Ciccarelli M, Rodríguez-Gandía M, Bocciolone M, Miozzo M, Imaz Ayo N, Blay N, Chueca N, Montano N, Braun N, Ludwig N, Marx N, Martínez N; Norwegian SARS-CoV-2 Study group; Cornely OA, Witzke O, Palmieri O; Pa Study Group; Faverio P, Preatoni P, Bonfanti P, Omodei P, Tentorio P, Castro P, Rodrigues PM, España PP, Hoffmann P, Rosenstiel P, Schommers P, Suwalski P, de Pablo R, Ferrer R, Bals R, Gualtierotti R, Gallego-Durán R, Nieto R, Carpani R, Morilla R, Badalamenti S, Haider S, Ciesek S, May S, Bombace S, Marsal S, Pigazzini S, Klein S, Pelusi S, Wilfling S, Bosari S, Volland S, Brunak S, Raychaudhuri S, Schreiber S, Heilmann-Heimbach S, Aliberti S, Ripke S, Dudman S, Wesse T, Zheng T; STORM Study group, The Humanitas Task Force, The Humanitas Gavazzeni Task Force; Bahmer T, Eggermann T, Illig T, Brenner T, Pumarola T, Feldt T, Folseraas T, Gonzalez Cejudo T, Landmesser U, Protzer U, Hehr U, Rimoldi V, Monzani V, Skogen V, Keitel V, Kopfnagel V, Friaza V, Andrade V, Moreno V, Albrecht W, Peter W, Poller W, Farre X, Yi X, Wang X, Khodamoradi Y, Karadeniz Z, Latiano A, Goerg S, Bacher P, Koehler P, Tran F, Zoller H, Schulte EC, Heidecker B, Ludwig KU, Fernández J, Romero-Gómez M, Albillos A, Invernizzi P, Buti M, Duga S, Bujanda L, Hov JR, Lenz TL, Asselta R, de Cid R, Valenti L, Karlsen TH, Cáceres M, Franke A. Hum Mol Genet. 2022 Nov 28;31(23):3945-3966. doi: 10.1093/hmg/ddac158. PMID: 35848942; PMCID: PMC9703941.

A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon.
Høyer H, Hilmarsen HT, Sunder-Plassmann R, Braathen GJ, Andersen PM, Beetz C, Hacker S, Holla ØL, Kurth I, Löscher WN, Reiter SBCF, Rudnik-Schöneborn S, Strand L, Windhager R, Witsch-Baumgartner M, Senderek J, Auer-Grumbach M. J Med Genet. 2022 Oct;59(10):1024-1026. doi: 10.1136/jmedgenet-2021-108281. Epub 2022 Mar 22. PMID: 35318247; PMCID: PMC9554250.

Recurrent small deletions in KCNQ1OT1: a challenge for pathogenicity prediction.
Eggermann T. J Med Genet. 2023 Feb;60(2):131-133. doi: 10.1136/jmedgenet-2022-108625. Epub 2022 Jun 30. PMID: 35772846.

Childhood adversity and approach/avoidance-related behaviour in boys.
Grossheinrich N, Schaeffer J, Firk C, Eggermann T, Huestegge L, Konrad K. J Neural Transm (Vienna). 2022 Apr;129(4):421-429. doi: 10.1007/s00702-022-02481-w. Epub 2022 Mar 11. PMID: 35275248; PMCID: PMC9007772.

Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39.
Viertauer S, Kurth I, Eggermann K, Eggers C. J Neurol. 2022 Dec;269(12):6476-6482. doi: 10.1007/s00415-022-11313-6. Epub 2022 Aug 10. PMID: 35947152; PMCID: PMC9618546.

Newborn Screening for SMA - Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?
Blaschek A, Kölbel H, Schwartz O, Köhler C, Gläser D, Eggermann K, Hannibal I, Schara-Schmidt U, Müller-Felber W, Vill K. J Neuromuscul Dis. 2022;9(5):597-605. doi: 10.3233/JND-221510. PMID: 35848034.

Novel variants boaden the mutational spectrum of Hereditary Sensory ans Autonomic Neuropathy Disorders
Lischka A, Eggermann K, Cakar A, Record C, Elbracht M, Hornemann T, Senderek J, Parman Y, Auer-Grumbach M, Reilly M, Woods G, Lassuthova P, Kurth I. J Peripher Nerv Syst 2022; 27 Suppl 3: S83-S84.

Structural Alterations reduce nociception in mice carrying the L799P-gain-of-function variant in NAV1.9 sodium channel
Schmidt A, Bremer J, Kurth I, Haag N. J Peripher Nerv Syst 2022; 27 Suppl 3: S122-S123;

Career satisfaction of German human genetics residents.
Tecklenburg J, Meyer R, Krey I, Schlegelberger, B. Medizinische Genetik, vol. 33, no. 4, 2021, pp. 343-351. doi.org/10.1515/medgen-2021-2103.

Constituent Assembly of the Young Human Genetics
Krey I, Meyer R. Medizinische Genetik, vol. 34, no. 2, 2022, pp. 183-183. doi.org/10.1515/medgen-2022-2129.

GenomDE and Model Projects - new Care Structures in Human Genetics
Holinski-Feder E, Eggermann T, Stumm M, Goehring G, Kleier S, Gabriel H, Behrens Y. Medizinische Genetik, vol. 34, no. 1, 2022, pp. 85-87. doi.org/10.1515/medgen-2022-2111

Non-directivity as a guiding category in human genetic counselling in a historical perspective
Soehner F, Rolfes V, Hofmann W, Zerres K, Fangerau H, Krischel M. Medizinische Genetik, 34(3), 233-239. doi.org/10.1515/medgen-2022-2148.

Preconception carrier screening as an alternative reproductive option prior to newborn screening for severe recessive disorders
Rudnik-Schoeneborn S, Zerres K. Medizinische Genetik, 34(2), 157-161. doi.org/10.1515/medgen-2022-2123.

The "clinical Year" in Human Genetics - Time for a New Edition? Perspectives from Young Human Genetics
Krey I, Meyer R, Tecklenburg J, Junge Humangenetik. Medizinische Genetik, vol. 34, no. 2, 2022, pp. 163-165. doi.org/10.1515/medgen-2022-2130.

The GfH Junior Academy 2021-Personal Encounters made possible again
Maier F, Forstner A, Korte M, Rey-Thol L, Meyer R, Schnabel F. Medizinische Genetik, vol. 33, no. 4, 2021, pp. 363-366. doi.org/10.1515/medgen-2021-2104.

Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes.
Baba N, Lengyel A, Pinti E, Yapici E, Schreyer I, Liehr T, Fekete G, Eggermann T. Mol Cytogenet. 2022 May 13;15(1):19. doi:

Mosaic Variegated Aneuploidy Syndrome and Noonan Syndrome in the Same Family
Hübner CT, Amin AK, Dey D, Meyer R, Eggermann T. 2022 Dec;13(5):402-408. doi: 10.1159/000523877. Epub 2022 Mar 31. PMID: 36588761; PMCID: PMC9801314.

Adult human kidney organoids originate from CD24+ cells and represent an advanced model for adult polycystic kidney disease.
Xu Y, Kuppe C, Perales-Patón J, Hayat S, Kranz J, Abdallah AT, Nagai J, Li Z, Peisker F, Saritas T, Halder M, Menzel S, Hoeft K, Kenter A, Kim H, van Roeyen CRC, Lehrke M, Moellmann J, Speer T, Buhl EM, Hoogenboezem R, Boor P, Jansen J, Knopp C, Kurth I, Smeets B, Bindels E, Reinders MEJ, Baan C, Gribnau J, Hoorn EJ, Steffens J, Huber TB, Costa I, Floege J, Schneider RK, Saez-Rodriguez J, Freedman BS, Kramann R. Nat Genet. 2022 Nov;54(11):1690-1701. doi: 10.1038/s41588-022-01202-z. Epub 2022 Oct 27. PMID: 36303074; PMCID: PMC7613830.

Genetic pain loss disorders.
Lischka A, Lassuthova P, Çakar A, Record CJ, Van Lent J, Baets J, Dohrn MF, Senderek J, Lampert A, Bennett DL, Wood JN, Timmerman V, Hornemann T, Auer-Grumbach M, Parman Y, Hübner CA, Elbracht M, Eggermann K, Geoffrey Woods C, Cox JJ, Reilly MM, Kurth I. Nat Rev Dis Primers. 2022 Jun 16;8(1):41. doi: 10.1038/s41572-022-00365-7. PMID: 35710757.

Hereditary Sensory and Autonomic Neuropathy: A Case Series of Six Children.
Suthar R, Sharawat IK, Eggermann K, Padmanabha H, Saini AG, Bharti B, Kurth I, Singhi P, Sankhyan N. Neurol India. 2022 Jan-Feb;70(1):231-237. doi: 10.4103/0028-3886.338691.

Nociception, Transcriptomics ET CETERA: NOCICEPTRA.
Haag N, Lampert A. Pflugers Arch. 2022 May;474(5):483-484. doi: 10.1007/s00424-022-02673-z. Epub 2022 Feb 24. PMID: 35211814; PMCID: PMC8993772.

Evaluation of prognostic factors after primary chemoradiotherapy of anal cancer: A multicenter study of the German Cancer Consortium-Radiation Oncology Group (DKTK-ROG).
Martin D, Schreckenbach T, Ziegler P, Filmann N, Kalinauskaite G, Tinhofer I, Budach V, Gani C, Zips D, Schimek-Jasch T, Schäfer H, Grosu AL, Thomas E, Krause M, Dapper H, Combs S, Hoffmann C, Stuschke M, Walter F, Belka C, Kurth I, Hadiwikarta WW, Baumann M, Rödel C, Fokas E. Radiother Oncol. 2022 Feb;167:233-238. doi: 10.1016/j.radonc.2021.12.050. Epub 2022 Jan 6. PMID: 34999135.

CRISPR/Cas9-engineered human ES cells harboring heterozygous and homozygous c-KIT knockout.
de Toledo MAS, Fu X, Kluge F, Götz K, Schmitz S, Wanek P, Schüler HM, Pannen K, Chatain N, Koschmieder S, Brümmendorf TH, Zenke M. Stem Cell Res. 2022 Apr;60:102732. doi: 10.1016/j.scr.2022.102732. Epub 2022 Mar 1. PMID: 35279545.

Nintedanib targets KIT D816V neoplastic cells derived from induced pluripotent stem cells of systemic mastocytosis.
Toledo MAS, Gatz M, Sontag S, Gleixner KV, Eisenwort G, Feldberg K, Hamouda AEI, Kluge F, Guareschi R, Rossetti G, Sechi AS, Dufva O, Mustjoki S, Maurer A, Schüler HM, Goetzke R, Braunschweig T, Kaiser A, Panse JP, Jawhar M, Reiter A, Hilberg F, Ettmayer P, Wagner W, Koschmieder S, Brümmendorf TH, Valent P, Chatain N, Zenke M
Blood 2021; 137(15): 2070-2084; 2021 Apr 15;137(15):2070-2084.
doi: 10.1182/blood.2019004509

Germline variants in DNA repair genes, including BRCA1/2, may cause familial myeloproliferative neoplasms.
Elbracht M, Meyer R, Kricheldorf K, Gezer D, Thomas E, Betz B, Kurth I, Teichmann LL, Brümmendorf TH, Germing U, Isfort S, Koschmieder S
Blood Adv 2021; 5(17): 3373-3376; doi: 10.1182/bloodadvances.2021004811

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles (vol 143, pg 2406, 2020)
Hedberg-Oldfors C, Meyer R, Nolte K, Rahim YA, Lindberg C, Karason K, Thuestad IJ, Visuttijai K, Geijer M, Begemann M, Kraft F, Lausberg E, Hitpass L, Tzl RGSD, Luna EJ, Lochmuller H, Koschmieder S, Gramlich M, Gess B, Elbracht M, Weis J, Kurth I, Oldfors A, Knopp C
Brain 2021; 144(3):e34. doi: 10.1093/brain/awaa412

Assessing the impact of pain-linked Nav1.7 variants: An example of two variants with no biophysical effect
Le Cann K, Meents JE, Sudha Bhagavath Eswaran VSB, Dohrn MF, Bott R, Maier A, Bialer M, Hautvast P, Erickson A, Rolke R, Rothermel M, Korner J, Kurth I, Lampert A
Channels (Austin) 2021; 15(1): 208-228. doi: 10.1080/19336950.2020.1870087

Overgrowth-associated partial trisomy 15q24.3-qter and mosaic 11p15.5 duplication involving Silver-Russell region in a patient with lateralized asymmetry and developmental delay
Maier F, Fruehwald M, Heinrich U, Schimmel M, Wahl D, Eggermann T
Clin Dysmorphol 2021; 30(4): 189-193; doi: 10.1097/MCD.0000000000000378

Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains
Eggermann T, Begemann M, Pfeiffer L
Clin Epigenetics 2021; 13(1) doi: 10.1186/s13148-021-01020-w

DNA methylation changes during long-term in vitro cell culture are caused by epigenetic drift
Franzen J, Georgomanolis T, Selich A, Kuo CC, Stoeger R, Brant L, Mulabdic MS, Fernandez-Rebollo E, Grezella C, Ostrowska A, Begemann M, Nikolic M, Rath B, Ho AD, Rothe M, Schambach A, Papantonis A, Wagner W
Commun Biol 2021; 4(1): doi: 10.1038/s42003-021-02116-y

Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family
Eggermann T, Kadgien G, Begemann M, Elbracht M
Eur J Hum Genet 2021; 29(4): 575-580 doi: 10.1038/s41431-020-00762-0

Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability
Haag N, Tan EC, Begemann M, Buschmann L, Kraft F, Holschbach P, Lai AHM, Brett M, Mochida GH, Di Troia S, Pais L, Neil JE, Al-Saffar M, Bastaki L, Walsh CA, Kurth I, Knopp C Eur J Hum Genet 2021; 29(11): 1663-1668; doi: 10.1038/s41431-021-00943-5

Alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and overgrowth-Association with a homozygous 2bp-insertion in LTBP2?
Vollbach K, Trepels-Kottek S, Elbracht M, Kurth I, Wagner N, Orlikowsky T, Braunschweig T, Tenbrock K
Eur J Med Genet 2021; 64(6): doi: 10.1016/j.ejmg.2021.104209

Novel splice-site and missense variant of PNPLA6 in an Austrian family causing spastic paraplegia-39
Viertauer S, Eggers C, Konrat R, Eggermann K, Kurth I
Eur J Neurol 2021; 28 Suppl 1(): 848-848; ISSN:1351-5101 eISSN:1468-1331

Unusual phenotypes in patients with a pathogenic germline variant in DICER1
Venger K, Elbracht M, Carlens J, Deutz P, Zeppernick F, Lassay L, Kratz C, Zenker M, Kim J, Stewart DR, Wieland I, Schultz KAP, Schwerk N, Kurth I, Kontny U
Fam Cancer 2021; doi: 10.1007/s10689-021-00271-z.  Online ahead of print

Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure
Eggermann T
Geburtsh Frauenheilk 2021; 81(07): 780-788; doi: 10.1055/a-1396-4390. Epub 2021 Jul 13

Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network
Eggermann T, Davies JH, Tauber M, van den Akker E, Hokken-Koelega A, Johansson G, Netchine I
Genes (Basel) 2021; 12(4) doi: 10.3390/genes12040585

Disease severity-specific neutrophil signatures in blood transcriptomes stratify COVID-19 patients.
Aschenbrenner AC, Mouktaroudi M, Krämer B, Oestreich M, Antonakos N, Nuesch-Germano M, Gkizeli K, Bonaguro L, Reusch N, Baßler K, Saridaki M, Knoll R, Pecht T, Kapellos TS, Doulou S, Kröger C, Herbert M, Holsten L, Horne A, Gemünd ID, Rovina N, Agrawal S, Dahm K, van Uelft M, Drews A, Lenkeit L, Bruse N, Gerretsen J, Gierlich J, Becker M, Händler K, Kraut M, Theis H, Mengiste S, De Domenico E, Schulte-Schrepping J, Seep L, Raabe J, Hoffmeister C, ToVinh M, Keitel V, Rieke G, Talevi V, Skowasch D, Aziz NA, Pickkers P, van de Veerdonk FL, Netea MG, Schultze JL, Kox M, Breteler MMB, Nattermann J, Koutsoukou A, Giamarellos-Bourboulis EJ, Ulas T, German COVID-19 Omics Initiative (DeCOI)
Genome Med 2021; 13(1) doi: 10.1186/s13073-020-00823-5

Genome sequencing in families with congenital limb malformations.
Elsner J, Mensah MA, Holtgrewe M, Hertzberg J, Bigoni S, Busche A, Coutelier M, de Silva DC, Elçioglu N, Filges I, Gerkes E, Girisha KM, Graul-Neumann L, Jamsheer A, Krawitz P, Kurth I, Markus S, Megarbane A, Reis A, Reuter MS, Svoboda D, Teller C, Tuysuz B, Türkmen S, Wilson M, Woitschach R, Vater I, Caliebe A, Hülsemann W, Horn D, Mundlos S, Spielmann M
Hum Genet 2021; 140(8): 1229-1239 doi: 10.1007/s00439-021-02295-y. Epub 2021 Jun 22

Early IFN-α signatures and persistent dysfunction are distinguishing features of NK cells in severe COVID-19.
Krämer B, Knoll R, Bonaguro L, ToVinh M, Raabe J, Astaburuaga-García R, Schulte-Schrepping J, Kaiser KM, Rieke GJ, Bischoff J, Monin MB, Hoffmeister C, Schlabe S, De Domenico E, Reusch N, Händler K, Reynolds G, Blüthgen N, Hack G, Finnemann C, Nischalke HD, Strassburg CP, Stephenson E, Su Y, Gardner L, Yuan D, Chen D, Goldman J, Rosenstiel P, Schmidt SV, Latz E, Hrusovsky K, Ball AJ, Johnson JM, Koenig PA, Schmidt FI, Haniffa M, Heath JR, Kümmerer BM, Keitel V, Jensen B, Stubbemann P, Kurth F, Sander LE, Sawitzki B, Deutsche COVID-19 OMICS Initiative (DeCOI) , Aschenbrenner AC, Schultze JL, Nattermann J
Immunity 2021; 54(11): 2650-2669.e14; doi: 10.1016/j.immuni.2021.09.002.  Epub 2021 Sep 4

Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality.
Nakanishi T, Pigazzini S, Degenhardt F, Cordioli M, Butler-Laporte G, Maya-Miles D, Bujanda L, Bouysran Y, Niemi ME, Palom A, Ellinghaus D, Khan A, Martínez-Bueno M, Rolker S, Amitrano S, Roade Tato L, Fava F, FinnGen , COVID-19 Host Genetics Initiative (HGI) , Spinner CD, Prati D, Bernardo D, Garcia F, Darcis G, Fernández-Cadenas I, Holter JC, Banales JM, Frithiof R, Kiryluk K, Duga S, Asselta R, Pereira AC, Romero-Gómez M, Nafría-Jiménez B, Hov JR, Migeotte I, Renieri A, Planas AM, Ludwig KU, Buti M, Rahmouni S, Alarcón-Riquelme ME, Schulte EC, Franke A, Karlsen TH, Valenti L, Zeberg H, Richards JB, Ganna A
J Clin Invest 2021; 131(23) e152386. doi: 10.1172/JCI152386

C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation
Lausberg E, Giesselmann S, Dewulf JP, Wiame E, Holz A, Salvarinova R, van Karnebeek CD, Klemm P, Ohl K, Mull M, Braunschweig T, Weis J, Sommer CJ, Demuth S, Haase C, Stollbrink-Peschgens C, Debray FG, Libioulle C, Choukair D, Oommen PT, Borkhardt A, Surowy H, Wieczorek D, Wagner N, Meyer R, Eggermann T, Begemann M, Van Schaftingen E, Hausler M, Tenbrock K, van den Heuvel L, Elbracht M, Kurth I, Kraft F
J Clin Invest 2021; 131(12) doi: 10.1172/JCI143078

Paternal 132 bp deletion affecting in 11p15.5 is associated with growth retardation but does not affect imprinting.
Eggermann T, Kraft F, Lausberg E, Ergezinger K, Kunstmann E
J Med Genet 2021; 58(3): 173-176 doi: 10.1136/jmedgenet-2020-106868.

Do non-invasive prenatal tests promote discrimination against people with Down syndrome? What should be done?
Zerres K, Rudnik-Schoeneborn S, Holzgreve W
J Perinat Med 2021; 49(8): 965-971; doi: 10.1515/jpm-2021-0204

Balance between macrophage migration inhibitory factor and sCD74 predicts outcome in patients with acute decompensation of cirrhosis.
Wirtz TH, Reuken PA, Jansen C, Fischer P, Bergmann I, Backhaus C, Emontzpohl C, Reißing J, Brandt EF, Koenen MT, Schneider KM, Schierwagen R, Brol MJ, Chang J, Zimmermann HW, Köse-Vogel N, Eggermann T, Kurth I, Stoppe C, Bucala R, Bernhagen J, Praktiknjo M, Stallmach A, Trautwein C, Trebicka J, Bruns T, Berres ML
JHEP Rep 2021; 3(2): 100221; doi: 10.1016/j.jhepr.2020.100221

Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wuehl E, Zerres K, Doetsch J, Schaefer F, Liebau MC, ESCAPE Study Grp GPN Study Grp ARegPKD Consortium
Kidney Int 2021; 100(3): 650-659; doi: 10.1016/j.kint.2021.04.019

Clinical spectrum and management of imprinting disorders (vol 32, pg 321, 2020)
Elbracht M, Binder G, Hiort O, Kiewert C, Kratz C, Eggermann T
Med. Genet. 2021; 33(1): 61-63; doi: 10.1515/medgen-2020.2044

Position for a new Board of Directors of the BVDH
Holinski-Feder E, Eggermann T, Stumm M, Kleier S, Goehring G, Behrens Y, Gabriel H
Med. Genet. 2021; 33(2): 205-206; doi.org/10.1515/medgen-2021-20

Prospects and challenges for the genetic counsellor profession in the German-speaking countries: report of a workshop
Schwaninger G, Heidemann S, Hofmann W, Maurer T, Mayerhanser K, Ronez J, Schueler H, Steinmueller K, Rudnik-Schoeneborn S, Zschocke J
Med. Genet. 2021; 33(1): 35-44; doi.org/10.1515/medgen-2021-2055

The Oral-History-Project - Lessons from the History of our Subject
Zerres K
Med. Genet. 2021; 33(2): 179-179; doi.org/10.1515/medgen-2021-2080

Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome
Lengyel A, Pinti E, Eggermann T, Fekete G, Haltrich I
Mol. Syndromol. 2021; 12(5): 300-304; doi: 10.1159/000515941

Exome sequencing in children and adolescents with rare diseases Current situation, challenges, perspectives
Scholz T, Dufke A, Haack T, Elbracht M, Eggermann T, Roggia C, Riess O, Kurth I, Hempel M
Monatsschr Kinderheilkd 2021; doi.org/10.1007

Strong together - for a better Healthcare in Children and Adolescents!
Eckhardt I, Merbecks MB, Jacobi SF, Lechner C, Becker LL, Balks MF, Scala M, Kampmann K, Ortner GR, Schmid F, Hensel KO, Pokora R, Eichinger M, Drossard S, Brennenstuhl H, Christ S, Kock V, Krey I, Meyer R, Schulz J, Ferger MD, Nissen G, Happle C, Kohlfuerst DS, Jakob J
Monatsschr Kinderheilkd 2021; 169, 1083–1087; doi.org/10.1007/s00112-021-01333-3

Strong together - for better Medicine for Children and Adolescents (2021)
Eckhardt I, Merbecks MB, Jacobi SF, Lechner C, Becker LL, Balks MF, Scala M, Kampmann K, Ortner GR, Schmid F, Hensel KO, Pokora R, Eichinger M, Drossard S, Brennenstuhl H, Christ S, Kock V, Krey I, Meyer R, Schulz J, Ferger MD, Nissen G, Happle C, Kohlfuerst DS, Jakob J
Monatsschr Kinderheilkd 2021; doi.org/10.1007/s00112-021-01356-w

Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative
Nature 2021; 600(7889): 472-477; doi: 10.1038/s41586-021-03767-x

Swarm Learning for decentralized and confidential clinical machine learning.
Warnat-Herresthal S, Schultze H, Shastry KL, Manamohan S, Mukherjee S, Garg V, Sarveswara R, Händler K, Pickkers P, Aziz NA, Ktena S, Tran F, Bitzer M, Ossowski S, Casadei N, Herr C, Petersheim D, Behrends U, Kern F, Fehlmann T, Schommers P, Lehmann C, Augustin M, Rybniker J, Altmüller J, Mishra N, Bernardes JP, Krämer B, Bonaguro L, Schulte-Schrepping J, De Domenico E, Siever C, Kraut M, Desai M, Monnet B, Saridaki M, Siegel CM, Drews A, Nuesch-Germano M, Theis H, Heyckendorf J, Schreiber S, Kim-Hellmuth S, COVID-19 Aachen Study (COVAS) , Nattermann J, Skowasch D, Kurth I, Keller A, Bals R, Nürnberg P, Rieß O, Rosenstiel P, Netea MG, Theis F, Mukherjee S, Backes M, Aschenbrenner AC, Ulas T, Deutsche COVID-19 Omics Initiative (DeCOI) , Breteler MMB, Giamarellos-Bourboulis EJ, Kox M, Becker M, Cheran S, Woodacre MS, Goh EL, Schultze JL
Nature 2021; 594(7862): 265-270; doi: 10.1038/s41586-021-03583-3

Plasma 1-deoxy-sphingolipid Levels and (Para) clinical Correlations in 100 Idiopathic Small Fiber Neuropathy Patients
Dohrn M, Dumke C, Hornemann T, Nikolin S, Kurth I, Ouwenbroek A, Schulz J, Gess B, Rolke R
Neurology 2021; 96 Suppl S(15)

Molecular pathophysiology of human MICU1 deficiency.
Kohlschmidt N, Elbracht M, Czech A, Häusler M, Phan V, Töpf A, Huang KT, Bartok A, Eggermann K, Zippel S, Eggermann T, Freier E, Groß C, Lochmüller H, Horvath R, Hajnóczky G, Weis J, Roos A
Neuropathol Appl Neurobiol 2021; 47(6): 840-855; doi: 10.1111/nan.12694

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome
Meyer R, Begemann M, Huebner CT, Dey D, Kuechler A, Elgizouli M, Schara U, Ambrozaityte L, Burnyte B, Schroeder C, Kenawy A, Kroisel P, Demuth S, Fekete G, Opladen T, Elbracht M, Eggermann T
Orphanet J Rare Dis 2021; 16(1) doi: 10.1186/s13023-021-01683-x

GENOTYPE-PHENOTYPE CORRELATIONS IN 304 PATIENTS WITH AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE (ARPKD) AND PKHD1 VARIANTS
Burgmaier K, Brinker L, Erger F, Beck B, Benz M, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wuehl E, Zerres K, Doetsch J, Schaefer F, Liebau MC
Pediatr Nephrol 2021; 36(10): 3348-3349; doi: 10.1016/j.kint.2021.04.019

Recurrent abdominal pain in hereditary sensory autonomic neuropathy type II (HSAN-II)
Alkaissi H, Al-Sibahee E, Baher H, Eggermann K, Al-Abayechi A, Kurth I
Rev Neurol (Paris) 2021; 177(10): 1307-+; doi: 10.1016/j.neurol.2021.03.002

The difficulty to model Huntington's disease in vitro using striatal medium spiny neurons differentiated from human induced pluripotent stem cells
Le Cann K, Foerster A, Roesseler C, Erickson A, Hautvast P, Giesselmann S, Pensold D, Kurth I, Rothermel M, Mattis VB, Zimmer-Bensch G, von Hoersten S, Denecke B, Clarner T, Meents J, Lampert A
Sci Rep 2021; 11(1); doi: 10.1038/s41598-021-85656-x

Persistent astrocytic IL-3 stimulation of microglia slows disease in Alzheimer's: treatment perspectives for Alzheimer's
Haag N, Zempel H
Signal Transduct Target Ther 2021; 6(1); doi: 10.1038/s41392-021-00806-x

CALR frameshift mutations in MPN patient-derived iPSCs accelerate maturation of megakaryocytes.
Olschok K, Han L, de Toledo MAS, Böhnke J, Graßhoff M, Costa IG, Theocharides A, Maurer A, Schüler HM, Buhl EM, Pannen K, Baumeister J, Kalmer M, Gupta S, Boor P, Gezer D, Brümmendorf TH, Zenke M, Chatain N, Koschmieder S
Stem Cell Reports 2021; 16(11): 2768-2783; doi: 10.1016/j.stemcr.2021.09.019

CRISPR/Cas9 mediated CXCL4 knockout in human iPS cells of polycythemia vera patient with JAK2 V617F mutation
Boehnke J, Atakhanov S, Toledo MAS, Schueler HM, Sontag S, Chatain N, Koschmieder S, Bruemmendorf TH, Kramann R, Zenke M
Stem Cell Res 2021; 55; doi: 10.1016/j.scr.2021.102490

Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study
Egenolf N, zu Altenschildesche CM, Kress L, Eggermann K, Namer B, Gross F, Klitsch A, Malzacher T, Kampik D, Malik RA, Kurth I, Sommer C, Uceyler N
Therap Adv Neurol Dis 2021; 14; doi: 10.1177/17562864211004318

Helixer: Cross-species gene annotation of large eucaryotic genomes using deep learning.
Stiehler F, Steinborn M, Scholz S, Dey D, Weber APM, Denton AK. Bioinformatics. 2020 Dec 16;36(22-23):5291-5298. doi: 10.1093/bioinformatics/btaa1044. Online ahead of print. PMID: 33325516

[Genetic counseling in Germany: development of demand].
Schmidtke J, Epplen JT, Glaubitz R, Grimm T, Nippert RP, Tönnies H, Zerres K, Nippert I. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2020 Sep;63(9):1161-1167. doi: 10.1007/s00103-020-03206-8. PMID: 32816063

Novel mutation points to a hot spot in CDKN1C causing Silver-Russel syndrome.
Binder G, Ziegler J, Schweizer R, Habhab W, Haack TB, Heinrich T, Eggermann T. Clin Epigenetics 2020 Oct 19;12(1):152. doi: 10.1186/s13148-020-00945-y. PMID: 33076988

Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5
Eggermann T, Kraft F, Kloth K, Klopocki E, Huning I, Hempel M, Kunstmann E. Clin Genet. 2020 Oct;98(4):418-419. doi: 10.1111/cge.13820. Epub 2020 Aug 9. PMID: 33294970

[Targeted Early Detection and Prevention of Hereditary Colorectal Carcinomas].
Zerres K, Arning L, Böckmann B, Purczeld A, Miterski B. Dtsch Med Wochenschr. 2020 Sep;145(18):1337-1346. doi: 10.1055/a-1154-7684. Epub 2020 Jul 16. PMID: 32674188

Biallelic PADI6 variants cause multilocus imprinting disturbances and misscarriages in the same family.
Eggermann T, Kadgien B, Begemann M, Elbracht M. Eur J Hum Genet. 2021 Apr;29(4):575-580. doi: 10.1038/s41431-020-00762-0. Epub 2020 Nov 21. PMID: 33221824

Molecular characterization of temple syndrome families with 14q31 epimutations.
Brück J, Begemann M, Dey D, Elbracht M, Eggermann T. Eur J Med Genet. 2020 Dec;63(12):104077. doi: 10.1016/j.ejmg.2020.104077. Epub 2020 Sep 30. PMID: 33010492

Pregnancy outcome in Charcot-Marie-Tooth disease: results of the CMT-NET cohort study in Germany.
Rudnik-Schöneborn S, Thiele S, Walter MC, Reinecke L, Sereda M, Schöneborn R, Elbracht M. Eur J Neurol. 2020 Aug;27(8):1390-1396. doi: 10.1111/ene.14317. Epub 2020 Jun 16. PMID: 32400062

Prenatal Detection of Uniparental Disomies (UPD): Intended and Incidental Finding in the Era of Next Generation Genomics.
Eggermann T. Genes (Basel) 2020 Dec 3;11(12):1454. doi: 10.3390/genes11121454. PMID: 33287348

Longitudinal Multi-omics Analyses Identify Responses of Megakaryocytes, Erythroid Cells ans Plasmablasts as Hallmarks of Severe COVID-19.
Bernardes JP, Mishra N, Tran F, Bahmer T, Best L, Blase JI, Bordoni D, Franzenburg J, Geisen U, Josephs-Spaulding J, Köhler P, Künstner A, Rosati E, Aschenbrenner AC, Bacher P, Baran N, Boysen T, Brandt B, Bruse N, Dörr J, Dräger A, Elke G, Ellinghaus D, Fischer J, Förster M, Franke A, Franzenburg S, Frey N, Friedrichs A, Fuß J, Glück A, Hamm J, Hinrichsen F, Hoeppner MP, Imm S, Junker R, Kaiser S, Kan YH, Knoll R, Lange C, Laue G, Lier C, Lindner M, Marinos G, Markewitz R, Nattermann J, Noth R, Pickkers P, Rabe KF, Renz A, Röcken C, Rupp J, Schaffarzyk A, Scheffold A, Schulte-Schrepping J, Schunk D, Skowasch D, Ulas T, Wandinger KP, Wittig M, Zimmermann J, Busch H, Hoyer BF, Kaleta C, HeyckendorfJ, Kox M, Rybniker J, Schreiber S, Schultze JL, Rosenstiel P, HCA Lung Biological Network, Deutsche COVID-19 Omics Initiative (DeCOI), Banovich NE, Desai T, Eickelberg 0, Haniffa M, Horvath P, Kropski JA, Lafyatis R, Lundeberg J, Meyer K, Nawijn MC, Nikolic M, Ordovas Montanes J, Pe'er D, Tata PR, Rawlins E, Regev A, Reyfman P, Samakovlis C, Schultze J, Shalek A, Shepherd D, Spence J, Teichmann S, Theis F, Tsankov A, van den Berge M, von Papen M, Whitsett J, Zaragosi LE, Angelov A, Bals R, Bartholomäus A, Becker A, Bezdan D, Bonifacio E, Bork P, Clavel T, Colme-Tatche M, Diefenbach A, Dilthey A, Fischer N, Förstner K, Frick JS, Gagneur J, Goesmann A, Hain T, Hummel M, Janssen S, Kalinowski J, Kallies R, Kehr B, Keller A, Kim-Hellmuth S, Klein C, Kohlbacher 0, Korbel JO, Kurth I, Landthaler M, Li Y, Ludwig K, Makarewicz 0, März M, McHardy A, Mertes C, Nöthen M, Nürnberg P, Ohler U, Ossowski S, Overmann J, Peter S, Pfeffer K, Poetsch AR, Pühler A, Rajewsky N, Kaiser M, Rieß 0, Ripke S, Nunes da Rocha U, Rosenstiel P, Saliba AE, Sander LE, Sawitzki B, Schiffer P, Schulte EC, Schultze JL, Sczyrba A, Stegle 0, Stoye J, Theis F, Vehreschild J, Vogel J, von Kleist M, Walker A, Walter J, Wieczorek D, Ziebuhr J. Immunity 2020 Dec 15;53(6):1296-1314.e9. doi: 10.1016/j.immuni.2020.11.017. Epub 2020 Nov 26. PMID: 33296687

Spinal muscular atrophy (5qSMA): best practice of diagnostics, newborn screening and therapy
Eggermann K, Glaeser D, Abicht A, Wirth B. Med. Genet. 2020;32(3): 263-272. doi: 10.1515/medgen-2020-2033

Clinical spectrum and management of imprinting disorders
Elbracht M, Binder G, Hiort O, Kiewert C, Kratz C, Eggermann T. Med. Genet. 2020;32(4): 321-334. doi: 10.1515/medgen-2020-2044

Charcot-Marie-Tooth neuropathy and pregnancy: general and specific issues
Rudnik-Schoeneborn S, Elbracht M. Med. Genet. 2020;32(3): 221-225. doi: 10.1515/medgen-2020-2031

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Senderek J, Lassuthova P, Kabziska D, Abreu L, Baets J, Beetz C, Braathen GJ, Brenner D, Dalton J, Dankwa L, Deconinck T, De Jonghe P, Dräger B, Eggemrann K, Ellis M, Fischer C, Stojkovic T, Herrmann DN, Horvath R, Hoyer H, Iglseder S, Kennerson M, Kinslechner K, Köhler JN, Kurth l, Laing NG, Lamont PJ, Löscher W, Ludolph A, Marques W, Nicholson G, Ong R, Petri S, Ravenscroft G, Rebelo A, Ricci G, Rudnik, Schöneborn S, Schirmacher A, Schlotter-Weigel B, Schoels L, Schule R, Synofzik M, Francou B, Strom TM, Wagner J, Walk D, Wanschitz J, Weinmann D, Weishaupt J, Wiessner M, Windhager R, Young P, Züchner S, Toegel S, Seeman P, Kochaski A, Auer-Grumbach M. Neurology 2020 Dec 15;95(24):e3163-e3179. doi: 10.1212/WNL.0000000000011132. Epub 2020 Nov 3. PMID: 33144514

Molecular testing for imprinting disorders
Beygo J, Kanber D, Eggermann T, Begemann M. Med. Genet. 2020;32(4): 305-319. doi: 10.1515/medgen-2020-2048

Peripheral sensory neuropathies – pain loss vs. pain gain
Cox James J, Woods CG, Kurth I. Med. Genet. 2020; 32(3): 233-241. doi: 10.1515/medgen-2020-2039

Imprinting disorders: novel findings and translation into diagnostics and management
Eggermann T, Horsthemke B. Med. Genet. 2020:32(4): 295-296. doi: 10.1515/medgen-2020-2041

Peripheral Neuropathies
Kurth I. Med. Genet. 2020;32(3): 193-194. doi: 10.1515/medgen-2020-2028

Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma.
Begemann M, Waszak SM, Robinson GW, Jäger N, Sharma T, Knopp C, Kraft F, Moser O, Mynarek M, Guerrini-Rousseau L, Brugieres L, Varlet P, Pietsch T, Bowers DC, Chintagumpala M, Sahm F, Korbel JO, Rutkowski S, Eggermann T, Gajjar A, Northcott P, Elbracht M, Pfister SM, Kontny U, Kurth I. J Clin Oncol. 2020 Jan 1;38(1):43-50. doi: 10.1200/JCO.19.00577. Epub 2019 Oct 14. PMID: 31609649

Kagami-Ogata syndrome: an important differential diagnosis to Beckwith-Wiedemann syndrome.
Altmann J, Horn D, Korinth D, Eggermann T, Henrich W, Verlohren S. J Clin Ultrasound. 2020 May;48(4):240-243. doi: 10.1002/jcu.22815. Epub 2020 Jan 28. PMID: 31994200

upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts.
Hjortshøj TD, Sørensen AR, Yusibova M, Hansen BM, Dunø M, Balslev-Harder M, Grønskov K, van Hagen JM, Polstra AM, Eggermann T, Finken MJJ, Tümer Z. Clin Genet. 2020 Jun;97(6):902-907. doi: 10.1111/cge.13727. Epub 2020 Mar 11. PMID: 32087029

Genetic barcoding reveals clonal dominance in iPSC-derived mesenchymal stromal cells.
Hollmann J, Brecht J, Goetzke R, Franzen J, Selich A, Schmidt M, Eipel M, Ostrowska A, Hapala J, Fernandez-Rebollo E, Müller-Newen G, Rothe M, Eggermann T, Zenke M, Wagner W. Stem Cell Res Ther. 2020 Mar 5;11(1):105. doi: 10.1186/s13287-020-01619-5. PMID: 32138773

Mutation analysis of multiple pilomatricomas in a patient with myotonic dystrophy type 1 suggests a DM1-associated hypermutation phenotype.
Rübben A, Wahl RU, Eggermann T, Dahl E, Ortiz-Brüchle N, Cacchi C. PLoS One. 2020 Mar 10;15(3):e0230003. doi: 10.1371/journal.pone.0230003. eCollection 2020. PMID: 32155193

Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome.
Eßinger C, Karch S, Moog U, Fekete G, Lengyel A, Pinti E, Eggermann T, Begemann M. Clin Epigenetics. 2020 May 11;12(1):63. doi: 10.1186/s13148-020-00856-y. PMID: 32393365

Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting.
Eggermann T, Kraft F, Lausberg E, Ergezinger K, Kunstmann E. J Med Genet. 2020 May 23:jmedgenet-2020-106868. doi: 10.1136/jmedgenet-2020-106868. Online ahead of print. PMID: 32447323

Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study.
Cöktü S, Spix C, Kaiser M, Beygo J, Kleinle S, Bachmann N, Kohlschmidt N, Prawitt D, Beckmann A, Klaes R, Nevinny-Stickel-Hinzpeter C, Döhnert S, Kraus C, Kadgien G, Vater I, Biskup S, Kutsche M, Kohlhase J, Eggermann T, Zenker M, Kratz CP. Br J Cancer. 2020 Aug;123(4):619-623. doi: 10.1038/s41416-020-0911-x. Epub 2020 May 26. PMID: 32451468

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Garcia Ramirez A, Germain-Lee EL, Groussin L, Hamdy NAT, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A. Horm Res Paediatr. 2020;93(3):182-196. doi: 10.1159/000508985. Epub 2020 Aug 5. PMID: 32756064

Patient with an autosomal-recessive MBTPS1-linked phenotype and clinical features of Silver-Russell syndrome.
Meyer R, Elbracht M, Opladen T, Eggermann T. Am J Med Genet A. 2020 Aug 28. doi: 10.1002/ajmg.a.61833. Online ahead of print. PMID: 32857899

Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important. 
Eggermann T, Brück J, Knopp C, Fekete G, Kratz C, Tasic V, Kurth I, Elbracht M, Eggermann K, Begemann M. J Mol Med (Berl). 2020 Aug 24. doi: 10.1007/s00109-020-01966-z. Online ahead of print. PMID: 32839827

Thyroid hormone induces cellular senescence in prostate cancer cells through induction of DEC1.
Kotolloshi R, Mirzakhani K, Ahlburg J, Kraft F, Pungsrinont T, Baniahmad A. J Steroid Biochem Mol Biol. 2020 Jul;201:105689. doi: 10.1016/j.jsbmb.2020.105689. Epub 2020 May 1. PMID: 32360904

Gain-of-function mutation in SCN11A causes itch and affects neurogenic inflammation and muscle function in Scn11a+/L799P mice.
Ebbinghaus M, Tuchscherr L, Segond von Banchet G, Liebmann L, Adams V, Gajda M, Hübner CA, Kurth I, Schaible HG. PLoS One. 2020 Aug 20;15(8):e0237101. doi: 10.1371/journal.pone.0237101. eCollection 2020. PMID: 32817686 Free PMC article.

Severe COVID-19 Is Marked by a Dysregulated Myeloid Cell Compartment.
Schulte-Schrepping J, Reusch N, Paclik D, Baßler K, Schlickeiser S, Zhang B, Krämer B, Krammer T, Brumhard S, Bonaguro L, De Domenico E, Wendisch D, Grasshoff M, Kapellos TS, Beckstette M, Pecht T, Saglam A, Dietrich O, Mei HE, Schulz AR, Conrad C, Kunkel D, Vafadarnejad E, Xu CJ, Horne A, Herbert M, Drews A, Thibeault C, Pfeiffer M, Hippenstiel S, Hocke A, Müller-Redetzky H, Heim KM, Machleidt F, Uhrig A, Bosquillon de Jarcy L, Jürgens L, Stegemann M, Glösenkamp CR, Volk HD, Goffinet C, Landthaler M, Wyler E, Georg P, Schneider M, Dang-Heine C, Neuwinger N, Kappert K, Tauber R, Corman V, Raabe J, Kaiser KM, Vinh MT, Rieke G, Meisel C, Ulas T, Becker M, Geffers R, Witzenrath M, Drosten C, Suttorp N, von Kalle C, Kurth F, Händler K, Schultze JL, Aschenbrenner AC, Li Y, Nattermann J, Sawitzki B, Saliba AE, Sander LE; Deutsche COVID-19 OMICS Initiative (DeCOI). Cell. 2020 Aug 5;182(6):1419-1440.e23. doi: 10.1016/j.cell.2020.08.001. Online ahead of print. PMID: 32810438 Free PMC article.

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
Hedberg-Oldfors C, Meyer R, Nolte K, Abdul Rahim Y, Lindberg C, Karason K, Thuestad IJ, Visuttijai K, Geijer M, Begemann M, Kraft F, Lausberg E, Hitpass L, Götzl R, Luna EJ, Lochmüller H, Koschmieder S, Gramlich M, Gess B, Elbracht M, Weis J, Kurth I, Oldfors A, Knopp C. Brain. 2020 Aug 1;143(8):2406-2420. doi: 10.1093/brain/awaa206. PMID: 32779703 Free PMC article.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Schneeberger PE, Kortüm F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier EM, Javaher-Haghighi P, Bedeschi MF, Ajmone PF, Iascone M, Peeters H, Ballon K, Jaeken J, Rodríguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A; Undiagnosed Diseases Network, Gelb BD, Kurth I, Hempel M, Kutsche K. Brain. 2020 Aug 1;143(8):2437-2453. doi: 10.1093/brain/awaa204. PMID: 32761064

Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies.
Meyer R, Begemann M, Demuth S, Kraft F, Dey D, Schüler H, Busse S, Häusler M, Zerres K, Kurth I, Eggermann T, Elbracht M. Clin Genet. 2020 Jul 27. doi: 10.1111/cge.13819. Online ahead of print. PMID: 32720325

Long-read sequencing to understand genome biology and cell function.
Kraft F, Kurth I. Int J Biochem Cell Biol. 2020 Sep;126:105799. doi: 10.1016/j.biocel.2020.105799. Epub 2020 Jul 3. PMID: 32629027 Review.

HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence.
Hübner CT, Meyer R, Kenawy A, Ambrozaityte L, Matuleviciene A, Kraft F, Begemann M, Elbracht M, Eggermann T. J Clin Endocrinol Metab. 2020 Jul 1;105(7):dgaa273. doi: 10.1210/clinem/dgaa273. PMID: 32421827

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN). 
Eggermann T, Elbracht M, Kurth I, Juul A, Johannsen TH, Netchine I, Mastorakos G, Johannsson G, Musholt TJ, Zenker M, Prawitt D, Pereira AM, Hiort O; European Reference Network on Rare Endocrine Conditions (ENDO-ERN. Orphanet J Rare Dis. 2020 Jun 8;15(1):144. doi: 10.1186/s13023-020-01420-w. PMID: 32513286 Free PMC article. Review.

Differential diagnosis of vacuolar myopathies in the NGS era. 
Mair D, Biskup S, Kress W, Abicht A, Brück W, Zechel S, Knop KC, Koenig FB, Tey S, Nikolin S, Eggermann K, Kurth I, Ferbert A, Weis J. Brain Pathol. 2020 Sep;30(5):877-896. doi: 10.1111/bpa.12864. Epub 2020 Jun 15. PMID: 32419263

Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy.
Schijven D, Stevelink R, McCormack M, van Rheenen W, Luykx JJ, Koeleman BPC, Veldink JH; Project MinE ALS GWAS Consortium; International League Against Epilepsy Consortium on Complex Epilepsies. Neurobiol Aging. 2020 Aug;92:153.e1-153.e5. doi: 10.1016/j.neurobiolaging.2020.04.011. Epub 2020 Apr 18. PMID: 32409253 Free article.

Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences.
Elbracht M, Mackay D, Begemann M, Kagan KO, Eggermann T. Hum Reprod Update. 2020 Feb 28;26(2):197-213. doi: 10.1093/humupd/dmz045. PMID: 32068234

Comparison of flow-FISH and MM-qPCR telomere length assessment techniques for the screening of telomeropathies.
Ferreira MSV, Kirschner M, Halfmeyer I, Estrada N, Xicoy B, Isfort S, Vieri M, Zamora L, Abels A, Bouillon AS, Begemann M, Schemionek M, Maurer A, Koschmieder S, Wilop S, Panse J, Brümmendorf TH, Beier F. Ann N Y Acad Sci. 2020 Apr;1466(1):93-103. doi: 10.1111/nyas.14248. Epub 2019 Oct 24. PMID: 31647584 Free article.

Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?
Müller-Felber W, Vill K, Schwartz O, Gläser D, Nennstiel U, Wirth B, Burggraf S, Röschinger W, Becker M, Durner J, Eggermann K, Müller C, Hannibal I, Olgemöller B, Schara U, Blaschek A, Kölbel H. J Neuromuscul Dis. 2020;7(2):109-117. doi: 10.3233/JND-200475. PMID: 32144995 Free PMC article.

A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability. 
Häusler MG, Begemann M, Lidov HG, Kurth I, Darras BT, Elbracht M. Eur J Med Genet. 2020 Apr;63(4):103826. doi: 10.1016/j.ejmg.2019.103826. Epub 2019 Dec 16. PMID: 31857255

Paroxysmal tonic upgaze: A heterogeneous clinical condition responsive to carbonic anhydrase inhibition.
Quade A, Thiel A, Kurth I, Holtgrewe M, Elbracht M, Beule D, Eggermann K, Scholl UI, Häusler M. Eur J Paediatr Neurol. 2020 Mar;25:181-186. doi: 10.1016/j.ejpn.2019.11.002. Epub 2019 Nov 20. PMID: 31810576

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations.
Much CD, Schwefel K, Skowronek D, Shoubash L, von Podewils F, Elbracht M, Spiegler S, Kurth I, Flöel A, Schroeder HWS, Felbor U, Rath M. Front Neurol. 2019 Nov 20;10:1219. doi: 10.3389/fneur.2019.01219. eCollection 2019. PMID: 31824402 Free PMC article.

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Florian RT, Kraft F, Leitão E, Kaya S, Klebe S, Magnin E, van Rootselaar AF, Buratti J, Kühnel T, Schröder C, Giesselmann S, Tschernoster N, Altmueller J, Lamiral A, Keren B, Nava C, Bouteiller D, Forlani S, Jornea L, Kubica R, Ye T, Plassard D, Jost B, Meyer V, Deleuze JF, Delpu Y, Avarello MDM, Vijfhuizen LS, Rudolf G, Hirsch E, Kroes T, Reif PS, Rosenow F, Ganos C, Vidailhet M, Thivard L, Mathieu A, Bourgeron T, Kurth I, Rafehi H, Steenpass L, Horsthemke B; FAME consortium, LeGuern E, Klein KM, Labauge P, Bennett MF, Bahlo M, Gecz J, Corbett MA, Tijssen MAJ, van den Maagdenberg AMJM, Depienne C.
Nat Commun. 2019 ;10(1):4919.

Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma.
Begemann M, Waszak SM, Robinson GW, Jäger N, Sharma T, Knopp C, Kraft F, Moser O, Mynarek M, Guerrini-Rousseau L, Brugieres L, Varlet P, Pietsch T, Bowers DC, Chintagumpala M, Sahm F, Korbel JO, Rutkowski S, Eggermann T, Gajjar A, Northcott P, Elbracht M, Pfister SM, Kontny U, Kurth I.
J Clin Oncol. 2019 :JCO1900577.
A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain.

A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain.
Huang J, Estacion M, Zhao P, Dib-Hajj FB, Schulman B, Abicht A, Kurth I, Brockmann K, Waxman SG, Dib-Hajj SD.
Front Neurosci. 2019 ;13:918.

Genetic Variants in the Promoter Region of the Macrophage Migration Inhibitory Factor are Associated with the Severity of Hepatitis C Virus-Induced Liver Fibrosis.
Wirtz TH, Fischer P, Backhaus C, Bergmann I, Brandt EF, Heinrichs D, Koenen MT, Schneider KM, Eggermann T, Kurth I, Stoppe C, Bernhagen J, Bruns T, Fischer J, Berg T, Trautwein C, Berres ML.
Int J Mol Sci. 2019 ;20(15).

Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia.
Meyer R, Schacht S, Buschmann L, Begemann M, Kraft F, Haag N, Kochs A, Schulze A, Kurth I, Elbracht M.
Bone. 2019 :446-451.

Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia.
Huppke P, Wegener E, Gilley J, Angeletti C, Kurth I, Drenth JPH, Stadelmann C, Barrantes-Freer A, Brück W, Thiele H, Nürnberg P, Gärtner J, Orsomando G, Coleman MP.
Exp Neurol. 2019 ,320:112958.

Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations.
Eggermann T, Begemann M, Kurth I, Elbracht M.
Eur J Med Genet. 2019 ,62(7):103671.

The CD98 Heavy Chain Is a Marker and Regulator of Head and Neck Squamous Cell Carcinoma Radiosensitivity.
Digomann D, Kurth I, Tyutyunnykova A, Chen O, Löck S, Gorodetska I, Peitzsch C, Skvortsova II, Negro G, Aschenbrenner B, Eisenhofer G, Richter S, Heiden S, Porrmann J, Klink B, Schwager C, Dowle AA, Hein L, Kunz-Schughart LA, Abdollahi A, Lohaus F, Krause M, Baumann M, Linge A, Dubrovska A.
Clin Cancer Res. 2019 ,25(10):3152-3163.

Plasma-derived Factor X therapy for treatment of intracranial bleeding in a patient with Factor X deficiency: a case report.
Grottke O, Moser O, Farrag A, Elbracht M, Orlikowsky T, Trepels-Kottek S.
Transfusion. 2019 ,59(7):2228-2233.

Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders: Characterization of Basic Mechanisms to Improve Clinical Management.
Wesseler K, Kraft F, Eggermann T.
Int J Mol Sci. 2019 ,20(17).

Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype.
Spier I, Engels H, Stutte S, Reutter H, Bartels E, Matos Meder S, Begemann M, Mangold E, Eggermann T.
Am J Med Genet A. 2019 ,179(11):2252-2256.

Comparison of flow-FISH and MM-qPCR telomere length assessment techniques for the screening of telomeropathies.
Ferreira MSV, Kirschner M, Halfmeyer I, Estrada N, Xicoy B, Isfort S, Vieri M, Zamora L, Abels A, Bouillon AS, Begemann M, Schemionek M, Maurer A, Koschmieder S, Wilop S, Panse J, Brümmendorf TH, Beier F.
Ann N Y Acad Sci. 2019.

Identification of transcription factor binding sites using ATAC-seq.
Li Z, Schulz MH, Look T, Begemann M, Zenke M, Costa IG.
Genome Biol. 2019 ,20(1):45.

Serotonergic Contributions to Human Brain Aggression Networks
Klasen, M; Wolf, D; Eisner, PD; Eggermann, T, Zerres, K; Zepf, FD (Zepf, Florian D.)[ 4,5,6,7 ] ; Weber, R (Weber, Rene)[ 8 ] ; Mathiak, K (Mathiak, Klaus)[ 1,2 ]
FRONTIERS IN NEUROSCIENCE, 13, DOI: 10.3389/fnins.2019.00042, Published: FEB 22 2019

Long-read sequencing in human genetics
Kraft, Florian; Kurth, Ingo
MEDIZINISCHE GENETIK (2019), 31 (2) 198-204, Special Issue SI: Published: JUN 2019

Genomic imprinting disorders: lessons on how genome, epigenome and environment interact.
Monk D, Mackay DJG, Eggermann T, Maher ER, Riccio A.
Nat Rev Genet. 2019 Apr;20(4):235-248. doi: 10.1038/s41576-018-0092-0. Review.

DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans
Karsai G, Kraft F , Haag N, Korenke GC, Hanisch B, Othman A, Suriyanarayanan S, Steiner R, Knopp C, Mull M, Bergmann M, Schroder JM, Weis J, Elbracht M, Begemann M, Hornemann T, Kurth I
Journal of clinical investigation. 2019;129(3): 1229-1239.

Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation.
Kraft F, Wesseler K, Begemann M, Kurth I, Elbracht M, Eggermann T
Clin Epigenetics. 2019;11(1): 30.

Generation of two induced pluripotent stem cell lines from skin fibroblasts of sisters carrying a c.1094C>A variation in the SCN10A gene potentially associated with small fiber neuropathy.
Klein T, Klug K, Henkel L, Kwok CK, Edenhofer F, Klopocki E, Kurth I, Üçeyler N
Stem Cell Res. 2019;35, Epub ahead of print.

Sepsis induces long-lasting impairments in CD4+ T-cell responses despite rapid numerical recovery of T-lymphocyte populations.
Ammer-Herrmenau C, Kulkarni U, Andreas N, Ungelenk M, Ravens S, Hübner C, Kather A, Kurth I, Bauer M, Kamradt T
Plos One. 2019;14(2).

A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways.
Behrendt L, Kurth I, Kaether C
Cell Mol Life Sci. 2019;76(7):1433-1445.

[Neuropathic pain syndromes and channelopathies].
Dohrn MF, Lampert A, Üçeyler N, Kurth I
Internist (Berl). 2019;60(1):90-97.

Pain relief in a neuropathy patient by lacosamide: Proof of principle of clinical translation from patient-specific iPS cell-derived nociceptors.
Namer B, Schmidt D, Eberhardt E, Maroni M^, Dorfmeister E, Kleggetveit IP, Kaluza L, Meents J, Gerlach A, Lin Z, Winterpacht A, Dragicevic E, Kohl Z, Schüttler J, Kurth I, Warncke T, Jorum E, Winner B, Lampert A
EBioMedicine. 2019 ;39:401-408.

Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.
Fortugno P, Angelucci F, Cestra G, Camerota L, Ferraro AS, Cordisco S, Uccioli L, Castiglia D, De Angelis B, Kurth I, Kornak U, Brancati
Hum Mutat. 2019 ;40(1):106-114.

Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution.
Krols M, Asselbergh B, De Rycke R, De Winter V, Seyer A, Müller FJ, Kurth I, Bultynck G, Timmerman V, Janssens S
Hum Mol Genet. 2019;28(4):615-627.

Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers.
Soellner L, Kraft F, Sauer S,Begemann M, Kurth I, Elbracht M, Eggermann T
Eur J Hum Genet. 2019;27(1):42-48.

PDE10A mutation in two sisters with a hyperkinetic movement disorder - Response to levodopa.
Knopp C, Häusler M, Müller B, Damen R, Stoppe A, Mull M, Elbracht M, Kurth I, Begemann M
Parkinsonism Relat Disord. 2019. Epub ahead of print.

Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndrome.
Neuheuser L,Meyer R, Begemann M, Elbracht M, Eggermann T
Mol Cell Probes. 2019; 44: 1-7.

Serotonergic Contributions to Human Brain Aggression Networks
Klasen M, Wolf D, Eisner PD, Eggermann T, Zerres K, Zepf FD, Weber R, Mathiak K
Front. Neurosci., 22 February 2019 | https://doi.org/10.3389/fnins.2019.00042

Human Genetics Academy - Annual Report 2018
Zerres K
MEDIZINISCHE GENETIK 2019; 31 (1): 29-32

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes
Mackay DJG, Bliek J, Lombardi MP, Russo S, Calzari L, Guzzetti S, Izzi C, Selicorni A, Melis D, Temple K, Maher E, Brioude F, Netchine I, Eggermann T
GENETICS RESEARCH 2019; 101, Epub ahead of print.

No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria.  
Olschok K, Vester U, Lahme S, Kurth I, Eggermann T
BMC Nephrol. 2018;19(1): 278.

Neural networks underlying trait aggression depend on MAOA gene alleles.
Klasen M, Wolf D, Eisner PD, Habel U, Repple J, Vernaleken I, Schlüter T, Eggermann T, Zerres K, Zepf FD, Mathiak K
Brain Struct Funct. 2018;223(2): 873-881.

Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering.
Krols M, Detry S, Asselbergh B, Almeida-Souza L, Kremer A, Lippens S, De Rycke R, De Winter V, Müller FJ, Kurth I, McMahon HT, Savvides SN, Timmerman V, Janssens S
Cell Rep. 2018;23(7): 2026-2038.

Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.
Braunisch MC, Gallwitz H, Abicht A, Diebold I, Holinski-Feder E, Van Maldergem L, Lammens M, Kovács-Nagy R, Alhaddad B, Strom TM, Meitinger T, Senderek J, Rudnik-Schöneborn S, Haack TB
Clin Genet. 2018;93(2): 255-265.

Molecular and clinical studies in 8 patients with Temple syndrome.
Gillessen-Kaesbach G, Albrecht B, Eggermann T, Elbracht M, Mitter D, Morlot S, van Ravenswaaij-Arts CMA, Schulz S, Strobl-Wildemann G, Buiting K, Beygo J
Clin Genet. 2018;93(6): 1179-1188.

Hereditary Neuropathies.
Eggermann K, Gess B, Häusler M, Weis J, Hahn A, Kurth I
Dtsch Arztebl Int. 2018;115(6): 91-97.

The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders.
Beygo J, Mertel C, Kaya S, Gillessen-Kaesbach G, Eggermann T, Horsthemke B, Buiting K
Epigenetics. 2018;13(8): 822-828.

Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains.
Monk D, Morales J, den Dunnen JT, Russo S, Court F, Prawitt D, Eggermann T, Beygo J, Buiting K, Tümer Z
Epigenetics. 2018;13(2): 117-121.

Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply.
Brioude F, Hennekam R, Bliek J, Coze C, Eggermann T, Ferrero GB, Kratz C, Bouc YL, Maas SM, Mackay DJG, Maher ER, Mussa A, Netchine I
Eur J Hum Genet. 2018;26(4): 471-472.

12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature.
Heldt F, Wallaschek H, Ripperger T, Morlot S, Illig T, Eggermann T, Schlegelberger B, Scholz C, Steinemann D
Eur J Med Genet. 2018.

Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia.
Dworschak GC, Engels H, Becker J, Soellner L, Eggermann T, Kipfmueller F, Müller A, Reutter H, Kreiß M
Front Pediatr. 2018;6: 116.

Noncoding copy-number variations are associated with congenital limb malformation.
Flöttmann R, Kragesteen BK, Geuer S, Socha M, Allou L, Sowi?ska-Seidler A, Bosquillon de Jarcy L, Wagner J, Jamsheer A, Oehl-Jaschkowitz B, Wittler L, de Silva D, Kurth I, Maya I, Santos-Simarro F, Hülsemann W, Klopocki E, Mountford R, Fryer A, Borck G, Horn D, Lapunzina P, Wilson M, Mascrez B, Duboule D, Mundlos S, Spielmann M
Genet Med. 2018;20(6): 599-607.

Beckwith Wiedemann Syndrome: First International Consensus Regarding Diagnosis and Clinical Management
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Krajewska-Walasek M, Kratz CP, Le Bouc Y, Maas SM, Ounap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skorka A, Tatton-Brown K, Tenorio J, Tortora C, Gronskov K, Netchine I, Hennekam RC, Prawitt D, Tumer Z, Eggermann T, Mackay DJG, Riccio A, Maher Eamonn R
Horm Res Paediatr. 2018;90(1): 427-428.

Diagnosis and Management of Pseudohypoparathyroidism and Related Disorders: First International Consensus Statement
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed F, Bufo R, Choplin T, DeFillipo G, Devernois G, Eggermann T, Elli FM, Freson K, Garcia Ramirez A, Germain-Lee E, Groussin L, Hamdy N, Hanna P, Hiort O, Juppner H, Kamenicky P, Knight N, Kottler M-L, Le Norcy E, Lecumberri B, Levine MA, Makiti O, Martin R, Angel Martos-Moreno G, Minagawa M, Muray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker A, Shore EM, Silve C, Turan S, Woods P, Zillikens M C, Perez de Nanclares G, Linglart A
Horm Res Paediatr. 2018;90 (1): 108-109.

Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database.
Tümer Z, López-Hernández JA, Netchine I, Elbracht M, Grønskov K, Gede LB, Sachwitz J, den Dunnen JT, Eggermann T
Hum Mutat. 2018;39(3): 345-364.

[Rational use of genetic tests in internal medicine : Possibilities and limitations of next generation sequencing diagnostics]. 
Elbracht M, Meyer R, Eggermann T, Kurth I
Internist (Berl). 2018;59(8): 756-765.

Maternal variants in and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.
Begemann M, Rezwan FI, Beygo J, Docherty LE, Kolarova J, Schroeder C, Buiting K, Chokkalingam K, Degenhardt F, Wakeling EL, Kleinle S, González Fassrainer D, Oehl-Jaschkowitz B, Turner CLS, Patalan M, Gizewska M, Binder G, Bich Ngoc CT, Chi Dung V, Mehta SG, Baynam G, Hamilton-Shield JP, Aljareh S, Lokulo-Sodipe O, Horton R, Siebert R, Elbracht M, Temple IK, Eggermann T, Mackay DJG
J Med Genet. 2018;55(7): 497-504.

Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease.
Burgmaier K, Kunzmann K, Ariceta G, Bergmann C, Buescher AK, Burgmaier M, Dursun I, Duzova A, Eid L, Erger F, Feldkoetter M, Galiano M, Geßner M, Goebel H, Gokce I, Haffner D, Hooman N, Hoppe B, Jankauskiene A, Klaus G, König J, Litwin M, Massella L, Mekahli D, Melek E, Mir S, Pape L, Prikhodina L, Ranchin B, Schild R, Seeman T, Sever L, Shroff R, Soliman NA, Stabouli S, Stanczyk M, Tabel Y, Taranta-Janusz K, Testa S, Thumfart J, Topaloglu R, Weber LT, Wicher D, Wühl E, Wygoda S, Yilmaz A, Zachwieja K, Zagozdzon I, Zerres K, ESCAPE Study Group , GPN Study Group , Dötsch J, Schaefer F, Liebau MC, ARegPKD consortium , Ranguelov N, Godefroid N, Collard L, Lombet J, Maquet J, Schalk G, Querfeld U, Beck BB, Benzing T, Buettner R, Grundmann F, Kurschat C, Benz K, Tzschoppe A, Buchholz B, Buescher R, Häffner K, Pohl M, Gross O, Krügel J, Stock J, Patzer L, Oh J, Bernhardt W, Doyon A, Vinke T, Sander A, Henn M, Derichs U, Beetz R, Jeck N, Lange-Sperandio B, Ponsel S, Kusser F, Uetz B, Benz M, Schmidt S, Huppertz-Kessler C, Kranz B, Titieni A, Wurm D, Leichter HE, Bald M, Billing H, Nabhan MM, Lara LE, Papachristou F, Emma F, Cerkauskiene R, Azukaitis K, Wasilewska A, Balasz-Chmielewska I, Miklaszewska M, Tkaczyk M, Sikora P, Zaniew M, Niemirska A, Antoniewicz J, Lesiak J, Afonso AC, Teixeira A, Milosevski-Lomic G, Paripovi D, Peco-Antic A, Papizh S, Bayazit AK, Anarat A, Soylu A, Kavukcu S, Candan C, Caliskan S, Canpolat N, Emre S, Alpay H, Akinci N, Conkar S, Poyrazoglu HM, Dusunsel R
J Pediatr. 2018;199: 22-28.e6.

NLRP genes and their role in preeclampsia and multi-locus imprinting disorders.
Soellner L, Kopp KM, Mütze S, Meyer R, Begemann M, Rudnik S, Rath W, Eggermann T, Zerres K
J Perinat Med. 2018;46(2): 169-173.

CTLA-4 Polymorphisms in Patients with IgA Nephropathy Correlate with Proteinuria.
Jacob M, Ohl K, Goodarzi T, Harendza S, Eggermann T, Fitzner C, Hilgers RD, Bolte A, Floege J, Rauen T, Tenbrock K
Kidney Blood Press Res. 2018;43(2): 360-366.

[Beckwith-Wiedemann Syndrome (BWS) Current Status of Diagnosis and Clinical Management: Summary of the First International Consensus Statement]. 
Elbracht M, Prawitt D, Nemetschek R, Kratz C, Eggermann T
Klin Padiatr. 2018;230(3): 151-159.

Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita.
Kirschner M, Maurer A, Wlodarski MW, Ventura Ferreira MS, Bouillon AS, Halfmeyer I, Blau W, Kreuter M, Rosewich M, Corbacioglu S, Beck J, Schwarz M, Bittenbring J, Radsak MP, Wilk CM, Koschmieder S, Begemann M, Kurth I, Schemionek M, Brümmendorf TH, Beier F
Leukemia. 2018;32(8): 1762-1767.

Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patients.
Eggermann T, Ledig S, Begemann M, Elbracht M, Kurth I, Wieacker P
Mol Genet Genomic Med. 2018;6(6): 1225-1228.

Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures.
Elbracht M, Kraft F, Begemann M, Holschbach P, Mull M, Kabat IM, Müller B, Häusler M, Kurth I, Hehr U

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol. 2018;14(4): 229-249.

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A
Nat Rev Endocrinol. 2018;14(8): 476-500.

Microangiopathy and mild mixed neuromyopathic alterations in a patient with homozygous PIEZO-2 mutation. 
Quade A, Weis J, Kurth I, Rolke R, Bienert M, Schrading S, Rohrmann D, Yüksel Z, Häusler M
Neuromuscul Disord. 2018;28(12): 1006-1011.

Identification of patients with classical and/or cryptic dyskeratosis congenita (DKC) by telomere length screening using different percentiles - results from the Aachen telomeropathy registry
Beier F, Kirschner M, Bouillon A-S, Halfmeyer I, Ferreira VenturaM, Kricheldorf K, Maurer A, Wilop S, Thol F, Roeth A, Platzbecker U, Radsak M, Ayuk FA, Corbacioglu S, Hoechsmann B, Wilk CM, Hinze C, Chromik J, Egle A, Bittenbring JT, Eggermann T, Kurth I, Koschmieder S, Schemionek M, Isfort S, Panse J, Bruemmendorf TH
Oncology research and treatment. 2018;41(4): 126-127.

MiR-145 expression and rare NOTCH1 variants in bicuspid aortic valve-associated aortopathy.
Girdauskas E, Petersen J, Neumann N, Ungelenk M, Kurth I, Reichenspurner H, Zeller
PLoS ONE. 2018;13(7): e0200205.

Publikationen 2017

Acute effect of intravenously applied alcohol in the human striatal and extrastriatal D2 /D3 dopamine system.
Pfeifer P, Tüscher O, Buchholz HG, Gründer G, Vernaleken I, Paulzen M, Zimmermann US, Maus S, Lieb K, Eggermann T, Fehr C, Schreckenberger M
Addict Biol. 2017 Sep;22(5):1449-1458.

Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation.
Castori M, Morlino S, Ungelenk M, Pareyson D, Salsano E, Grammatico P, Tolosano E, Kurth I, Chiabrando D
Am J Med Genet B Neuropsychiatr Genet. 2017 Oct;174(7):732-739.

Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.
Erger F, Brüchle NO, Gembruch U, Zerres K
Arch Gynecol Obstet. 2017;295(4): 897-906

Mutations in CRLF1 cause familial achalasia.
Busch A, Zarkovic M, Lowe C, Jankofsky M, Ganschow R, Buers I, Kurth I, Reutter H, Rutsch F, Hübner CA
Clin Genet. 2017;92(1): 104-108

NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features.
Sachwitz J, Meyer R, Fekete G, Spranger S, Matuleviciene A, Kucinskas V, Bach A, Luczay A, Brüchle NO, Eggermann K, Zerres K, Elbracht M, Eggermann T
Clin Genet. 2017;91(1): 73-78

Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself.
Scheuvens R, Begemann M, Soellner L, Meschede D, Raabe-Meyer G, Elbracht M, Schubert R, Eggermann T
Clin Genet. 2017;92(1): 45-51

Recent Advances in Imprinting Disorders.
Soellner L, Begemann M, Mackay DJ, Grønskov K, Tümer Z, Maher ER, Temple IK, Monk D, Riccio A, Linglart A, Netchine I, Eggermann T
Clin Genet. 2017;91(1): 3-13

The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing.
Vogl C, Butola T, Haag N, Hausrat TJ, Leitner MG, Moutschen M, Lefèbvre PP, Speckmann C, Garrett L, Becker L, Fuchs H, Hrabe de Angelis M, Nietzsche S, Kessels MM, Oliver D, Kneussel M, Kilimann MW, Strenzke N
EMBO Rep. 2017;18(11): 2015-2029

Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results.
Girdauskas E, Geist L, Disha K, Kazakbaev I, Groß T, Schulz S, Ungelenk M, Kuntze T, Reichenspurner H, Kurth I
Eur J Cardiothorac Surg. 2017;52(1): 156-162

New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.
Beygo J, Küchler A, Gillessen-Kaesbach G, Albrecht B, Eckle J, Eggermann T, Gellhaus A, Kanber D, Kordaß U, Lüdecke HJ, Purmann S, Rossier E, van de Nes J, van der Werf IM, Wenzel M, Wieczorek D, Horsthemke B, Buiting K
Eur J Hum Genet. 2017;25(8): 935-945

Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring.
Soellner L, Begemann M, Degenhardt F, Geipel A, Eggermann T, Mangold E
Eur J Hum Genet. 2017;25(8): 924-929

TELOMERE LENGTH SCREENING TRIGGERED BY CLINICAL SUSPICION FOR CLASSICAL AND/OR CRYPTIC DYSKERATOSIS CONGENITA - PROSPECTIVE RESULTS FROM THE AACHEN TELOMEROPATHY REGISTRY
Beier F, Kirschner M, Bouillon AS, Halfmeyer I, Ferreira MSV, Maurer A, Wilop S, Thol F, Roth A, Platzbecker U, Blau W, Ayuk FA, Corbacioglu S, Schrezenmeier H, Manz MG, Eggermann T, Zerres K, Koschmieder S, Schmemionek M, Isfort S, Panse J, Brummendorf TH
Haematologica. 2017;102 2: 62-62

The Diagnostic Value of IGF-2 and the IGF/IGFBP-3 System in Silver-Russell Syndrome.
Binder G, Eggermann T, Weber K, Ferrand N, Schweizer R
Horm Res Paediatr. 2017;88(3-4): 201-207

Cortico-limbic connectivity in MAOA-L carriers is vulnerable to acute tryptophan depletion.
Eisner P, Klasen M, Wolf D, Zerres K, Eggermann T, Eisert A, Zvyagintsev M, Sarkheil P, Mathiak KA, Zepf F, Mathiak K
Hum Brain Mapp. 2017;38(3): 1622-1635

Hereditary Sensory Polyneuropathy, Pain Insensitivity and Global Developmental Delay due to Novel Mutation in PRDM12 Gene.
Saini AG, Padmanabh H, Sahu JK, Kurth I, Voigt M, Singhi P
Indian J Pediatr. 2017;84(4): 332-333

Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.
Meyer R, Soellner L,Begemann M, Dicks S, Fekete G, Rahner N, Zerres K, Elbracht M, Eggermann T
J Pediatr. 2017;187: 206-212.e1

Spinale Muskelatrophien
Rudnik-Schoneborn S, Zerres K
Med. Genet. 2017;29(1): 21-32

Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy.
Coci EG, Codutti L, Fink C, Bartsch S, Grüning G, Lücke T, Kurth I, Riedel J
Mol Cell Probes. 2017;32: 18-23

Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction.
Chantot-Bastaraud S, Stratmann S, Brioude F, Begemann M, Elbracht M, Graul-Neumann L, Harbison M, Netchine I, Eggermann T
Mol Cytogenet. 2017;10: 28

Diagnosis and treatment of Silver-Russell syndrome. Summary of the first international consensus statement
Elbracht M, Mohnike K, Eggermann T, Binder G
Monatsschr Kinderheilkd. 2017;165(10): 895-904

Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.
Lu H, Galeano MCR, Ott E, Kaeslin G, Kausalya PJ, Kramer C, Ortiz-Brüchle N, Hilger N, Metzis V, Hiersche M, Tay SY, Tunningley R, Vij S, Courtney AD, Whittle B, Wühl E, Vester U, Hartleben B, Neuber S, Frank V, Little MH, Epting D, Papathanasiou P, Perkins AC, Wright GD, Hunziker W, Gee HY, Otto EA, Zerres K, Hildebrandt F, Roy S, Wicking C, Bergmann C
Nat Genet. 2017;49(7): 1025-1034

Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I
Nat Rev Endocrinol. 2017;13(2): 105-124

Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot.
King MK, Leipold E, Goehringer JM, Kurth I, Challman TD
Neurogenetics. 2017;18(3): 179-181

Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency.
Elbracht M, Mull M, Wagner N, Kuhl C, Abicht A, Kurth I, Tenbrock K, Häusler M
Neuropediatrics. 2017;48(2): 111-114

Detection of a homozygosity of a new nonsense mutation in the P5 N-1 coding gene in a case of pyrimidine-5-nucleotidase deficiency after thorough cytological diagnostic.
Kirschner MMJ, Koschmieder S, Manco L, Bento C, Kurth I, Eggermann T, Herwartz R, Jost E, Brummendorf TH, Fuchs R
Oncol Res Treat. 2017;40 3: 253-253

Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.
Bruechle NO, Steuernagel P, Zerres K, Kurth I, Eggermann T, Knopp C
Pediatr Nephrol. 2017;32(10): 1989-1992

Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations.
Ebner K, Dafinger C, Ortiz-Bruechle N, Koerber F, Schermer B, Benzing T, Dötsch J, Zerres K, Weber LT, Beck BB, Liebau MC
Pediatr Nephrol. 2017;32(7): 1269-1273

Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis?
Quade A, Wiesmann M, Weis J, Kurth I, Jalaie H, Rohrbach M, Häusler M
Pediatr Neurol. 2017;74: 92-96

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.
Rudnik-Schöneborn S, Tölle D, Senderek J, Eggermann K, Elbracht M, Kornak U, von der Hagen M, Kirschner J, Leube B, Müller-Felber W, Schara U, von Au K, Wieczorek D, Bußmann C, Zerres K
Clin Genet. 2016;89(1): 34-43

Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains.
Monk D, Morales J, den Dunnen JT, Russo S, Court F, Prawitt D, Eggermann T, Beygo J, Buiting K, Tümer Z
Epigenetics. 2016 (Epub ahead of print)

Preimplantation diagnosis in Europe
Geffroy S, Zerres K
Med Genet. 2016;28(3): 320-324

Social discourse on preimplantation diagnosis as reflected in debates and statements.
Zerres K, Scholz C
Med Genet. 2016;28(3): 342-349

Stroke-like onset of brain stem degeneration presents with unique MRI sign and heterozygous NMNAT2 variant: a case report.
Schulz A, Wagner F, Ungelenk M, Kurth I, Redecker C
Transl Neurodegener. 2016;5: 23

Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.
Chiabrando D, Castori M, di Rocco M, Ungelenk M, Gießelmann S, Di Capua M, Madeo A, Grammatico P, Bartsch S, Hübner CA, Altruda F, Silengo L, Tolosano E, Kurth I.
PLoS Genet. 2016 Dec 6;12(12):e1006461. doi: 10.1371/journal.pgen.1006461.

Influences of Pregnancy on Different Genetic Subtypes of Non-Dystrophic Myotonia and Periodic Paralysis.
Rudnik-Schöneborn S, Witsch-Baumgartner M, Zerres K.
Gynecol Obstet Invest. 2016;81(5):472-6. doi: 10.1159/000446944.

Formation of new chromatin domains determines pathogenicity of genomic duplications.
Franke M, Ibrahim DM, Andrey G, Schwarzer W, Heinrich V, Schöpflin R, Kraft K, Kempfer R, Jerković I, Chan WL, Spielmann M, Timmermann B, Wittler L, Kurth I, Cambiaso P, Zuffardi O, Houge G, Lambie L, Brancati F, Pombo A, Vingron M, Spitz F, Mundlos S.
Nature. 2016 Oct 5. doi: 10.1038/nature19800.

Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.
Rudnik-Schöneborn S, Deden F, Eggermann K, Eggermann T, Wieczorek D, Sellhaus B, Yamoah A, Goswami A, Claeys KG, Weis J, Zerres K.
Muscle Nerve. 2016 Sep;54(3):496-500. doi: 10.1002/mus.25114.

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.  
van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O, Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N, Lin K, Rogelj B, Vrabec K, Ravnik-Glavač M, Koritnik B, Zidar J, Leonardis L, Grošelj LD, Millecamps S, Salachas F, Meininger V, de Carvalho M, Pinto S, Mora JS, Rojas-García R, Polak M, Chandran S, Colville S, Swingler R, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Pittman A, Sidle K, Fratta P, Malaspina A, Topp S, Petri S, Abdulla S, Drepper C, Sendtner M, Meyer T, Ophoff RA, Staats KA, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin VM, Trojanowski JQ, Elman L, McCluskey L, Basak AN, Tunca C, Hamzeiy H, Parman Y, Meitinger T, Lichtner P, Radivojkov-Blagojevic M, Andres CR, Maurel C, Bensimon G, Landwehrmeyer B, Brice A, Payan CA, Saker-Delye S, Dürr A, Wood NW, Tittmann L, Lieb W, Franke A, Rietschel M, Cichon S, Nöthen MM, Amouyel P, Tzourio C, Dartigues JF, Uitterlinden AG, Rivadeneira F, Estrada K, Hofman A, Curtis C, Blauw HM, van der Kooi AJ, de Visser M, Goris A, Weber M, Shaw CE, Smith BN, Pansarasa O, Cereda C, Del Bo R, Comi GP, D'Alfonso S, Bertolin C, Sorarù G, Mazzini L, Pensato V, Gellera C, Tiloca C, Ratti A, Calvo A, Moglia C, Brunetti M, Arcuti S, Capozzo R, Zecca C, Lunetta C, Penco S, Riva N, Padovani A, Filosto M, Muller B, Stuit RJ; PARALS Registry; SLALOM Group; SLAP Registry; FALS Sequencing Consortium; SLAGEN Consortium; NNIPPS Study Group, Blair I, Zhang K, McCann EP, Fifita JA, Nicholson GA, Rowe DB, Pamphlett R, Kiernan MC, Grosskreutz J, Witte OW, Ringer T, Prell T, Stubendorff B, Kurth I, Hübner CA, Leigh PN, Casale F, Chio A, Beghi E, Pupillo E, Tortelli R, Logroscino G, Powell J, Ludolph AC, Weishaupt JH, Robberecht W, Van Damme P, Franke L, Pers TH, Brown RH, Glass JD, Landers JE, Hardiman O, Andersen PM, Corcia P, Vourc'h P, Silani V, Wray NR, Visscher PM, de Bakker PI, van Es MA, Pasterkamp RJ, Lewis CM, Breen G, Al-Chalabi A, van den Berg LH, Veldink JH.
Nat Genet. 2016 Sep;48(9):1043-8. doi: 10.1038/ng.3622. 

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome. 
Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, Ho D, Li X, Antonarakis SE, Brunner HG, Buiting K, Cheung SW, Coffee B, Eggermann T, Francis D, Geraedts JP, Gimelli G, Jacobson SG, Le Caignec C, de Leeuw N, Liehr T, Mackay DJ, Montgomery SB, Pagnamenta AT, Papenhausen P, Robinson DO, Ruivenkamp C, Schwartz C, Steiner B, Stevenson DA, Surti U, Wassink T, Sharp AJ.
Am J Hum Genet. 2016 Sep 1;99(3):555-66. doi: 10.1016/j.ajhg.2016.06.032. Epub 2016 Aug 25.

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, Pope K, Howell KB, McLean CA, Kornberg AJ, Joseph J, Lockhart PJ, Zerres K, Ryan MM, Nelson SF, Koehler CM, Jen JC.
Brain. 2016 Aug 20. pii: aww212.

Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances. 
Bens S, Kolarova J, Beygo J, Buiting K, Caliebe A, Eggermann T, Gillessen-Kaesbach G, Prawitt D, Thiele-Schmitz S, Begemann M, Enklaar T, Gutwein J, Haake A, Paul U, Richter J, Soellner L, Vater I, Monk D, Horsthemke B, Ammerpohl O, Siebert R.
Epigenomics. 2016 Jun;8(6):801-16. doi: 10.2217/epi-2016-0007. Epub 2016 Jun 20.

Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans. 
Sanchez-Delgado M, Riccio A, Eggermann T, Maher ER, Lapunzina P, Mackay D, Monk D.
Trends Genet. 2016 Jul;32(7):444-55. doi: 10.1016/j.tig.2016.05.001. Epub 2016 May 24. Review.

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome. 
Eggermann K, Bliek J, Brioude F, Algar E, Buiting K, Russo S, Tümer Z, Monk D, Moore G, Antoniadi T, Macdonald F, Netchine I, Lombardi P, Soellner L, Begemann M, Prawitt D, Maher ER, Mannens M, Riccio A, Weksberg R, Lapunzina P, Grønskov K, Mackay DJ, Eggermann T.
Eur J Hum Genet. 2016 May 11. doi: 10.1038/ejhg.2016.45. [Epub ahead of print]

Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation. 
Bohne F, Langer D, Martiné U, Eider CS, Cencic R, Begemann M, Elbracht M, Bülow L, Eggermann T, Zechner U, Pelletier J, Zabel BU, Enklaar T, Prawitt D.
Clin Epigenetics. 2016 May 4;8:47. doi: 10.1186/s13148-016-0215-4. eCollection 2016.

[Xanthinuria type 1 in a woman with arthralgias: a combined clinical and molecular genetic investigation]. 
Därr RW, Lenzner S, Eggermann T, Därr WH.
Dtsch Med Wochenschr. 2016 Apr;141(8):571-4. doi: 10.1055/s-0041-106053. Epub 2016 Apr 14. German.

Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes. 
Sachwitz J, Strobl-Wildemann G, Fekete G, Ambrozaitytė L, Kučinskas V, Soellner L, Begemann M, Eggermann T.
BMC Med Genet. 2016 Mar 11;17:20. doi: 10.1186/s12881-016-0280-8.

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.
Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schöneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hübner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M.
Am J Hum Genet. 2016 Mar 3;98(3):473-89. doi: 10.1016/j.ajhg.2016.01.006.

Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the S230L mutation of SMN1. 
Rudnik-Schöneborn S, Barisić N, Eggermann K, Ortiz Brüchle N, Grđan P, Zerres K.
Neuromuscul Disord. 2016 Feb;26(2):132-5. doi: 10.1016/j.nmd.2015.12.003. Epub 2015 Dec 22.

First report on concordant monozygotic twins with Silver-Russell syndrome and ICR1 hypomethylation. 
Riess A, Binder G, Ziegler J, Begemann M, Soellner L, Eggermann T.
Eur J Med Genet. 2016 Jan;59(1):1-4. doi: 10.1016/j.ejmg.2015.12.003. Epub 2015 Dec 10.

Microdeletions of the 7q32.2 imprinted region are associated with Silver-Russell syndrome features. 
Carrera IA, de Zaldívar MS, Martín R, Begemann M, Soellner L, Eggermann T.
Am J Med Genet A. 2016 Mar;170(3):743-9. doi: 10.1002/ajmg.a.37492. Epub 2015 Dec 10.

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci. 
Eggermann T, Perez de Nanclares G, Maher ER, Temple IK, Tümer Z, Monk D, Mackay DJ, Grønskov K, Riccio A, Linglart A, Netchine I.
Clin Epigenetics. 2015 Nov 14;7:123. doi: 10.1186/s13148-015-0143-8. eCollection 2015. Review. Erratum in: Clin Epigenetics. 2016;8:27.

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling. 
Eggermann T, Brioude F, Russo S, Lombardi MP, Bliek J, Maher ER, Larizza L, Prawitt D, Netchine I, Gonzales M, Grønskov K, Tümer Z, Monk D, Mannens M, Chrzanowska K, Walasek MK, Begemann M, Soellner L, Eggermann K, Tenorio J, Nevado J, Moore GE, Mackay DJ, Temple K, Gillessen-Kaesbach G, Ogata T, Weksberg R, Algar E, Lapunzina P.
Eur J Hum Genet. 2016, 24(6): 784-793.

MAOA-VNTR polymorphism modulates context-dependent dopamine release and aggressive behavior in males. 
Schlüter T, Winz O, Henkel K, Eggermann T, Mohammadkhani-Shali S, Dietrich C, Heinzel A, Decker M, Cumming P, Zerres K, Piel M, Mottaghy FM, Vernaleken I.
Neuroimage. 2016, 125: 378-385. doi: 10.1016/j.neuroimage.2015.10.031. Epub 2015 Oct 16.

No major contribution of IGF2 variants to the etiology of sporadic 11p15-associated imprinting disorders. 
Müller A, Soellner L, Binder G, Begemann M, Eggermann T.
Am J Med Genet A. 2016, 18(4):309-315.

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure. 
Mulchandani S, Bhoj EJ, Luo M, Powell-Hamilton N, Jenny K, Gripp KW, Elbracht M, Eggermann T, Turner CL, Temple IK, Mackay DJ, Dubbs H, Stevenson DA, Slattery L, Zackai EH, Spinner NB, Krantz ID, Conlin LK.
Genet Med. 2016 Apr;18(4):309-15. doi: 10.1038/gim.2015.103. Epub 2015 Aug 6.

No association of IL-12p40 pro1.1 polymorphism with juvenile idiopathic arthritis.
Eberhardt CS, Haas JP, Girschick H, Schwarz T, Morbach H, Rösen-Wolff A, Foell D, Dannecker G, Schepp C, Ganser G, Honke N, Eggermann T, Müller-Berghaus J, Wagner N, Ohl K, Tenbrock K.
Pediatr Rheumatol Online J. 2015 Dec 15;13:61. doi: 10.1186/s12969-015-0059-z.
 

The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.
Vals MA, Yakoreva M, Kahre T, Mee P, Muru K, Joost K, Teek R, Soellner L, Eggermann T, Õunap K.
Genet Test Mol Biomarkers. 2015 Dec;19(12):684-91.
 

Alcohol Consumption in Healthy OPRM1 G Allele Carriers and Its Association with Impulsive Behavior.
Pfeifer P, Sariyar M, Eggermann T, Zerres K, Vernaleken I, Tüscher O, Fehr C
Alcohol Alcohol. 2015;50(4): 379-84　
 

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. 
Schueler M, Braun DA, Chandrasekar G, Gee HY, Klasson TD, Halbritter J, Bieder A, Porath JD, Airik R, Zhou W, LoTurco JJ, Che A, Otto EA, Böckenhauer D, Sebire NJ, Honzik T, Harris PC, Koon SJ, Gunay-Aygun M, Saunier S, Zerres K, Bruechle NO, Drenth JP, Pelletier L, Tapia-Páez I, Lifton RP, Giles RH, Kere J, Hildebrandt F
Am J Hum Genet. 2015;96(1): 81-92
 

Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome. 
Knopp C, Rudnik-Schöneborn S, Zerres K, Gencik M, Spengler S, Eggermann T
Am J Med Genet A. 2015;167A(1): 151-5　
 

A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype. 
Kordaß U, Schröder C, Elbracht M, Soellner L, Eggermann T
Am J Med Genet A. 2015;167A(5): 1121-4
 

Rationale, design and objectives of ARegPKD, a European ARPKD registry study. 
Ebner K, Feldkoetter M, Ariceta G, Bergmann C, Buettner R, Doyon A, Duzova A, Goebel H, Haffner D, Hero B, Hoppe B, Illig T, Jankauskiene A, Klopp N, König J, Litwin M, Mekahli D, Ranchin B, Sander A, Testa S, Weber LT, Wicher D, Yuzbasioglu A, Zerres K, Dötsch J, Schaefer F, Liebau MC, ESCAPE Study Group , GPN Study Group , Cachat F, Seeman T, Bruechle N, Querfeld U, Kirschstein M, Benz K, Buescher R, Latta K, Pohl M, Gross O, Patzer L, Kemper M, Pape L, Bernhardt W, Wuehl E, Beck B, Benzing T, Wygoda S, Wiemann D, Klaus G, Fehrenbach H, Wallot M, Lange-Sperandio B, Uetz B, Kranz B, Boeswald M, Staude H, Leichter HE, Billing H, Beringer O, Ilmoja ML, Lara L, Sallay P, Ardissino G, Emma F, Cerkauskiene R, Drozdz D, Niemirska A, Szczepanska M, Zaniew M, Paripovi? D, Anarat A, Baskin E, Caliskan S, Candan C, Emre S, Dursun I, Ekinci Z, Delibas A, Kerecuk L, Guay-Woodford L
BMC Nephrol. 2015;16: 22
 

Multilocus methylation defects in imprinting disorders. 
Mackay DJ, Eggermann T, Buiting K, Garin I, Netchine I, Linglart A, de Nanclares GP
Biomol Concepts. 2015;6(1): 47-57
 

Effect of MAOA Genotype on Resting-State Networks in Healthy Participants. 
Clemens B, Voß B, Pawliczek C, Mingoia G, Weyer D, Repple J, Eggermann T, Zerres K, Reetz K, Habel U
Cereb Cortex. 2015;25(7): 1771-81
 

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care. 
Eggermann T, Netchine I, Temple IK, Tümer Z, Monk D, Mackay D, Grønskov K, Riccio A, Linglart A, Maher ER
Clin Epigenetics. 2015;7(1): 23
 

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci. 
Eggermann T, Perez de Nanclares G, Maher ER, Temple IK, Tümer Z, Monk D, Mackay DJ, Grønskov K, Riccio A, Linglart A, Netchine I
Clin Epigenetics. 2015;7: 123
 

Adult phenotype of Russell-Silver syndrome: A molecular support for Barker-Brenner's theory. 
Takenouchi T, Awazu M, Eggermann T, Kosaki K
Congenit Anom (Kyoto). 2015;55(3): 167-9
 

Genetic variation in the G72 gene is associated with increased frontotemporal fiber tract integrity. 
Nickl-Jockschat T, Stöcker T, Krug A, Markov V, Maximov II, Huang R, Schneider F, Habel U, Eickhoff SB, Zerres K, Nöthen MM, Rietschel M, Jon Shah N, Treutlein J, Kircher T 
Eur Arch Psychiatry Clin Neurosci. 2015;265(4): 291-301
 

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32. 
Beygo J, Elbracht M, de Groot K, Begemann M, Kanber D, Platzer K, Gillessen-Kaesbach G, Vierzig A, Green A, Heller R, Buiting K, Eggermann T
Eur J Hum Genet. 2015;23(2): 180-8
 

Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015.
Rudnik-Schöneborn S, Eggermann T, Kress W, Lemmink HH, Cobben JM, Zerres K
Eur J Hum Genet. 2015;23(11)
 

Myotonic dystrophies: clinical presentation, pathogenesis, diagnostics and therapy. 
Finsterer J, Rudnik-Schöneborn S
Fortschr Neurol Psychiatr. 2015;83(1): 9-17
 

The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome. 
Vals MA, Yakoreva M, Kahre T, Mee P, Muru K, Joost K, Teek R, Soellner L, Eggermann T, Õunap K
Genet Test Mol Biomarkers. 2015;19(12): 684-691
 

Polymorphisms in melanoma differentiation-associated gene 5 link protein function to clearance of hepatitis C virus. 
Hoffmann FS, Schmidt A, Dittmann Chevillotte M, Wisskirchen C, Hellmuth J, Willms S, Gilmore RH, Glas J, Folwaczny M, Müller T, Berg T, Spengler U, Fitzmaurice K, Kelleher D, Reisch N, Rice CM, Endres S, Rothenfusser S
Hepatology. 2015;61(2): 460-70
 

Lipocalin-2 Is a Disease Activity Marker in Inflammatory Bowel Disease Regulated by IL-17A, IL-22, and TNF-? and Modulated by IL23R Genotype Status. 
Stallhofer J, Friedrich M, Konrad-Zerna A, Wetzke M, Lohse P, Glas J, Tillack-Schreiber C, Schnitzler F, Beigel F, Brand S
Inflamm Bowel Dis. 2015;21(10): 2327-40
 

Rationale, design and objectives of ARegPKD, a European ARPKD registry study. 
Ebner Kathrin, Feldkoetter Markus, Ariceta Gema, Bergmann Carsten, Buettner Reinhard, Doyon Anke, Duzova Ali, Goebel Heike, Haffner Dieter, Hero Barbara, Hoppe Bernd, Illig Thomas, Jankauskiene Augustina, Klopp Norman, Koenig Jens, Litwin Mieczyslaw, Mekahli Djalila, Ranchin Bruno, Sander Anja, Testa Sara, Weber LutzThorst, Wicher Dorota, Yuzbasioglu Ayse, Zerres Klaus, Doetsch Joerg, Schaefer Franz, Liebau MaxChristo
Int J Pediatr Nephrol. 2015;30(9): 1673-1674
 

Chromosome 14-associated imprinting syndrome - Temple and Kagami-Ogata syndrome. A clinical and molecular update 
Elbracht Miriam, Buiting Karin, Bens Susanne, Siebert Reiner, Horsthemke Bernhard, Gillessen-Kaesbach Gabriele, Eggermann Thomas
Med. Genet.. 2015;27(2): 247-253
 

Core Competencies of the Fields of Expertise of Human Genetics in todays medical Care 
Kohlschmidt Nicolai, Zerres Klaus
Med. Genet.. 2015;27(1): 31-32
 

Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing. 
Knopp C, Rudnik-Schöneborn S, Eggermann T, Bergmann C, Begemann M, Schoner K, Zerres K, Ortiz Brüchle N
Mol Cell Probes. 2015;29(5): 299-307
 

Congenital imprinting disorders: Application of multilocus and high throughput methods to decipher new pathomechanisms and improve their management. 
Soellner L, Monk D, Rezwan FI, Begemann M, Mackay D, Eggermann T
Mol Cell Probes. 2015;29(5): 282-90
 

Paternally Inherited IGF2 Mutation and Growth Restriction. 
Begemann M, Zirn B, Santen G, Wirthgen E, Soellner L, Büttel HM, Schweizer R, van Workum W, Binder G, Eggermann T
N Engl J Med. 2015;373(4): 349-56
 

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans. 
Docherty LE, Rezwan FI, Poole RL, Turner CL, Kivuva E, Maher ER, Smithson SF, Hamilton-Shield JP, Patalan M, Gizewska M, Peregud-Pogorzelski J, Beygo J, Buiting K, Horsthemke B, Soellner L, Begemann M, Eggermann T, Baple E, Mansour S, Temple IK, Mackay DJ
Nat Commun. 2015;6: 8086
 

Genetic dosage compensation via co-occurrence of PMP22 duplication and PMP22 deletion. 
Hirt N, Eggermann K, Hyrenbach S, Lambeck J, Busche A, Fischer J, Rudnik-Schöneborn S, Gaspar H Neurology. 2015;84(15): 1605-6
 

Dissecting Genomic Aberrations in Myeloproliferative Neoplasms by Multiplex-PCR and Next Generation Sequencing. 
Kirschner MM, Schemionek M, Schubert C, Chatain N, Sontag S, Isfort S, Ortiz-Brüchle N, Schmitt K, Krüger L, Zerres K, Zenke M, Brümmendorf TH, Koschmieder S
PLoS ONE. 2015;10(4): e0123476
 

In vivo investigations of the effect of short- and long-term recombinant growth hormone treatment on DNA-methylation in humans. 
Kolarova J, Ammerpohl O, Gutwein J, Welzel M, Baus I, Riepe FG, Eggermann T, Caliebe A, Holterhus PM, Siebert R, Bens S
PLoS ONE. 2015;10(3): e0120463
 

The NOD2 Single Nucleotide Polymorphism rs72796353 (IVS4+10 A>C) Is a Predictor for Perianal Fistulas in Patients with Crohn's Disease in the Absence of Other NOD2 Mutations.
Schnitzler F, Friedrich M, Wolf C, Stallhofer J, Angelberger M, Diegelmann J, Olszak T, Tillack C, Beigel F, Göke B, Glas J, Lohse P, Brand S
PLoS ONE. 2015;10(7): e0116044
 

Mosaicism and uniparental disomy in prenatal diagnosis. 
Eggermann T, Soellner L, Buiting K, Kotzot D
Trends Mol Med. 2015;21(2): 77-87
 

[Non-invasive Genetic Prenatal Testing - A Serious Challenge for Society as a Whole].
Zerres K
Z Geburtshilfe Neonatol. 2015;219(2): 69-72

Cystinuria in a Girl Presenting with a Hyperechogenic Colon Detected by Prenatal Ultrasonography and a New SLC3A1 Gene Mutation (p.Phe278Ser). Case Report.
Buxmann H, Eggermann T, Lorenz D, Sewell AC, Böhles H, Schlößer RL, Merz E.
Georg Thieme Verlag, Stuttgart 2014.

Epigenetik. Molekulare Mechanismen der frühen Prägung.
Eggermann, T
Gynäkologische Endokrinolgoie 12: 74-78 (2014)

A Neuregulin-1 schizophrenia susceptibility variant causes perihippocampal fiber tract anomalies in healthy young subjects.
Nickl-Jockschat T, Stöcker T, Krug A, Markov V, Huang R, Schneider F, Habel U, Eickhoff SB, Zerres K, Nöthen MM, Treutlein J, Rietschel M, Shah NJ, Kircher T.
Brain Behav 4(2):215-226 (2014)

Effect of MAOA Genotype on Resting-State Networks in Healthy Participants.
Clemens B, Voß B, Pawliczek C, Mingoia G, Weyer D, Repple J, Eggermann T, Zerres K,Reetz K, Habel U.
Cereb Cortex 2014, Jan 22 [Epub ahead of print]

Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?
Poretti A, Häusler M, von Moers A, Baumgartner B, Zerres K, Klein A, Aiello C, Moro F, Zanni G, Santorelli FM, Huisman TA, Weis J, Valente EM, Bertini E, Boltshauser E
Cerebellum. 2014 Feb;13(1):79-88. doi: 10.1007/s12311-013-0521-8.

Congenital mirror movements: Mutational analysis of RAD51 and DCC in 26 cases. Méneret A, Depienne C, Riant F, Trouillard O, Bouteiller D, Cincotta M, Bitoun P, Wickert J, Lagroua I, Westenberger A, Borgheresi A, Doummar D, Romano M, Rossi S, Defebvre L, De Meirleir L, Espay AJ, Fiori S, Klebe S, Quélin C, Rudnik-Schöneborn S, Plessis G, Dale RC, Sklower Brooks S, Dziezyc K, Pollak P, Golmard JL, Vidailhet M, Brice A, Roze E.
Neurology. 2014 May 7. [Epub ahead of print], PMID: 24808016

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.
Spiegler S, Najm J, Liu J, Gkalympoudis S, Schröder W, Borck G, Brockmann K, Elbracht M, Fauth C, Ferbert A, Freudenberg L, Grasshoff U, Hellenbroich Y, Henn W, Hoffjan S, Hüning I, Korenke GC, Kroisel PM, Kunstmann E, Mair M, Munk-Schulenburg S, Nikoubashman O, Pauli S, Rudnik-Schöneborn S, Sudholt I, Sure U, Tinschert S, Wiednig M, Zoll B, Ginsberg MH, Felbor U.,
Mol Genet Genomic Med. 2014 Mar;2(2):176-85. doi: 10.1002/mgg3.60. Epub 2014 Jan 14., PMID: 24689081

Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?
Shababi M, Lorson CL, Rudnik-Schoneborn S
Journal of Anatomy 224 (1): 15-28 (2014)

Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.
Eggermann T, Heilsberg AK, Bens S, Siebert R, Beygo J, Buiting K, Begemann M, Soellner L. J Mol Med (Berl). 2014 Mar 23

CTLA4 Polymorphisms in Minimal Change Nephrotic Syndrome in Children: A Case-Control Study.
Ohl K, Eberhardt C, Spink C, Zahn K, Wagner N, Eggermann T, Kemper MJ, Querfeld U, Hoppe B, Harendza S, Tenbrock K.
Am J Kidney Dis. 2014 Mar 19. pii: S0272-6386(14)00521-6. doi: 10.1053/j.ajkd.2014.01.427.

Effect of MAOA Genotype on Resting-State Networks in Healthy Participants.

Clemens B, Voß B, Pawliczek C, Mingoia G, Weyer D, Repple J, Eggermann T, Zerres K, Reetz K, Habel U.
Cereb Cortex. 2014 Jan 22

Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: Characterization and evaluation of the aberrations.
Schwanitz G, Hagh JK, Rad IA, Omrani MD, Gamerdinger U, Schubert R, Elbracht M, Eggermann T, Eggermann K, Spengler S, Schüler H, Gogiel M.
Am J Med Genet A. 2014 Mar;164(3):736-40

Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup.
Kummer S, Venghaus A, Schlune A, Leube B, Eggermann T, Spiekerkoetter U. Pediatr Nephrol. 2014 Jan;29(1):155-9. doi: 10.1007/s00467-013-2617-2. Epub 2013 Sep 19.

Clinical utility gene card for: Beckwith-Wiedemann Syndrome.
Eggermann T, Algar E, Lapunzina P, Mackay D, Maher ER, Mannens M, Netchine I, Prawitt D, Riccio A, Temple IK, Weksberg R.
Eur J Hum Genet. 2014 Mar;22(3).

Isolated hypermethylation of GRB10 (7p12.2) in a Silver-Russell syndrome patient carrying a 20p13 microdeletion.
Eggermann T, Schneider-Rätzke B, Begemann M, Spengler S.
Clin Genet. 2014 Apr;85(4):399-400. doi: 10.1111/cge.12186. Epub 2013 Jun 10.

Västinsalo H, Jalkanen R, Bergmann C, Neuhaus C, Kleemola L, Jauhola L, Bolz HJ, Sankila EM
Extended mutation spectrum of Usher syndrome in Finland. Acta Ophthalmol. 2013;91(4): 325-34

Neveling Kornelia, Martinez-Carrera LilianA, Hoelker Irmgard, Heister Angelien, Verrips Aad, Hosseini-Barkooie SeyyedMohs, Gilissen Christian, Vermeer Sascha, Pennings Maartje, Meijer Rowdy, te Riele Margot, Frijns CatharinaJ, Suchowersky Oksana, MacLaren Linda, Rudnik-Schoeneborn Sabine, Sinke RichardJ, Zerres Klaus, Lowry RBrian, Lemmink HennyH, Garbes Lutz, Veltman JorisA, Schelhaas HeleniusJ, Scheffer Hans, Wirth Brunhilde
Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy. Am J Hum Genet. 2013;92(6): 946-954

Roos A, von Kaisenberg CS, Eggermann T, Schwanitz G, Löffler C, Weise A, Mrasek K, Junge A, Caliebe A, Belitz B, Kautza M, Schüler H, Zerres K, Heidemann S
Analysis of SYCP3 encoding synaptonemal complex protein 3 in human aneuploidies. Arch Gynecol Obstet. 2013;288(5): 1153-8

Schroeder C, Sturm M, Dufke A, Mau-Holzmann U, Eggermann T, Poths S, Riess O, Bonin M
UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays. Bioinformatics. 2013;29(12): 1562-4

Eggermann T, Soellner L, Bens S, Spengler S, Siebert R, Buiting K, Horsthemke B, Begemann M
Molekulargenetische Diagnostik von Imprinting-Erkrankungen. Biospektrum 19:753-758 (2013)

Krieger M, Roos A, Stendel C, Claeys KG, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. Brain. 2013;136(Pt 12): 3634-44

Eggermann T, Spengler S, Denecke B, Zerres K, Mache CJ
Multi-exon deletion in the XDH gene as a cause of classical xanthinuria.
Clin Nephrol. 2013;79(1): 78-80

Zerres, K
Das Gendiagnostikgesetz. Zur Debatte. Themen der Katholischen Akademie Bayern 1/2013:11-12

Bens S, Haake A, Richter J, Leohold J, Kolarova J, Vater I, Riepe FG, Buiting K, Eggermann T, Gillessen-Kaesbach G, Platzer K, Prawitt D, Caliebe A, Siebert R
Frequency and characterization of DNA methylation defects in children born SGA. Eur J Hum Genet. 2013;21(8): 838-43

Gogiel M, Begemann M, Spengler S, Soellner L, Göretzlehner U, Eggermann T, Strobl-Wildemann G
Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour. Eur J Hum Genet. 2013;21(7): 788-91

Zerres K, Glas J, Eggermann T, Rudnik-Schöneborn S
Prinzipien der humangenetischen Beratung und genetischen Diagnostik in der Gastroenterologie. Gastroenterologe 8(4):287-295(2013)

Ellinghaus D, Zhang H, Zeissig S, Lipinski S, Till A, Jiang T, Stade B, Bromberg Y, Ellinghaus E, Keller A, Rivas MA, Skieceviciene J, Doncheva NT, Liu X, Liu Q, Jiang F, Forster M, Mayr G, Albrecht M, Häsler R, Boehm BO, Goodall J, Berzuini CR, Lee J, Andersen V, Vogel U, Kupcinskas L, Kayser M, Krawczak M, Nikolaus S, Weersma RK, Ponsioen CY, Sans M, Wijmenga C, Strachan DP, McArdle WL, Vermeire S, Rutgeerts P, Sanderson JD, Mathew CG, Vatn MH, Wang J, Nöthen MM, Duerr RH, Büning C, Brand S, Glas J, Winkelmann J, Illig T, Latiano A, Annese V, Halfvarson J, D'Amato M, Daly MJ, Nothnagel M, Karlsen TH, Subramani S, Rosenstiel P, Schreiber S, Parkes M, Franke A
Association Between Variants of PRDM1 and NDP52 and Crohn's Disease, Based on Exome Sequencing and Functional Studies.
Gastroenterology. 2013;145(2): 339-47

Gouttenoire EA, Lupo V, Calpena E, Bartesaghi L, Schüpfer F, Médard JJ, Maurer F, Beckmann JS, Senderek J, Senderek J, Palau F, Espinós C, Chrast R
Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.
Glia. 2013;61(7): 1041-51

Binder G, Liebl M, Woelfle J, Eggermann T, Blumenstock G, Schweizer R
Adult height and epigenotype in children with Silver-Russell syndrome treated with GH.
Horm Res Paediatr. 2013;80(3): 193-200

Frank V, Habbig S, Bartram MP, Eisenberger T, Veenstra-Knol HE, Decker C, Boorsma RA, Göbel H, Nürnberg G, Griessmann A, Franke M, Borgal L, Kohli P, Völker LA, Dötsch J, Nürnberg P, Benzing T, Bolz HJ, Johnson C, Gerkes EH, Schermer B, Bergmann C
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.
Hum Mol Genet. 2013;22(11): 2177-85

Eggermann T, Elbracht M, Schröder C, Reutter H, Soellner L, Spengler S, Begemann M
Congenital imprinting disorders: a novel mechanism linking seemingly unrelated disorders.  J Pediatr. 2013;163(4): 1202-7

Awater C, Zerres K, Rudnik-Schoeneborn S
Pregnancy course and obstetric risks in 178 women with hereditary neuromuscular disorders
Med. Genet.2013;25(3): 365

Eggermann T, Begemann M, Soellner L, Elbracht M, Buiting K, Horsthemke B, Spengler S
Molecular diagnosis of imprinting disorders. Relevance of multilocus methylation defects
Med. Genet. 2013;25(1): 5

Langer S, Rudnik-Schoeneborn S, Zerres K, Grimm T
Genetic model of autosomal recessive proximal spinal muscular atrophy
Med. Genet. 2013;25(3): 337-346

Rudnik-Schoeneborn S, Lorson CL, Shababi M
Infantile spinal muscular atrophy: more than a motor neuron disease?
Med. Genet. 2013;25(3): 347-351

Rudnik-Schoeneborn Sabine, Zerres Klaus,
Deutsche Gesellschaft für Humangenetik eV
Statement of the German Society for Human Genetics on genetic Diagnosis in Children and Adolescents
Med. Genet. 2013;25(3): 395-397

Schwanitz Gesa, Eggermann Thomas
Genetics, Prof. Dr. Max Werner Gottschalk, Founder and Director of the Institute of Genetics, University of Bonn, has works published
Med. Genet. 2013;25(2): 292-292

Zerres Klaus
Prof. Dr. med. Jan Murken, Geneticist, has works published
Med. Genet. 2013;25(3): 398-399

Zerres Klaus, Heidemann Simone, Kehrer-Sawatzki Hildegard, Kress Wolfram, Wieacker Peter, Rudnik-Schoeneborn Sabine, Hehr Ute, Henn Wolfram, Moog Ute, Zenker Martin, Zschocke Johannes
Deutschen Gesell Humangenetik EV Statement of the German Society for Human Genetics on genetic Additional Findings in Diagnosis and Research
Med. Genet. 2013;25(2): 284-286

Zerres Klaus
Human genetics, Bernhard Horsthemke, epigeneticist, has works published
Med. Genet. 2013;25(2): 287-288

Zerres K, Rudnik-Schoeneborn S
Moto-Neuron Diseases - many Facets
Med. Genet. 2013;25(3): 328-329

Spengler S, Oehl-Jaschkowitz B, Begemann M, Hennes P, Zerres K, Eggermann T
Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome.
Mol Syndromol. 2013;4(5): 246-9

Spengler S, Begemann M, Eggermann K, Zerres K, Bruechle Ortiz N, Seidel H, Rudnik-Schoeneborn S, Eggermann T
Use of molecular karyotyping in pediatrics
Monatsschr Kinderheilkd. 2013;161(7): 633-641

Ellinghaus D, Baurecht H, Esparza-Gordillo J, Rodríguez E, Matanovic A, Marenholz I, Hübner N, Schaarschmidt H, Novak N, Michel S, Maintz L, Werfel T, Meyer-Hoffert U, Hotze M, Prokisch H, Heim K, Herder C, Hirota T, Tamari M, Kubo M, Takahashi A, Nakamura Y, Tsoi LC, Stuart P, Elder JT, Sun L, Zuo X, Yang S, Zhang X, Hoffmann P, Nöthen MM, Fölster-Holst R, Winkelmann J, Illig T, Boehm BO, Duerr RH, Büning C, Brand S, Glas J, McAleer MA, Fahy CM, Kabesch M, Brown S, McLean WH, Irvine AD, Schreiber S, Lee YA, Franke A, Weidinger S
High-density genotyping study identifies four new susceptibility loci for atopic dermatitis.
Nat Genet. 2013;45(7): 808-12

Neumann HP, Jilg C, Bacher J, Nabulsi Z, Malinoc A, Hummel B, Hoffmann MM, Ortiz-Bruechle N, Glasker S, Pisarski P, Neeff H, Krämer-Guth A, Cybulla M, Hornberger M, Wilpert J, Funk L, Baumert J, Paatz D, Baumann D, Lahl M, Felten H, Hausberg M, Zerres K, Eng C, Else-Kroener-Fresenius-ADPKD-Registry
Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany.
Nephrol Dial Transplant. 2013;28(6): 1472-87

Rudnik-Schoeneborn Sabine, Senderek Jan, Jen JoannaC, Houge Gunnar, Seeman Pavel, Puchmajerova Alena, Graul-Neumann Luitgard, Seidel Ulrich, Korinthenberg Rudolf, Kirschner Janbernd, Seeger Juergen, Ryan MoniqueM, Muntoni Francesco, Steinlin Maja, Sztriha Laszlo, Colomer Jaume, Huebner Christoph, Brockmann Knut, Van Maldergem Lionel, Schiff Manuel, Holzinger Andreas, Barth Peter, Reardon William, Yourshaw Michael, Nelson StanleyF, Eggermann Thomas, Zerres Klaus Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations
Neurology. 2013;80(5): 438-446

Nolte KW, Trepels-Kottek S, Honnef D, Weis J, Bien CG, van Baalen A, Ritter K, Czermin B, Rudnik-Schöneborn S, Wagner N, Häusler M
Early muscle and brain ultrastructural changes in polymerase gamma 1-related encephalomyopathy.
Neuropathology. 2013;33(1): 59-67

Schabram I, Eggermann T, Siegel SJ, Gründer G, Zerres K, Vernaleken I Neuropsychological correlates of transcription factor AP-2Beta, and its interaction with COMT and MAOA in healthy females.
Neuropsychobiology. 2013;68(2): 79-90

Zerres, K
Epigenetik – Vermittler zwischen Anlage und Umwelt.
PdN Biologie in der Schule 6/62:32-37 (2013)

Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Schüle R, Haack TB, Schöning M, Biskup S, Rudnik-Schöneborn S, Senderek J, Hoffmann KT, MacLeod P, Schwarz J, Bender B, Krüger S, Kreuz F, Bauer P, Schöls L
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
Orphanet J Rare Dis. 2013;8: 41

Beaudoin M, Goyette P, Boucher G, Lo KS, Rivas MA, Stevens C, Alikashani A, Ladouceur M, Ellinghaus D, Törkvist L, Goel G, Lagacé C, Annese V, Bitton A, Begun J, Brant SR, Bresso F, Cho JH, Duerr RH, Halfvarson J, McGovern DP, Radford-Smith G, Schreiber S, Schumm PL, Sharma Y, Silverberg MS, Weersma RK, Quebec IBD Genetics Consortium , NIDDK IBD Genetics Consortium , International IBD Genetics Consortium , D'Amato M, Vermeire S, Franke A, Lettre G, Xavier RJ, Daly MJ, Rioux JD, Aumais G, Bernard EJ, Bitton A, Cohen A, Deslandres C, Lahaie R, Paré P, Rioux JD, Brant SR, Cho JH, Duerr RH, McGovern DP, Rioux JD, Silverberg MS, Ahmad T, Anderson CA, Annese V, Baldassano RN, Balschun T, Barclay M, Barrett JC, Bayless TM, Bis JC, Brand S, Brant SR, Bumpstead S, Buning C, Cho JH, Cohen A, Colombel JF, Cottone M, D'Amato M, D'Inca R, Daly MJ, Denson T, Dubinsky M, Duerr RH, Edwards C, Ellinghaus D, Florin T, Franchimont D, Franke A, Gearry R, Georges M, Glas J, Van Gossum A, Griffiths AM, Guthery SL, Hakonarson H, Haritunians T, Hugot JP, de Jong DJ, Jostins L, Kugathasan S, Kullak-Ublick G, Latiano A, Laukens D, Lawrance I, Lee J, Lees CW, Lemann M, Levine A, Libioulle C, Louis E, Mansfield JC, Mathew CG, McGovern DP, Mitrovic M, Montgomery GW, Mowat C, Newman W, Palmieri O, Panés J, Parkes M, Phillips A, Ponsioen CY, Potocnik U, Prescott NJ, Proctor DD, Radford-Smith GL, Regueiro M, Rioux JD, Roberts R, Rotter JI, Rutgeerts P, Sanderson J, Sans M, Satsangi J, Schreiber S, Schumm P, Seibold F, Sharma Y, Silverberg MS, Simms LA, Steinhart A, Targan SR, Taylor KD, Torkvist L, Vermeire S, Halfvarson J, Verspaget HW, De Vos M, Walters T, Wang K, Weersma RK, Whiteman D, Wijmenga C
Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis.
PLoS Genet. 2013;9(9): e1003723

Diegelmann J, Czamara D, Le Bras E, Zimmermann E, Olszak T, Bedynek A, Göke B, Franke A, Glas J, Brand S
Intestinal DMBT1 Expression Is Modulated by Crohn's Disease-Associated IL23R Variants and by a DMBT1 Variant Which Influences Binding of the Transcription Factors CREB1 and ATF-2.
PLoS ONE. 2013;8(11): e77773

Glas J, Seiderer J, Bues S, Stallhofer J, Fries C, Olszak T, Tsekeri E, Wetzke M, Beigel F, Steib C, Friedrich M, Göke B, Diegelmann J, Czamara D, Brand S
IRGM variants and susceptibility to inflammatory bowel disease in the German population.
PLoS ONE. 2013;8(1): e54338

Weiskirchen R, Weimer J, Meurer SK, Kron A, Seipel B, Vater I, Arnold N, Siebert R, Xu L, Friedman SL, Bergmann C
Genetic Characteristics of the Human Hepatic Stellate Cell Line LX-2.
PLoS ONE. 2013;8(10): e75692

Eggermann T, Heil I
Hochdurchsatztechnologien in der Genomanalyse.
Praxis der Naturwissenschaften 6&62:16-23 (2013)

Rudnik-Schöneborn S, Zerres K
Spinal Muscular Atrophies
In: Rimoin DL, Pyeritz RE, Korf BR. Emery and Rimoin´s Principles and Practice of Medical Genetics. 6th Edition, Chapter 128.
Academic Press: 3673 - 3712 (2013)

Zerres K
Kolorektale Karzinome. Familiäres KRK, Amsterdam/ Bethesda-Kriterien.
In: Fuchs R, Guggenberger D, Neumann U, Trautwein C (Hg.): GI-Tumore 2013. 168 (2013)

Zerres K
Kolorektale Karzinome. Familiäres KRK, HNPCC.
In: Fuchs R, Guggenberger D, Neumann U, Trautwein C (Hg.): GI-Tumore 2013. 169 (2013)

Zerres K
Kolorektale Karzinome. Familiäre KRK, FAP und MAP.
In: Fuchs R, Guggenberger D, Neumann U, Trautwein C (Hrsg.): GI-Tumore 2013. 170 (2013)

 

Västinsalo, H., Jalkanen, R., Bergmann, C., Neuhaus, C., Kleemola, L., Jauhola, L., Bolz, H.J., Sankila, E.M.
Extended mutation spectrum of Usher syndrome in Finland.
Acta Ophthalmol (2012) [Epub ahead of print]

Begemann, M., Spengler, S., Kordaß, U., Schröder, C., Eggermann, T.
Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation.
Am J Med Genet 158A(2) (2012): 423-428

Eggermann, T., Begemann, M., Gogiel, M., Palomares, M., Vallespin, E., Fernandez, L., Cazorla, R., Spengler, S., Garcia-Minaur, S.
Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting GRB10.
Am J Med Genet 158A (2012): 2815-2819

Engels, H., Schüler, H.M., Zink, A.M., Wohlleber, E., Brockschmidt, A., Hoischen, A., Drechsler, M., Lee, J.A., Ludwig, K.U., Kubisch, C., Schwanitz, G., Weber, R.G., Leube, B., Hennekam, R.C., Rudnik-Schöneborn, S., Kreiß-Nachtsheim, M., Reutter, H.
A phenotype map for 14q32.3 terminal deletions.
Am J Med Genet 158A(4) (2012): 695-706

Eckmann-Scholz, C., Jonat, W., Zerres, K., Ortiz-Brüchle, N.
Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome.
Arch Gynecol Obstet 286(4) (2012):917-21

Neumann, H.P., Malinoc, A., Bacher, J., Nabulsi, Z., Ivanovas, V., Bruechle, N.O., Mader, I., Hoffmann, M.M., Riegler, P., Kraemer-Guth, A., Burchardi, C., Schaeffner, E., Martin, R.S., Azurmendi, P.J., Zerres, K., Jilg, C., Eng, C., Gläsker, S.
Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney disease.
Cerebrovasc Dis Extra 2(1) (2012): 71-79

Eggermann, T., Spengler, S., Begemann, M., Binder, G., Buiting, K., Albrecht, B., Spranger, S.
Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features.
Clin Genet 81(3) (2012): 298-300

Zerres, K., Eggermann, T., Rudnik-Schöneborn, S., Ortiz-Brüchle, N.
Zystische Nierenerkrankungen -- Genetik.
Dialyse aktuell 16(9) (2012): 500-511

Begemann, M., Leisten, I., Soellner, L., Zerres, K., Eggermann, T., Spengler, S.
Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci.
Epigenetics 7(5) (2012): 473-81.

Eggermann, T., Zerres, K., Nunes, V., Font-Llitjós, M., Bisceglia, L., Chatzikyriakidou, A., Dello Strologo, L., Pras, E., Creemers, J., Palacin, M.
Clinical utility gene card for: Cystinuria.
Eur J Hum Genet 20(2) (2012)

Gogiel, M., Begemann, M., Spengler, S., Soellner, L., Göretzlehner, U., Eggermann, T., Strobl-Wildemann, G.
Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour.
Eur J Hum Genet 2012 [Epub ahead of print]

Rudnik-Schöneborn, S., Eggermann, T., Kress, W., Lemmink, H.H., Cobben, J.M., Zerres, K.
Clinical utility gene card for: proximal spinal muscular atrophy.
Eur J Hum Genet 20(6) (2012)

Eggermann, T., Spengler, S., Venghaus, A., Denecke, B., Zerres, K., Baudis, M., Ensenauer, R.
2p21 Deletions in hypotonia-cystinuria syndrome.
Eur J Med Genet 55(10) (2012): 561 - 3

Reutter, H., Bagci, S., Müller, A., Gembruch, U., Geipel, A., Berg, C., Eggermann, T., Spengler, S., Bartmann, P., Rudnik-Schöneborn, S.
Primary pulmonary hypertension, congenital heart defect, central nervous system malformations, hypo- and aplastic toes: Another case of Yunis-Varón syndrome or report of a new entity.
Eur J Med Genet 55(1) (2012): 27-31

Awater, C., Zerres, K., Rudnik-Schöneborn, S.
Pregnancy course and outcome in women with hereditary neuromuscular disorders: comparison of obstetric risks in 178 patients.
Eur J Obstet Gynecol Reprod Biol (2012): 153-9

Eggermann, T., Spengler, S., Gogiel, M., Begemann, M., Elbracht, M.
Epigenetic and genetic diagnosis of Silver-Russell syndrome.
Expert Rev Mol Diagn 12(5) (2012): 459-71

Nizon, M., Huber, C., De Leonardis, F., Merrina, R., Forlino, A., Fradin, M., Tuysuz, B., Abu-Libdeh, B.Y., Alanay, Y., Albrecht, B., Al Gazali, L., Basaran, S.Y., Clayton-Smith, J., Désir, J., Gill, H., Greally, M.T., van Maarle, M.C., Mackay, S., Mortier, G., Morton, J., Sillence, D., Vilain, C., Young, I., Zerres, K., Le Merrer, M., Munnich, A., Le Goff, C., Rossi, A., Cormier-Daire, V.
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
Hum Mutat 33(8) (2012):1261-6

Neumann, H.P., Bacher, J., Nabulsi, Z., Ortiz Brüchle, N., Hoffmann, M.M., Schaeffner, E., Nürnberger, J., Cybulla, M., Wilpert, J., Riegler, P., Corradini, R., Kraemer-Guth, A., Azurmendi, P., Nunez, M., Gläsker, S., Zerres, K., Jilg, C.
Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes.
Int Urol Nephrol Int Urol Nephrol 44(6) (2012): 1753 -62

Zerres, K., Ortiz-Brüchle, N.
Cystic kidney diseases.
Internist (Berl) 53(4) (2012): 419-428

Begemann, M., Spengler, S., Gogiel, M., Grasshoff, U., Bonin, M., Betz, R.C., Dufke, A., Spier, I., Eggermann, T.
Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature.
J Med Genet 49(9) (2012):547-53

Spengler, S., Begemann, M., Ortiz-Brüchle, N., Baudis, M., Denecke, B., Kroisel, P.M., Oehl-Jaschkowitz, B., Schulze, B., raabe-Meyer, G., Spaich, C., Blümel. P., Jauch, A., Moog, U., Zerres, K., Eggermann, T.
Molecular Karyotyping as a Relevant Diagnostic Tool in Children with Growth Retardation with Silver-Russel Features.
J Pediatr J Pediatr 161(5) (2012): 933-942

Folwaczny, M., Tengler, B., Glas, J.
Variants of the human NR1I2 (PXR) locus in chronic periodontitis.
J Periodontal Res 47(2) (2012): 174-1799

Faas, D., Klauwer, D., Klaus, G., Zerres, K., Neuhäuser, C., Heckmann, M.
Long term peritoneal dialysis in an anuric preterm infant - a futile treatment?
Klin Pediatr 224(2) (2012): 76-79

von Gontard, A., Rudnik-Schöneborn, S., Zerres, K.
Stress and Coping in Parents of Children and Adolescents with Spinal Muscular Atrophy.
Klin Padiatr 224(4) (2012): 247-251

Zerres, K.
Umsetzung der Qualifikation zur fachgebundenen genetischen Beratung.
Med Genet 24(2) (2012): 140-141

Gründahl, J.E., Guan, Z., Rust, S., Reunert, J., Müller, B., Du Chesne, I., Zerres, K., Rudnik-Schöneborn, S., Ortiz-Brüchle, N., Häusler, M.G., Siedlecka, J., Swiezewska, E., Raetz, C.R., Marquardt, T.
Life with too much polyprenol: polyprenol reductase deficiency.
Mol Genet Metab 105(4) (2012): 642-651

Okada, Y., Sim, X., Go, M.J., Wu, J.Y., Gu, D., Takeuchi, F., Takahashi, A., Maeda, S., Tsunoda, T., Chen, P., Lim, S.C., Wong, T.Y., Liu, J., Young, T.L., Aung, T., Seielstad, M., Teo, Y.Y., Kim, Y.J., Lee, J.Y., Han, B.G., Kang, D., Chen, C.H., Tsai, F.J., Chang, L.C., Fann, S.J., Mei, H., Rao, D.C., Hixson, J.E., Chen, S., Katsuya, T., Isono, M., Ogihara, T., Chambers, J.C., Zhang, W., Kooner, J.S.; KidneyGen Consortium; CKDGen Consortium, Albrecht, E.; GUGC consortium, Yamamoto, K., Kubo, M., Nakamura, Y., Kamatani, N., Kato, N., He, J., Chen, Y.T., Cho, Y.S., Tai, E.S., Tanaka, T., Chambers, J.C., Zhang, W., Lord, G.M., van der Harst, P., Lawlor, D.A., [...], Dominiczak, A., Ebrahim, S., Eggermann, T., Farrall, M., Ferrucci, L., [...], Wallace, C., Waterworth, D., Zerres, K., Waeber, G., Wareham, N.J., [...], Caulfield, M., Bochud, M., Giger, C.
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
Nat Genet 44(8) (2012): 904 - 9

Wan, J., Yourshaw, M., Mamsa, H., Rudnik-Schöneborn, S., Menezes, M.P., Hong, J.E., Leong, D.W., Senderek, J., Salman, M.S., Chitayat, D., Seeman, P., von Moers, A., Graul-Neumann, L., Kornberg, A.J., Castro-Gago, M., Sobrido, M.J., Sanefuji, M., Shieh, P.B., Salamon, N., Kim, R.C., Vinters, H.V., Chen, Z., Zerres, K., Ryan, M.M., Nelson, S.F., Jen, J.C.
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.
Nat Genet (2012): 704-708

Nickl-Jockschat, T., Stöcker, T., Markov, V., Krug, A., Huang, R., Schneider, F., Habel, U., Zerres, K., Nöthen, M.M., Treutlein, J., Rietschel, M., Shah, N.J., Kircher, T.
The impact of a Dysbindin schizophrenia susceptibility variant on fiber tract integrity in healthy individuals: A TBSS-based diffusion tensor imaging study.
NeuroImage 60(2) (2012): 847-853

Norwood, F., Rudnik-Schöneborn, S.
179th ENMC international workshop: Pregnancy in women with neuromuscular disorders 5-7 November 2010, Naarden, The Netherlands.
Neuromuscul Disord 2012;22(2): 183-190

Rudnik-Schöneborn, S., Arning, L., Epplen, J.T., Zerres, K.
SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy.
Neuromuscul Disord 22(3) (2012): 258-62

Nolte, K.W., Trepels-Kottek, S., Honnef, D., Weis, J., Bien, C.G., van Baalen, A., Ritter, K., Czermin, B., Rudnik-Schöneborn, S., Wagner, N., Häusler, M.
Early muscle and brain ultrastructural changes in polymerase gamma 1-related encephalomyopathy.
Neuropathology (2012) [Epub ahead of print]

Eggermann, T., Venghaus, A., Zerres, K.
Cystinuria: an inborn cause of urolithiasis.
Orphanet J Rare Dis 7(1) (2012): 19

Glas, J., Seiderer, J., Wagner, J., Olszak, T., Fries, C., Tillack, C., Friedrich, M., Beigel, F., Stallhofer, J., Steib, C., Wetzke, M., Göke, B., Ochsenkühn, T., Diegelmann, J., Czamara, D., Brand, S.
Analysis of IL12B Gene Variants in Inflammatory Bowel Disease.
PLoS ONE 7(3) (2012): e34349

Glas, J., Wagner, J., Seiderer, J., Olszak, T., Wetzke, M., Beigel, F., Tillack, C., Stallhofer, J., Friedrich, M., Steib, C., Göke, B., Ochsenkühn, T., Karbalai, N., Diegelmann, J., Czamara, D., Brand, S.
PTPN2 gene variants are associated with susceptibility to both Crohn's disease and ulcerative colitis supporting a common genetic disease background.
PLoS One 7(3) (2012): e33682

Schellenberg, A., Lin, Q., Schüler, H., Koch, C.M., Joussen, S., Denecke, B., Walenda, G., Pallua, N., Suschek, C.V., Zenke, M., Wagner, W.
Replicative senescence of mesenchymal stem cells causes DNA-methylation changes which correlate with repressive histone marks.
Aging 3(9): 873-88

Becker, J., Semler, O., Gilissen, C., Li, Y., Bolz, H.J., Giunta, C., Bergmann, C., Rohrbach, M., Koerber, F., Zimmermann, K., de Vries, P., Wirth, B., Schoenau, E., Wollnik, B., Veltman, J.A., Hoischen, A., Netzer, C.
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
Am J Hum Genet 88(3): 362-71

Dowdle, W.E., Robinson, J.F., Kneist, A., Sirerol-Piquer, M.S., Frints, S.G., Corbit, K.C., Zaghloul, N.A., Zaghloul, N.A., van Lijnschoten, G., Mulders, L., Verver, D.E., Zerres K., Reed, R.R., Attié-Bitach, T., Johnson, C.A., García-Verdugo, J.M., Katsanis N, Bergmann, C., Reiter, J.F.
Disruption of a ciliary B9 protein complex causes Meckel syndrome.
Am J Hum Genet 89(1): 94-110

Senderek, J., Müller, J.S., Dusl, M., Strom, T.M., Guergueltcheva, V., Diepolder, I., Laval, S.H., Maxwell, S., Cossins, J., Krause, S., Muelas, N., Vilchez, J.J., Colomer, J., Mallebrera, C.J., Nascimento, A., Nafissi, S., Kariminejad, A., Nilipour, Y., Bozorgmehr, B., Najmabadi, H., Rodolico, C., Sieb, J.P., Steinlein, O.K., Schlotter, B., Schoser, B., Kirschner, J., Herrmann, R., Voit, T., Oldfors, A., Lindbergh, C., Urtizberea, A., von der Hagen, M., Hübner, A., Palace, J., Bushby, K., Straub, V., Beeson, D., Abicht, A., Lochmüller, H.
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Am J Hum Genet 88(2): 162-72

Binder, G., Begemann, M., Eggermann, T., Kannenberg, K.
Silver-Russell syndrome.
Best Pract Res Clin Endocrinol Metab 25(1): 153-60

Begemann, M., Spengler, S., Kanber, D., Haake, A., Baudis, M., Leisten, I., Binder, G., Markus, S., Rupprecht, T., Segerer, H., Fricke-Otto, S., Mühlenberg, R., Siebert, R., Buiting, K., Eggermann, T.
Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues.
Clin Genet 80(1) (2011): 83-8

Rudnik-Schoeneborn, S., Zerres, K.
Spinal muscular atrophies.
Dtsch Z Nervenheilkd 30(10) (2011): 787-796

Eggermann, T., Leisten, I., Binder, G., Begemann, M., Spengler, S.
Disturbed methylation at multiple imprinted loci: an increasing observation in imprinting disorders.
Epigenomics 3(5) (2011): 625-37

Eggermann, T., Buiting, K., Temple, I.K.
Clinical utility gene card for: Silver-Russell syndrome.
Eur J Hum Genet 19(3) (2011)

Schwanitz, G., Korsch, E., Kremens-Korsch, U., Ahlbory, K., Gamerdinger, U., Heidrich-Kaul, C., Schubert, R., Spengler, S., Eggermann, T.
Mosaic tetrasomy 14pterq13.1: longitudinal study.
Eur J Med Genet 54(4) (2011)

Rudnik-Schoneborn, S., Schaupp, M., Lindner, A., Kress, W., Schulze-Bahr, E., Zumhagen, S., Elbracht, M., Zerres, K.
Brugada-like cardiac disease in myotonic dystrophy type 2: report of two unrelated patients.
Eur J Neurol 18(1) (2011): 191-194

Bergmann, C., Wobser, M., Morbach, H., Falkenbach, A., Wittenhagen, D., Lassay, L., Ott, H., Zerres, K., Girschick, H.J., Hamm, H.
Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations.
Exp Dermatol 20(6) (2011): 531-3

Spengler, S., Begemann, M., Binder, G., Eggermann, T.
Testing of buccal swab DNA does not increase the detection rate for imprinting control region 1 hypomethylation in Silver-Russell syndrome.
Genet Test Mol Biomarkers 15(10) (2011): 725-6

Krug, A., Markov, V., Krach, S., Jansen, A., Zerres, K., Eggermann, T., Stöcker, T., Shah, N.J., Nöthen, M.M., Georgi, A., Strohmaier, J., Rietschel, M., Kircher, T.
Genetic variation in G72 correlates with brain activation in the right middle temporal gyrus in a verbal fluency task in healthy individuals.
Hum Brain Mapp 32(1) (2011): 118-26

Glas, J., Seiderer, J., Tillack, C., Paschos, E., Wetzke, M., Diegelmann, J., Czamara, D., Brand, S.
Functional SFTPD gene variants are not associated with susceptibility to inflammatory bowel disease in the German population.
Inflamm Bowel Dis 17(6) (2011): 1439-40

Glas, J., Seiderer, J., Fischer, D., Tengler, B., Pfennig, S., Wetzke, M., Beigel, F., Olszak, T., Weidinger, M., Göke, B., Ochsenkühn, T., Folwaczny, M., Müller-Myhsok, B., Diegelmann, J., Czamara, D., Brand, S.
Pregnane X receptor (PXR/NR1I2) gene haplotypes modulate susceptibility to inflammatory bowel disease.
Inflamm Bowel Dis 17(9) (2011): 1917-24

Glas J, Seiderer J, Markus C, Pfennig S, Wetzke M, Paschos E, Göke B, Ochsenkühn T, Müller-Myhsok B, Diegelmann J, Roeske D, Brand S.
Role of PPARG gene variants in inflammatory bowel disease.
Inflamm Bowel Dis 17(4) (2011): 1057-8

Folwaczny, M., Manolis, V., Markus, C., Glas, J.
Variants of the human PPARG locus and the susceptibility to chronic periodontitis.
Innate Immun 17(6) (2011): 541-7

Eggermann, T., Spengler, S., Wirth, J., Lahme, S.
Molecular Genetic Testing in Cystinuria.
International Journal of Human Genetics 11(1) (2011): 41-44

Eggermann, T., Gamerdinger, U., Schubert, R., Spengler, S., Scholz, M., Hansmann, D., Tariverdian, G., Baudis, M., Schwanitz, G.
Supernumerary Asymmetric Dic(15;15) With Secondary Mosaic Formation in One of Two Developmentally Retarded Twins.
International Journal of Human Genetics 11(2) (2011): 75-82

Bergmann, C., von Bothmer, J., Ortiz-Brüchle, N., Venghaus, A., Frank, V., Fehrenbach, H., Hampel, T., Pape, L., Buske, A., Jonsson, J., Sarioglu, N., Santos, A., Ferreira, J.C., Becker, J.U., Cremer, R., Hoefele, J., Benz, M.R., Weber, L.T., Buettner, R., Zerres, K.
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.
J Am Soc Nephrol 22(11) (2011): 2047-56

Otto, E.A., Ramaswami, G., Janssen, S., Chaki, M., Allen, S.J., Zhou, W., Airik, R., Hurd, T.W., Ghosh, A.K., Wolf, M.T., Hoppe, B., Neuhaus, T.J., Bockenhauer, D., Milford, D.V., Soliman, N.A., Antignac, C., Saunier, S., Johnson, C.A., Hildebrandt, F., GPN Study Group , Bergmann, C., Zerres, K., et al.
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
J Med Genet 48(2) (2011): 105-16

Leeners, B., Neumaier-Wagner, P.M., Kuse, S., Mütze, S., Rudnik-Schöneborn, S., Zerres, K., Rath, W.
Recurrence risks of hypertensive diseases in pregnancy after HELLP syndrome.
J Perinat Med 39(6) (2011): 673-8

Chaki, M., Hoefele, J., Allen, S.J., Ramaswami, G., Janssen, S., Bergmann, C., Heckenlively, J.R., Otto, E.A., Hildebrandt, F.
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
Kidney Int 80(11) (2011): 1239-45

Faas, D., Klauwer, D., Klaus, G., Zerres, K., Neuhäuser, C., Heckmann, M.
Long Term Peritoneal Dialysis in an Anuric Preterm Infant - a Futile Treatment?
Klin Padiatr 2011

Grimm, T., Fischer, C., Langer, S., Rudnik-Schoeneborn, S., Zerres, K.
Risk calculation in autosomal recessive inheritance.
Med Genet 23(3) (2011): 364-372

Mangold, S., Blau, N., Opladen, T., Steinfeld, R., Wessling, B., Zerres, K., Häusler, M.
Cerebral folate deficiency: a neurometabolic syndrome?
Mol Genet Metab 104(3) (2011): 369-72

Rudnik-Schöneborn, S., Zerres, K., Graul-Neumann, L., Wiegand, S., Mellerowicz, H., Hehr, U.
Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum.
Mol Syndromol 1(6) (2011): 301-306

Zirn, B., Korenke, C., Wagner, M., Rudnik-Schöneborn, S., Müller, U.
Concurrence of dystonia 1 and Charcot-Marie-Tooth Neuropathy, type 1 A, in a large family.
Mov Disord 26(2) (2011): 361-2

Anderson, C.A., Boucher, G., Lees, C.W., Franke, A., D'Amato, M., Taylor, K.D., Lee, J.C., Goyette, P., Imielinski, M., Latiano, A., Lagace, C., Scott, R., Amininejad, L., Bumpstead, S., Baidoo, L., Baldassano, R.N., Barclay, M., Bayless, T.M., Brand, S., Buning, C., Colombel, J.F., Denson, L.A., De Vos, M., Dubinsky, M., Edwards, C., Ellinghaus, D., Fehrmann, R.S.N., Floyd, J.A.B., Florin, T., Franchimont, D., Franke, L., Georges, M., Glas, J., Glazer, N.L., Guthery, S.L., et al.
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
Nat Genet 43(3) (2011): 246-52

Davis, E.E., Zhang, Q., Liu, Q., Diplas, B.H., Davey, L.M., Hartley, J., Stoetzel, C., Szymanska, K., Ramaswami, G., Logan, C.V., Muzny, D.M., Young, A.C., Wheeler, D.A., Cruz, P., Morgan, M., Lewis, L.R., Cherukuri, P., Maskeri, B., Hansen, N.F., Mullikin, J.C., Blakesley, R.W., Bouffard, G.G., NISC Comparative Sequencing Program, Gyapay, G., Rieger, S., Tönshoff, B., Kern, I., Soliman, N.A., Neuhaus, T.J., Swoboda, K.J., Kayserili, H., Gallagher, T.E., Lewis, R.A., Bergmann, C., Otto, E.A., Saunier, S., Scambler, P.J., Beales, P.L., Gleeson, J.G., Maher, E.R., Attié-Bitach, T., Dollfus, H., Johnson, C.A., Green, E.D., Gibbs, R.A., Hildebrandt, F., Pierce, E.A., Katsanis, N.
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Nat Genet 43(3) (2011): 189-96

Lamandé, S.R., Yuan, Y., Gresshoff, I.L., Rowley, L., Belluoccio, D., Kaluarachchi, K., Little, C.B., Botzenhart, E., Zerres, K., Amor, D.J., Cole, W.G., Savarirayan, R., McIntyre, P., Bateman, J.F.
Mutations in TRPV4 cause an inherited arthropathy of hands and feet.
Nat Genet 43(11) (2011): 1142-6

Rivas, M.A., Beaudoin, M., Gardet, A., Stevens, C., Sharma, Y., Zhang, C.K., Boucher, G., Ripke, S., Ellinghaus, D., Burtt, N., Fennell, T., Kirby, A., Latiano, A., Goyette, P., Green, T., Halfvarson, J., Haritunians, T., Korn, J.M., Kuruvilla, F., Lagacé, C., Neale, B., Lo, K.S., Schumm, P., Törkvist, L., National Institute of Diabetes and Digestive Kidney Diseases Inflammatory Bowel Disease Genetics Consortium, United Kingdom Inflammatory Bowel Disease Genetics Consortium , International Inflammatory Bowel Disease Genetics Consortium , Dubinsky, M.C., Brant, S.R., et al.
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.
Nat Genet 43(11) (2011): 1066-73

International Consortium for Blood Pressure Genome-Wide Association Studies , Ehret, G.B., Munroe, P.B., Rice, K.M., Bochud, M., Johnson, A.D., Chasman, D.I., Smith, A.V., Tobin, M.D., Verwoert, G.C., Hwang, S.J., Pihur, V., Vollenweider, P., O'Reilly, P.F., Amin, N., Bragg-Gresham, J.L., Teumer, A., et al, Dominiczak, A., Ebrahim, S., Eggermann, T., Farrall, M., Ferrucci, L., Floege, J., et al, Wallace, C., Waterworth, D., Zerres, K., Waeber, G., Wareham, N.J., Maxwell, P.H., McCarthy, M.I., Jarvelin, M.R., Mooser, V., Abecasis, G.R., Lightstone, L., Scott, J., Navis, G., Elliott, P., Kooner, J.S.,
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
Nature 478(7367) (2011): 103-9

Rossin, E.J., Lage, K., Raychaudhuri, S., Xavier, R.J., Tatar, D., Benita, Y., International Inflammatory Bowel Disease Genetics Constortium , Cotsapas, C., Daly, M.J., Franke, A., McGovern, D.P., Barrett, J.C., Wang, K., Radford-Smith, G.L., Ahmad, T., Lees, C.W., Balschun, T., Lee, J., Roberts, R., Anderson, C.A., Bis, J.C., Bumpstead, S., Ellinghaus, D., Festen, E.M., Georges, M., Haritunians, T., Jostins, L., Latiano, A., Mathew, C.G., Montgomery, G.W., Prescott, N.J., Rotter, J.I., Schumm, P., Sharma, Y., Simms, L.A., Taylor, K.D., Whiteman, D., Wijmenga, C., Baldassano, R.N., Barclay, M., Bayless, T.M., Brand, S., Buning, C., Cohen, A., Colombel, J.F., Cottone, M., Stronati, L., Denson, T., De Vos, M., D'Inca, R., Dubinsky, M., Edwards, C., Florin, T., Franchimont, D., Gearry, R., Glas, J., Van Gossum, A., Guthery, et al.
Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology.
PLoS Genet 7(1) (2011): e1001273

Glas, J., Seiderer, J., Fries, C., Tillack, C., Pfennig, S., Weidinger, M., Beigel, F., Olszak, T., Lass, U., Göke, B., Ochsenkühn, T., Wolf, C., Lohse, P., Müller-Myhsok, B., Diegelmann, J., Czamara, D., Brand, S.
CEACAM6 Gene Variants in Inflammatory Bowel Disease.
PLoS ONE 6(4) (2011): e19319

Glas, J., Seiderer, J., Bayrle, C., Wetzke, M., Fries, C., Tillack, C., Olszak, T., Beigel, F., Steib, C., Friedrich, M., Diegelmann, J., Czamara, D., Brand, S.
The Role of Osteopontin (OPN/SPP1) Haplotypes in the Susceptibility to Crohn's Disease.
PLoS ONE 6(12) (2011): e29309

Frank, V., Bachmann, N., Eisenberger, T., Zerres, K., Bolz, H., Bergmann, C.
Mutations in multiple cilia-related disease genes in patients with early and severe polycystic kidney disease.
Pediatr Nephrol 26(9) (2011): 1574-1574

Thimm, M., Kircher, T., Kellermann, T., Markov, V., Krach, S., Jansen, A., Zerres, K., Eggermann, T., Stöcker, T., Shah, N.J., Nöthen, M.M., Rietschel, M., Witt, S.H., Mathiak, K., Krug, A.
Effects of a CACNA1C genotype on attention networks in healthy individuals.
Psychol Med 41(7) (2011): 1551-61

Glas, J., Brand, S.
Consolidation of Evidence for Association of the KIAA1109-TENR-IL2-IL21 rs6822844 Variant With Crohn's Disease Response
Am J Gastroenterol 105(5) (2010): 1206-7

Jürgens, M., Laubender, R.P., Hartl, F., Weidinger, M., Seiderer, J., Wagner, J., Wetzke, M., Beigel, F., Pfennig, S., Stallhofer, J., Schnitzler, F., Tillack, C., Lohse, P., Göke, B., Glas, J., Ochsenkühn, T., Brand, S.
Disease activity, ANCA, and IL23R genotype status determine early response to infliximab in patients with ulcerative colitis.
Am J Gastroenterol 105(8) (2010): 1811-9

Eggermann, T., Spengler, S., Bachmann, N., Baudis, M., Mau-Holzmann, U.A., Singer, S., Rossier, E.
Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15).
Am J Med Genet A 152A(2) (2010): 1484-7

Eggermann, T., Schönherr, N., Spengler, S., Jäger, S., Denecke, B., Binder, G., Baudis, M.
Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region.
Am J Med Genet A 152A(2) (2010): 356-9

Hengst, M., Tücke, J., Zerres, K., Blaum, M., Häusler, M.
Megalencephaly, mega corpus callosum, and complete lack of motor development: delineation of a rare syndrome.
Am J Med Genet A 152A(9) (2010): 2360-4

Rudnik Schöneborn, S., Takahashi, T., Busse, S., Schmidt, T., Senderek, J., Eggermann, T., Zerres, K.
Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation.
Am J Med Genet A 152A(6) (2010): 1540-4

Eggermann, T.
Russell-Silver syndrome.
Am J Med Genet C Semin Med Genet 154C(3) (2010): 355-64

Brauers, E., Dreier, A., Roos, A., Wormland, B., Weis, J., Krüttgen, A.
Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling.
Am J Pathol 177(1) (2010): 261-70

Thimm, M., Krug, A., Kellermann, T., Markov, V., Krach, S., Jansen, A., Zerres, K., Eggermann, T., Stöcker, T., Shah, N.J., Nöthen, M.M., Rietschel, M., Kircher, T.
The effects of a DTNBP1 gene variant on attention networks: an fMRI study.
Behav Brain Funct 6 (2010): 54

Stendel, C., Roos, A., Kleine, H., Arnaud, E., Ozçelik, M., Sidiropoulos, P.N., Zenker, J., Schüpfer, F., Lehmann, U., Sobota, R.M., Litchfield, D.W., Lüscher, B., Chrast, R., Suter, U., Senderek, J.
SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling.
Brain 133(Pt 8) (2010): 2462-74

Bachmann, N., Spengler, S., Binder, G., Eggermann, T.
MBD3 mutations are not responsible for ICR1 hypomethylation in Silver-Russell syndrome.
Eur J Med Genet 53(1) (2010): 23-4

Markov, V., Krug, A., Krach, S., Jansen, A., Eggermann, T., Zerres, K., Stöcker, T., Shah, N.J., Nöthen, M.M., Treutlein, J., Rietschel, M., Kircher, T.
Impact of schizophrenia-risk gene dysbindin 1 on brain activation in bilateral middle frontal gyrus during a working memory task in healthy individuals.
Hum Brain Mapp 31(2) (2010): 266-75

Thimm, M., Krug, A., Markov, V., Krach, S., Jansen, A., Zerres, K., Eggermann, T., Stöcker, T., Shah, N.J., Nöthen, M.M., Rietschel, M., Kircher, T.
The impact of dystrobrevin-binding protein 1 (DTNBP1) on neural correlates of episodic memory encoding and retrieval.
Hum Brain Mapp 31(2) (2010): 203-9

Schroepf, S., Kappler, R., Brand, S., Prell, C., Lohse, P., Glas, J., Hoster, E., Helmbrecht, J., Ballauff, A., Berger, M., von Schweinitz, D., Koletzko, S., Lacher, M.
Strong overexpression of CXCR3 axis components in childhood inflammatory bowel disease.
Inflamm Bowel Dis 16(11) (2010): 1882-90

Liu, M., Shi, S., Senthilnathan, S., Yu, J., Wu, E., Bergmann, C., Zerres, K., Bogdanova, N., Coto, E., Deltas, C., Pierides, A., Demetriou, K., Devuyst, O., Gitomer, B., Laakso, M., Lumiaho, A., Lamnissou, K., Magistroni, R., Parfrey, P., Breuning, M., Peters, D.J., Torra, R., Winearls, C.G., Torres, V.E., Harris, P.C., Paterson, A.D., Pei, Y.
Genetic variation of DKK3 may modify renal disease severity in ADPKD.
J Am Soc Nephrol 21(9) (2010): 1510-20

Jürgens, M., Brand, S., Laubender, R.P., Seiderer, J., Glas, J., Wetzke, M., Wagner, J., Pfennig, S., Tillack, C., Beigel, F., Weidinger, M., Schnitzler, F., Kreis, M.E., Göke, B., Lohse, P., Herrmann, K., Ochsenkühn, T.
The presence of fistulas and NOD2 homozygosity strongly predict intestinal stenosis in Crohn's disease independent of the IL23R genotype.
J Gastroenterol 45(7) (2010): 721-31

Muetze, S., Kapagerof, A., Vlachopoulos, L., Eggermann, T., Kaufmann, P., Zerres, K., Rath, W., Rudnik-Schoeneborn, S.
Mutation analysis of the growth factor genes PlGF, Flt1, IGF-I, and IGF-IR in intrauterine growth restriction with abnormal placental blood flow.
J Matern Fetal Neonatal Med 23(2) (2010): 142-7

Spengler, S., Schönherr, N., Binder, G., Wollmann, H.A., Fricke-Otto, S., Mühlenberg, R., Denecke, B., Baudis, M., Eggermann, T.
Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome.
J Med Genet 47(5) (2010): 356-60

Reilich, P., Schramm, N., Schoser, B., Schneiderat, P., Strigl-Pill, N., Müller-Höcker, J., Kress, W., Ferbert, A., Rudnik-Schöneborn, S., Noth, J., Lochmüller, H., Weis, J., Walter, M.C.
Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy.
J Neurol 257(7) (2010): 1108-18

Becker, J.U., Saez, A.O., Zerres, K., Witzke, O., Hoyer, P.F., Schmid, K.W., Kribben, A., Bergmann, C., Nürnberger, J.
The mTOR pathway is activated in human autosomal-recessive polycystic kidney disease.
Kidney Blood Press Res 33(2) (2010): 129-38

Bruchle, N.O., Venghaus, A., von Bothmer, J., Rudnik-Schoneborn, S., Eggermann, T., Bergmann, C., Zerres, K.
Cystic kidney diseases - an overview.
Med Genet 22(3) (2010): 322-331

Eggermann, T., Kotzot, D.
Uniparental disomy.
Med Genet 22(4) (2010): 439-449

Spengler, S., Begemann, M., Binder, G., Eggermann, T.
Genetics and epigenetics of the Silver-Russell syndrome.
Med Genet 22(4) (2010): 405-410

Zerres, K.
Institute for human genetics, university clinic of RWTH Aachen.
Med Genet 22(4) (2010): 452-461

Zerres, K.
Ciliopathies in focus.
Med Genet 22(3) (2010): 313-314

Rudnik-Schöneborn, S., Vogelgesang, S., Armbrust, S., Graul-Neumann, L., Fusch, C., Zerres, K.
Digital necroses and vascular thrombosis in severe spinal muscular atrophy.
Muscle Nerve 42(1) (2010): 144-7

Moffatt, M.F., Gut, I.G., Demenais, F., Strachan, D.P., Bouzigon, E., Heath, S., von Mutius, E., Farrall, M., Lathrop, M., Cookson, W.O., GABRIEL Consortium.
A large-scale, consortium-based genomewide association study of asthma.
N Engl J Med 363(13) (2010): 1211-21

Auer-Grumbach, M., Olschewski, A., Papic, L., Kremer, H., McEntagart, M.E., Uhrig, S., Fischer, C., Fröhlich, E., Bálint, Z., Tang, B., Strohmaier, H., Lochmüller, H., Schlotter-Weigel, B., Senderek, J., Krebs, A., Dick, K.J., Petty, R., Longman, C., Anderson, N.E., Padberg, G.W., Schelhaas, H.J., van Ravenswaaij-Arts, C.M., Pieber, T.R., Crosby, A.H., Guelly, C.
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
Nat Genet 42(2) (2010): 160-4

Chambers, J.C., Zhang, W., Lord, G.M., van der Harst, P., Lawlor, D.A., Sehmi, J.S., Gale, D.P., Wass, M.N., Ahmadi, K.R., Bakker, S.J., Beckmann, J., Bilo, H.J., Bochud, M., Brown, M.J., Caulfield, M.J., Connell, J.M., Cook, H.T., Cotlarciuc, I., Davey Smith, G., de Silva, R., Deng, G., Devuyst, O., Dikkeschei, L.D., Dimkovic, N., Dockrell, M., Dominiczak, A., Ebrahim, S., Eggermann, T., Farrall, M., Ferrucci, L., Floege, J., Forouhi, N.G., Gansevoort, R.T., Han, X., Hedblad, B., Homan van der Heide, J.J., Hepkema, B.G., Hernandez-Fuentes, M., Hypponen, E., Johnson, T., de Jong, P.E., Kleefstra, N., Lagou, V., Lapsley, M., Li, Y., Loos, R.J., Luan, J., Luttropp, K., Maréchal, C., Melander, O., Munroe, P.B., Nordfors, L., Parsa, A., Peltonen, L., Penninx, B.W., Perucha, E., Pouta, A., Prokopenko, I., Roderick, P.J., Ruokonen, A., Samani, N.J., Sanna, S., Schalling, M., Schlessinger, D., Schlieper, G., Seelen, M.A., Shuldiner, A.R., Sjögren, M., Smit, J.H., Snieder, H., Soranzo, N., Spector, T.D., Stenvinkel, P., Sternberg, M.J., Swaminathan, R., Tanaka, T., Ubink-Veltmaat, L.J., Uda, M., Vollenweider, P., Wallace, C., Waterworth, D., Zerres, K., Waeber, G., Wareham, N.J., Maxwell, P.H., McCarthy, M.I., Jarvelin, M.R., Mooser, V., Abecasis, G.R., Lightstone, L., Scott, J., Navis, G., Elliott, P., Kooner, J.S.
Genetic loci influencing kidney function and chronic kidney disease.
Nat Genet 42(5) (2010): 373-5

Franke, A., McGovern, D.P., Barrett, J.C., Wang, K., Radford-Smith, G.L., Ahmad, T., Lees, C.W., Balschun, T., Lee, J., Roberts, R., Anderson, C.A., Bis, J.C., Bumpstead, S., Ellinghaus, D., Festen, E.M., Georges, M., Green, T., Haritunians, T., Jostins, L., Latiano, A., Mathew, C.G., Montgomery, G.W., Prescott, N.J., Raychaudhuri, S., Rotter, J.I., Schumm, P., Sharma, Y., Simms, L.A., Taylor, K.D., Whiteman, D., Wijmenga, C., Baldassano, R.N., Barclay, M., Bayless, T.M., Brand, S., Büning, C., Cohen, A., Colombel, J.F., Cottone, M., Stronati, L., Denson, T., De Vos, M., D'Inca, R., Dubinsky, M., Edwards, C., Florin, T., Franchimont, D., Gearry, R., Glas, J., Van Gossum, A., Guthery, S.L., Halfvarson, J., Verspaget, H.W., Hugot, J.P., Karban, A., Laukens, D., Lawrance, I., Lemann, M., Levine, A., Libioulle, C., Louis, E., Mowat, C., Newman, W., Panés, J., Phillips, A., Proctor, D.D., Regueiro, M., Russell, R., Rutgeerts, P., Sanderson, J., Sans, M., Seibold, F., Steinhart, A.H., Stokkers, P.C., Torkvist, L., Kullak-Ublick, G., Wilson, D., Walters, T., Targan, S.R., Brant, S.R., Rioux, J.D., D'Amato, M., Weersma, R.K., Kugathasan, S., Griffiths, A.M., Mansfield, J.C., Vermeire, S., Duerr, R.H., Silverberg, M.S., Satsangi, J., Schreiber, S., Cho, J.H., Annese, V., Hakonarson, H., Daly, M.J., Parkes, M.
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
Nat Genet 42(12) (2010): 1118-25

Otto, E.A., Hurd, T.W., Airik, R., Chaki, M., Zhou, W., Stoetzel, C., Patil, S.B., Levy, S., Ghosh, A.K., Murga-Zamalloa, C.A., van Reeuwijk, J., Letteboer, S.J., Sang, L., Giles, R.H., Liu, Q., Coene, K.L., Estrada-Cuzcano, A., Collin, R.W., McLaughlin, H.M., Held, S., Kasanuki, J.M., Ramaswami, G., Conte, J., Lopez, I., Washburn, J., Macdonald, J., Hu, J., Yamashita, Y., Maher, E.R., Guay-Woodford, L.M., Neumann, H.P., Obermüller, N., Koenekoop, R.K., Bergmann, C., Bei, X., Lewis, R.A., Katsanis, N., Lopes, V., Williams, D.S., Lyons, R.H., Dang, C.V., Brito, D.A., Dias, M.B., Zhang, X., Cavalcoli, J.D., Nürnberg, G., Nürnberg, P., Pierce, E.A., Jackson, P.K., Antignac, C., Saunier, S., Roepman, R., Dollfus, H., Khanna, H., Hildebrandt, F.
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
Nat Genet 42(10) (2010): 840-50

Jansen, A., Krach, S., Krug, A., Markov, V., Thimm, M., Paulus, F., Zerres, K., Stöcker, T., Shah, N.J., Nöthen, M.M., Treutlein, J., Rietschel, M., Kircher, T.
The effect of G72 genotype on neural correlates of memory encoding and retrieval.
NeuroImage 53(3) (2010): 1001-6

Krach, S., Jansen, A., Krug, A., Markov, V., Thimm, M., Sheldrick, A.J., Eggermann, T., Zerres, K., Stöcker, T., Shah, N.J., Kircher, T.
COMT genotype and its role on hippocampal-prefrontal regions in declarative memory.
NeuroImage 53(3) (2010): 978-84

Krug, A., Markov, V., Krach, S., Jansen, A., Zerres, K., Eggermann, T., Stöcker, T., Shah, N.J., Nöthen, M.M., Treutlein, J., Rietschel, M., Kircher, T.
The effect of Neuregulin 1 on neural correlates of episodic memory encoding and retrieval.
NeuroImage 53(3) (2010): 985-91

Krug, A., Nieratschker, V., Markov, V., Krach, S., Jansen, A., Zerres, K., Eggermann, T., Stöcker, T., Shah, N.J., Treutlein, J., Mühleisen, T.W., Kircher, T.
Effect of CACNA1C rs1006737 on neural correlates of verbal fluency in healthy individuals.
NeuroImage 49(2) (2010): 1831-6

Kukolja, J., Thiel, C.M., Eggermann, T., Zerres, K., Fink, G.R.
Medial temporal lobe dysfunction during encoding and retrieval of episodic memory in non-demented APOE epsilon4 carriers.
Neuroscience 168(2) (2010): 487-97 

Eggermann, T., Begemann, M., Binder, G., Spengler, S.
Silver-Russell syndrome: genetic basis and molecular genetic testing.
Orphanet J Rare Dis 5 (2010): 19

Glas, J., Seiderer, J., Tillack, C., Pfennig, S., Beigel, F., Jürgens, M., Olszak, T., Laubender, R.P., Weidinger, M., Müller-Myhsok, B., Göke, B., Ochsenkühn, T., Lohse, P., Diegelmann, J., Czamara, D., Brand, S.
The NOD2 Single Nucleotide Polymorphisms rs2066843 and rs2076756 Are Novel and Common Crohn's Disease Susceptibility Gene Variants.
PLoS ONE 5(12) (2010): e14466

Glas, J., Seiderer, J., Nagy, M., Fries, C., Beigel, F., Weidinger, M., Pfennig, S., Klein, W., Epplen, J.T., Lohse, P., Folwaczny, M., Göke, B., Ochsenkühn, T., Diegelmann, J., Müller-Myhsok, B., Roeske, D., Brand, S.
Evidence for STAT4 as a common autoimmune gene: rs7574865 is associated with colonic Crohn's disease and early disease onset.
PLoS ONE 5(4) (2010): e10373

Eggermann, T., Begemann, M., Spengler, S., Schröder, C., Kordass, U., Binder, G.
Genetic and epigenetic findings in Silver-Russell syndrome.
Pediatr Endocrinol Rev 8(2) (2010): 86-93

Senderek, J., Garvey, S.M., Krieger, M., Guergueltcheva, V., Urtizberea, A., Roos, A., Elbracht, M., Stendel, C., Tournev, I., Mihailova, V., Feit, H., Tramonte, J., Hedera, P., Crooks, K., Bergmann, C., Rudnik-Schöneborn, S., Zerres, K., Lochmüller, H., Seboun, E., Weis, J., Beckmann, J.S., Hauser, M.A., Jackson, C.E.
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.
Am J Hum Genet 84(4) (2009): 511-8

Elbracht, M., Roos, A., Schönherr, N., Busse, S., Damen, R., Zerres, K., Rudnik-Schöneborn, S., Schüler, H.M.
Pure distal trisomy 2q: a rare chromosomal abnormality with recognizable phenotype.
Am J Med Genet A 149A(1) (2009): 2547-2550

Jansen, A., Krach, S., Krug, A., Markov, V., Eggermann, T., Zerres, K., Thimm, M., Nöthen, M.M., Treutlein, J., Rietschel, M., Kircher, T.
Effect of the G72 (DAOA) putative risk haplotype on cognitive functions in healthy subjects.
BMC Psychiatry 9 (2009): 60

Moises, T., Wüller, S., Saxena, S., Senderek, J., Weis, J., Krüttgen, A.
Proteasomal inhibition alters the trafficking of the neurotrophin receptor TrkA.
Biochem Biophys Res Commun 387(2) (2009): 360-4

Neumann, H.P., Erlic, Z., Boedeker, C.C., Rybicki, L.A., Robledo, M., Hermsen, M., Schiavi, F., Falcioni, M., Kwok, P., Bauters, C., Lampe, K., Fischer, M., Edelman, E., Benn, D.E., Robinson, B.G., Wiegand, S., Rasp, G., Stuck, B.A., Hoffmann, M.M., Sullivan, M., Sevilla, M.A., Weiss, M.M., Peczkowska, M., Kubaszek, A., Pigny, P., Ward, R.L., Learoyd, D., Croxson, M., Zabolotny, D., Yaremchuk, S., Draf, W., Muresan, M., Lorenz, R.R., Knipping, S., Strohm, M., Dyckhoff, G., Matthias, C., Reisch, N., Preuss, S.F., Esser, D., Walter, M.A., Kaftan, H., Stöver, T., Fottner, C., Gorgulla, H., Malekpour, M., Zarandy, M.M., Schipper, J., Brase, C., Glien, A., Kühnemund, M., Koscielny, S., Schwerdtfeger, P., Välimäki, M., Szyfter, W., Finckh, U., Zerres, K., Cascon, A., Opocher, G., Ridder, G.J., Januszewicz, A., Suarez, C., Eng, C.
Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.
Cancer Res 69(8) (2009): 3650-6

Eggermann, K., Spengler, S., Binder, G., Eggermann, T., Schonherr, N.
Segmental UPD(7q)mat is more frequent in Silver Russell syndrome than expected
Chromosome Res 17 (2009): 107-107

Eggermann, T., Schonherr, N., Denecke, B., Singer, S., Rossier, E., Binder, G., Baudis, M.
Idiopathic Silver-Russell syndrome patients should be tested for (sub)microscopic chromosomal aberrations
Chromosome Res 17 (2009): 90-90

Roos, A., Tonnies, H., Goecke, T., Haaf, T., Baudis, M., Spengler, S., Eggermann, T., Schuler, H.M.
First case of a constitutional intrachromosomal triplication 1q43 -> q44: molecular- and cytogenetic investigations and characterization of the phenotype
Chromosome Res 17 (2009): 48-49

Rudnik-Schöneborn, S., Berg, C., Zerres, K., Betzler, C., Grimm, T., Eggermann, T., Eggermann, K., Wirth, R., Wirth, B., Heller, R.
Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling.
Clin Genet 76(2) (2009): 168-78

Eggermann, T.
Epigenetic regulation of growth: lessons from Silver-Russell syndrome.
Endocr Dev 14 (2009): 10-9

Krug, A., Markov, V., Sheldrick, A., Krach, S., Jansen, A., Zerres, K., Eggermann, T., Stöcker, T., Shah, N.J., Kircher, T.
The effect of the COMT val(158)met polymorphism on neural correlates of semantic verbal fluency.
Eur Arch Psychiatry Clin Neurosci 259(8) (2009): 459-65

Spengler, S., Gogiel, M., Schönherr, N., Binder, G., Eggermann, T.
Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations.
Eur J Med Genet 52(6) (2009): 415-6

Mutze, S., Zerres, K., Rath, W.
Genetic Factors in HELLP Syndrome - A Critical Overview
Geburtshilfe Frauenheilkd 69(10) (2009): 915-921 

Eggermann, T.
Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures
Horm Res 71 Suppl 2 (2009): 30-5

Kircher, T., Krug, A., Markov, V., Whitney, C., Krach, S., Zerres, K., Eggermann, T., Stöcker, T., Shah, N.J., Treutlein, J., Nöthen, M.M., Becker, T., Rietschel, M.
Genetic variation in the schizophrenia-risk gene neuregulin 1 correlates with brain activation and impaired speech production in a verbal fluency task in healthy individuals.
Hum Brain Mapp 30(10) (2009): 3406-16

Eggermann, T.
Novel human pathological mutations. Gene symbol: SLC7A9. Disease: Cystinuria.
Hum Genet 126(2) (2009): 330

Eggermann, T.
Novel human pathological mutations. Gene symbol: SLC3A1. Disease: Cystinuria.
Hum Genet 126(2) (2009): 329 

Geipel, A., Eggermann, T., Knopfle, G., Schwanitz, G., Patzold, U., Hansmann, D.
Non-Mosaic Trisomy 7 in Chorionic Villi and Trisomy 18 in the Fetus: An Extreme form of Mosaic Variegated Aneuploidy?
Int J Immunogenet 9(1) (2009): 1-4

Gogiel, M., Spengler, S., Leisten, I., Schonherr, N., Schwanitz, G., Midro, A.T., Binder, G., Eggermann, T.
Molecular Analyses of the BORIS Gene in Children with Silver-Russell Syndrome.
Int J Hum Genet 9(3-4) (2009): 269-272

Schmitz, F., Ewering, S., Zerres, K., Klomfass, S., Hoffmann, R., Ortlepp, J.R.
Parathyroid hormone gene variant and calcific aortic stenosis.
J Heart Valve Dis 18(3) (2009): 262-7

Gülden, N., Eggermann, T., Zerres, K., Beer, M., Meinelt, A., Diedrich, P.
Interleukin-1 Polymorphisms in Relation to External Apical Root Resorption (EARR).
J Orofac Orthop 70(1) (2009): 20-38

Jäger, S., Schönherr, N., Spengler, S., Ranke, M.B., Wollmann, H.A., Binder, G., Eggermann, T..
LOT1 (ZAC1/PLAGL1) as member of an imprinted gene network does not harbor Silver-Russell specific variants.
J Pediatr Endocrinol Metab 22(6) (2009): 555-9

Muetze, S., Eggermann, T., Leeners, B., Birke, C., Kuse, S., Ortlepp, J.R., Rudnik-Schoeneborn, S., Zerres, K., Rath, W.
The 4G/5G polymorphism in the plasminogen activator inhibitor-1 gene is not associated with HELLP syndrome.
J Thromb Thrombolysis 27(2) (2009): 141-5

Grimm, T., Kress, W., Rudnik-Schoneborn, S., Zerres, K.
Neuromuscular diseases.
Med Genet 21(3) (2009): 313-314

Rudnik-Schoneborn, S., Zerres, K.
Spinal muscular atrophies of childhood and adolescence.
Med Genet 21(3) (2009): 349-357

Khanna, H., Davis, E.E., Murga-Zamalloa, C.A., Estrada-Cuzcano, A., Lopez, I., den Hollander, A.I., Zonneveld, M.N., Othman, M.I., Waseem, N., Chakarova, C.F., Maubaret, C., Diaz-Font, A., Macdonald, I., Muzny, D.M., Wheeler, D.A., Morgan, M., Lewis, L.R., Logan, C.V., Tan, P.L., Beer, M.A., Inglehearn, C.F., Lewis, R.A., Jacobson, S.G., Bergmann, C., Beales, P.L., Attié-Bitach, T., Johnson, C.A., Otto, E.A., Bhattacharya, S.S., Hildebrandt, F., Gibbs, R.A., Koenekoop, R.K., Swaroop, A., Katsanis, N.
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Nat Genet 41(6) (2009): 739-45

Kurth, I., Pamminger, T., Hennings, J.C., Soehendra, D., Huebner, A.K., Rotthier, A., Baets, J., Senderek, J., Topaloglu, H., Farrell, S.A., Nürnberg, G., Nürnberg, P., De Jonghe, P., Gal, A., Kaether, C., Timmerman, V., Hübner, C.A..
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
Nat Genet 41(11) (2009): 1179-8

Fischer, D.C., Jacoby, U., Pape, L., Ward, C.J., Kuwertz-Broeking, E., Renken, C., Nizze, H., Querfeld, U., Rudolph, B., Mueller-Wiefel, D.E., Bergmann, C., Haffner, D.
Activation of the AKT/mTOR pathway in autosomal recessive polycystic kidney disease (ARPKD).
Nephrol Dial Transplant 24(6) (2009): 1819-27

Malycha, F., Eggermann, T., Hristov, M., Schena, F.P., Mertens, P.R., Zerres, K., Floege, J., Eitner, F.
No evidence for a role of cosmc-chaperone mutations in European IgA nephropathy patients.
Nephrol Dial Transplant 24(1) (2009): 321-4

Jansen, A., Krach, S., Krug, A., Markov, V., Eggermann, T., Zerres, K., Stöcker, T., Shah, N.J., Nöthen, M.M., Treutlein, J., Rietschel, M., Kircher, T.
A putative high risk diplotype of the G72 gene is in healthy individuals associated with better performance in working memory functions and altered brain activity in the medial temporal lobe.
NeuroImage 45(3) (2009): 1002-8

Markov, V., Krug, A., Krach, S., Whitney, C., Eggermann, T., Zerres, K., Stöcker, T., Shah, N.J., Nöthen, M.M., Treutlein, J., Rietschel, M., Kircher, T.
Genetic variation in schizophrenia-risk-gene dysbindin 1 modulates brain activation in anterior cingulate cortex and right temporal gyrus during language production in healthy individuals.
NeuroImage 47(4) (2009): 2016-22

Rudnik-Schöneborn, S., Hehr, U., von Kalle, T., Bornemann, A., Winkler, J., Zerres, K.
Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene.
Neuropediatrics. 40(3) (2009): 129-33

Alberer, M., Hoefele, J., Bergmann, C., Hartrampf, S., Hilberath, J., Pawlita, I., Albert, M., Benz, M.R., Weber, L.T., Schmid, I.
Significantly reduced methotrexate clearance and renal impairment lead to discovery of a new mutation for ADPKD in a boy with osteosarcoma.
Pediatr Nephrol 24(4) (2009): 904-904

Eggermann, T., Gonzalez, D., Spengler, S., Arslan-Kirchner, M., Binder, G., Schönherr, N.
Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation.
Pediatrics 123(5) (2009): e929-3

Arnaud, E., Zenker, J., de Preux Charles, A.S., Stendel, C., Roos, A., Médard, J.J., Tricaud, N., Weis, J., Suter, U., Senderek, J., Chrast, R.
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.
Proc Natl Acad Sci U S A 106(41) (2009): 17528-33

Kircher, T., Markov, V., Krug, A., Eggermann, T., Zerres, K., Nöthen, M.M., Skowronek, M.H., Rietschel, M.
Association of the DTNBP1 genotype with cognition and personality traits in healthy subjects.
Psychol Med 39(10) (2009): 1657-65

Kircher, T., Krug, A., Markov, V., Whitney, C., Krach, S., Zerres, K., Eggermann, T., Stöcker, T., Shah, N.J., Nöthen, M.M., Rietschel, M.
Genetic Variation in the Schizophrenia-Risk Gene Neuregulin1 Correlates with Brain Activation and impaired Speech Production in a Verbal Fluency Task in Healthy individuals.
Schizophr Bull 35 (2009): 170-170

Krug, A., Markov, V., Eggerman, T., Krach, S., Zerres, K., Stöcker, T., Shah, N.J., Schneider, F., Nöthen, M.M., Treutlein, J., Rietschel, M., Kircher, T.
Genetic Variation in the Schizophrenia-Risk Gene Neuregulin1 Correlates with Differences in Frontal Brain Activation in a Working Memory Task in Healthy Individuals.
Schizophr Bull 25 (2009): 170-171

Bergmann, C., Ortiz-Brüchle, N., Frank, V., Rehder, H., Zerres, K.
Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation.
N Engl J Med (359) (2008): 318-319

Bergmann, C., Fliegauf, M, Ortiz-Brüchle, N., Frank, V., Olbrich, H, Kirschner, J, Schermer, B, Schmedding, I, Kispert, A, Kränzlein, B, Nürnberg, G, Becker, C, Grimm, T, Girschick, G, Lynch,SA, Kelehan, P, Senderek, J., Neuhaus, TJ, Stallmach, T, Zentgraf, H, Nürnberg, P, Gretz, N, Lo, C, Lienkamp, S, Schäfer, T, Walz, G, Benzing, T, Zerres, K., Omran, H
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.
Am J Hum Genet (82) (2008): 959-70

Ortiz-Brüchle, N., Frank, J, Frank, V., Senderek, J., Akar, A, Koc, E, Rigopoulos, D, van Steensel, M, Zerres, K., Bergmann, C.
RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4.
J Invest Dermatol (128) (2008): 791-6

Frank, V., den Hollander, AI, Ortiz-Brüchle, N., Zonneveld, MN, Nürnberg, G, Becker, C, du Bois, G., Kendziorra, H, Roosing, S, Senderek, J., Nürnberg, P, Cremers, FP, Zerres, K., Bergmann, C.
Mutations of the CEP 290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
Hum Mutat. (29) (2008): 45-52

Engels, H, Eggermann, T., Caliebe, A, Jelska, A, Schubert, R, Schüler, H.M., Panasiuk, B., Zaremba, J, Latos-Bieleska, A, Jakubowski, L, Zerres, K., Schwanitz, G, Midro, AT
Genetic counseling in Robertsonian translocation der(13;14): frequencies of reproductive outcomes and infertility in 101 pedigrees.
Am J Med Genet A. (146A) (2008): 2611-2616

Mütze, S., Leeners, B, Ortlepp, JR, Kuse, S, Tag, CG, Weiskirchen, R, Gressner, AM, Rudnik-Schöneborn, S., Zerres, K., Rath, W
Maternal Factor V Leiden mutation is associated with HELLP syndrome in Caucasian women.
Acta Obstet Gynecol Scand (87) (2008): 635-642

Gamerdinger, U, Eggermann, T., Schubert, R, Schwanitz, G, Kreiss-Nachtsheim, M
Rare interstitial deletion 9q31.2 to q33.1 de novo: longitudinal study in a patient over a period of more than 20 years.
Am J Med Genet A. (146A) (2008): 1180-1184

Roos, A., Eggermann, T., Zerres, K., Schüler, H.M.
Polymorphic subtelomeric deletion 1q demonstrates the need to reevaluate subtelomere screening methods: determination of the boundary between pathogeneic deletion and benign variant for subtelomere 1q.
Am J Med Genet A (146 A) (2008): 795-8

Roos, A., Elbracht, M., Baudis, M, Senderek, J, Schönherr, N., Eggermann, T., Schüler, H.M.
A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant.
Am J Med Genet A (146A) (2008): 2417-20

Rudnik-Schöneborn, S., Zerres, K., Häusler, M, Lott, A, Krings, T, Schüler, H.M.
A new case of proximal monosomy 1p36, extending the phenotype.
Am J Med Genet A (146A) (2008): 2018-22

Kaindl, AM, Guenther, UP, Rudnik-Schöneborn, S., Varon, R, Zerres, K., Gressens, P, Schuelke, M, Hubner,C, von Au, K
Distal spinal-muscular atrophy 1 (DSMA1 oder SMARD1).
Arch Pediatr. (15) (2008): 1568-72

Brakensiek, K, Frye-Boukhriss, H, Mälzer, M, Abramowicz, M, et al, Bergmann, C.
Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia.
Clin. Genet (74) (2008): 171-7

Eggermann, T., Schönherr, N., Eggermann, K., Buiting, K, Ranke, MB, Wollmann, HA, Binder, G
Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome.
Clin Genet (73) (2008): 79-84

Eggermann, T., Schönherr, N., Jäger, S, et al
Segmental maternal UPD(7q) in Silver-Russell syndrome.
Clin. Genet. (74) (2008): 486-9

Identification of a founder mutation in TPM3 in nemaline myopathy patients of turkish origin.
Eur J Hum Genet 2008 (16) (2008): 1055-61

Arbeiter A, Buscher R, Bonzel KE, Wingen AM, Vester U, Wohlschläger J, Zerres, K., Nurnberger J, Bergmann, C., Hoyer PF
Nephrectomy in an autosomal recessive polycystic kidney disease (ARPKD) patient with rapid kidney enlargement and increased expression of EGFR.
Nephrol Dial Transplant 23 (2008): 3026-3029

Eggermann, T., Eggermann, K., Elbracht, M., Zerres, K., Rudnik-Schöneborn, S.
A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches .
Neuromuscular Disorders 18(2) (2008): 146-149

Eggermann, T., Gamerdinger U, Knöpfle G, Pätzold U, Gembruch U, Hansmann M, Schwanitz G, Hansmann D
Mosaic Trisomy 1q Due to a de novo Translocation in a Foetus with Early Developmental Abnormalities (Karyotype 46,XY,der(14),t(1;14)(p11;p11.2)/ 46,XY) Delineation of Parent and Cell Stage of Origin.
Int J Hum Genet 8(4) (2008): 317-323

Eggermann, T., Meyer E, Caglayan AO, Dundar M, Schönherr, N.
ICR1 Epimutations in 11p15 are Restricted to patients with Silver-Russell Syndrome Features.
J Pediatr Endocrinol Metab 21 (2008): 59-62

Kaindl AM, Guenther UP, Rudnik-Schöneborn, S., Varon R, Zerres, K., Schuelke M, Hubner C, von Au K
Spinal muscular atrophy with respiratory distress type 1 (SMARD1).
J Child Neurol 23(2) (2008): 199-204

Mütze, S., Rudnik-Schöneborn, S., Zerres, K., Rath W
Genes and the preeclampsia a syndrome.
J Perinatal Med 36(1) (2008): 38-58

Roos, A., Eggermann, T., Zschiesche S, Midro A, Schwanitz G
Abnormalities in tooth morphology, structure and denition in two children with chromosome aberrations. Translocation trisomy 13 and trisomy 21.
Advances in Medical Sciences 53(1) (2008): 17-20

Rudnik-Schöneborn, S., Heller R, Berg C, Betzler C, Grimm T, Eggermann, T., Eggermann, K., Wirth R, Wirth B, Zerres, K.
Congenital heart disease is a feature of severe infantile spinal muscular atrophy.
J Med Genet 45(10) (2008): 635-638

Schönherr, N., Binder G, Korsch E, Kämmerer E, Wollmann HA, Eggermann, T.
Are H19 variants associated with Silver-Russell Syndrome?.
J Ped Endo Meta 21 (2008): 985-993

Wiesmüller GA, Niggemann H, Weißbach W, Riley F, Maarouf Z, Dott W, Kunert HJ, Zerres, K., Eggermann, T., Blömeke B
Sequence Variations in Subjects with Self-Reported Multiple Chemical Sensitivity (sMCS): A Case-Control Study.
J Toxicol Environ Health Part A 71 (2008): 786-794

Stahl S, Gaetzner S, Voss K, Brackertz B, Schleider E, Sürücü O, Kunze E, Netzer C, Korenke C, Finckh U, Habek M, Poljakovic Z, Elbracht, M., Rudnik-Schöneborn, S., Bertalanffy H, Sure U, Felbor U
Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: In-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.
Hum Mutat 29(5) (2008): 709-717

Zeschnigk M, Albrecht B, Buiting K, Kanber D, Eggermann, T., Binder G, Gromoll J
IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia.
Eur J Hum Genet 16(3) (2008): 328-334

Kaisaki PJ, Bergmann, C., Brown JH, Outeda P, Lens XM, Peters DJ, Gretz N, Gauguier D, Bihoreau MT
Genomic organization and mutation screening of the human ortholog of PKDR1 associated with polycystic kidney disease in the rat.
Eur J Med Genet 51(4) (2008): 325-331

Schönherr, N., Jäger S, Ranke MB, Wollmann HA, Binder G, Eggermann, T.
No evidence for isolated imprinting mutations in the PEG1/MEST locus in Silver-Russell patients.
Eur J Med Genet 51(4) (2008): 322-324

Krug A, Markov V, Leube D, Zerres, K., Eggermann, T., Nöthen MM, Skowronek MH, Rietschel M, Kircher T
Genetic variation in the schizophrenia-risk gene neuregulin1 correlates with personality traits in healthy individuals.
Eur Psychiatry 23(5) (2008): 344-349

Sheldrick AJ, Krug A, Markov V, Leube D, Michel TM, Eggermann, T., Kircher T
Effect of COMT val158met genotype on cognition and personality.
Eur Psychiatry 23(6) (2008): 385-389

Eggermann, K., Schönherr, N., Ranke MB, Wollmann HA, Binder G, Eggermann, T.
Search for subtelomeric imbalances by multiplex ligation-dependent probe amplification in Silver-Russell syndrome.
Genet Test 12(1) (2008): 111-113

Knyrim E, Mütze, S., Eggermann, T., Rudnik-Schöneborn, S., Lindt R, Ortlepp JR, Rath W, Zerres, K.
Genetic analysis of the angiotensinogen gene in pre-eclampsia: study of german women and review of the literature.
Gynecol Obstet Invest 66(3) (2008): 203-208

Frank, V., Hollander AI, Ortiz-Brüchle, N., Zonneveld MN, Nürnberg G, Becker C, Du Bois G, Kendziorra H, Roosing S, Senderek, J., Nürnberg P, Cremers FP, Zerres, K., Bergmann, C.
Mutations if the CEP 290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
Hum Mutat 29(1) (2008): 45-52

Binder G, Seidel AK, Martin DD, Schweizer R, Schwarze CP, Wollmann HA, Eggermann, T., Ranke MB
The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration.
J Clin Endocrinol Metab 93(4) (2008): 1402-1407

Rudnik-Schöneborn, S., Heller R, Berg C, Betzler C, Grimm T, Eggermann, T., Eggermann, K., Wirth R, Wirth B, Zerres, K.
Congenital heart disease is a feature of svere infantile spinal muscular atrophy.
J med Genet 45(10) (2008): 635-638

Aichinger E, Zerres, K., Grimm T
Basics of prenatal diagnostics.
Med. Genet. 20(3) (2008): 315-324

Krug A, Markov V, Eggermann, T., Krach S, Zerres, K., Stöcker T, Shah NJ, Schneider F, Nöthen MM, Treutlein J, Rietschel M, Kircher T
Genetic variation in the schizophrenia-risk gene neuregulin1 correlates with differences in frontal brain activation in a working memory task in healthy individuals.
Neuroimage 42(4) (2008): 1569-1576

Huehne K, Zweier C, Raab K, Odent S, Bonnaure-Mallet M, Sioux JL, Landrieu P, Goizet C, Sarlangue J, Baumann M, Eggermann, T., Rauch A, Ruppert S, Stettner GM, Rautenstrauss B
Novel missence, insertion and deletion mutations in the neurotrophic tyrosien kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.
Neurmuscul Disord 18(2) (2008): 159-166

Rudnik-Schöneborn, S., Weis J, Kress W, Häusler M, Zerres, K.
Becker's muscular dystrophy aggravating facioscapulohumeral muscular dystrophy-double trouble as an explanation for an atypical phenotype.
Neuromuscul Disord 18(11) (2008): 881-885

Eggermann, T., Eggermann, K., Schönherr, N.
Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome.
Trends Genet 2008 (2008): 195-204

Arikyants N, Sarkissian A, Hesse A, Eggermann, T., Leumann E, Steinmann B
Xanthinuria type I. a rare cause of urolithiasis.
Pediatr Nephrol 22(2) (2007): 310-314

Bergmann, C., Zerres, K.
Early manifestations of polycystic kidney disease.
Lancet 369(9580) (2007): 2157

Bicanski B, Wenderdel M, Mertens PR, Senderek, J., Panzer U, Steinmetz O, Stahl RAK, Cerullo G, Torres D, Schena FP, Zerres, K., Floege J
PDGF-B gene single-nucleotide polymorphisms are not predictive for disease onset or progression of IgA nephropathy.
Clin Nephrol 67(2) (2007): 65-72

Eggermann, T., Elbracht, M., Haverkamp F, Schmidt C, Zerres, K.
Isolated cystinuria (OMIM 238200) is not a seperate entiy but is caused by a mutation in the cystinuria gene SLC7A9.
Clin Genet 71(6) (2007): 597-598

Eggermann, T., Meyer, E., Schönherr, N., Flick F, Chauvistré H, Mavany M
Mutation analysis of GNAS1 and overlapping transcripts in Silver-Russell syndrome patients.
Mol Gen Metabol 90(2) (2007): 224-226

Eggermann, T., Schönherr, N., Eggermann, K., Wollmann H
Hypomethylation in the 11p15 telomeric imprinting domain in a patient with Silver-Russell syndrome with a CSH1 deletion (17q24) renders a functional role of this alteration unlikely.
J Med Genet 44(4) (2007): e77

Elbracht, M., Senderek, J., Eggermann, T., Thuermer C, Park J, Westhofen M, Zerres, K.
Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.
J Med Genet 44(6) (2007): e81

Frank, V., Ortiz-Brüchle, N., Mager S, Frints SG, Bohring A, du Bois G, Debatin I, Seidel H, Senderek J, Besbas N, Todt U, Kubisch C, Grimm T, Teksen F, Balci S, Zerres, K., Bergmann, C.
Aberrant splicing is a common mutational mechanosms in MKS1, a key player in Meckel-Gruber syndrome.
Human Mutat 28(6) (2007): 638-639

Karges B, Bergmann, C., Scholl K, Heinze E, Rasche FM, Zerres, K., Debatin KM, Wabitsch M, Karges W
Digenic inheritance of hepatocyte nuclear factor-1alpha and-1beta with maturity-onset diabetes of the young, polycystic thyroid and urogenital malformations.
Diabetes Care 30(6) (2007): 1613-1614

Mütze, S., Ahillen I, Rudnik-Schöneborn, S., Eggermann, T., Leeners B, Neumaier-Wagner, P., Kuse S, Rath W, Zerres, K.
Neither maternal nor fetal mutation (E474Q) in the -subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome.
J Perinat Med 35 (2007): 76-78

Mütze, S., Eggermann, T., Leeners B, Birke C, Kuse S, Ortlepp JR, Rudnik-Schöneborn, S., Zerres, K., Rath W
The 4G/5G polymorphisms in the plasminogen activator inhibitor-1 gene is not associated with HELLP syndrome.
J Throm Thrombolysis 27(2) (2007): 141-145

Neusch C, Senderek, J., Eggermann, T., Elolff E, Baehr M, Schneider-Gold C
Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy.
Eur J Neurol 14 (2007): 575-577

Rice G, Patrick T, Parmar R , Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann, C., et al
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Am J Hum Genet 81(4) (2007): 713-725

Rudnik-Schöneborn, S., Botzenhart, E., Eggermann, T., Senderek, J., Schoser BGH, Schroeder R, Wehnert M, Wirth B, Zerres, K.
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy.
Neurogenetics 8 (2007): 137-142

Rudnik-Schöneborn, S., Zerres, K.
Spinale Muskelatrophien des Kindes- und Jugendalters.
Neuropädiatrie in Klinik und Parxis 6(3) (2007): 88-98

Schmitz F, Mevissen V, Krantz C, Kimmel M, Erdmann J, Hoffmann R, Zerres, K., Ortlepp JR
Robust association of the APO4 allele with premature myocardial infarction especially in patients without hypercholesterolaemia: the Aachen study.
Eur J Clin Invest 44(1) (2007): 59-63

Schönherr, N., Meyer, E., Roos, A., Schmidt A, Wollmann HA, Eggermann, T.
The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.
J Med Genet 44(1) (2007): 59-63

Seitz CS, van Steensel M, Frank J, Senderek, J., Zerres, K., Hamm H, Bergmann, C.
The Wnt signalling ligand RSPO4, causing inherited anonychia, is not mutated in a patient with congenital nail hypoplasia/aplasia with underlying skeletal defects.
Br J Dermatol 157(4) (2007): 801-802

Stendel C, Roos, A., Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J, Korinthenberg R, Ketelsen UP, Battaloglu E, Parman Y, Nicholson G, Ouvrier R, Seeger J, Jonghe PD, Weis J, Kruttgen A, Rudnik-Schöneborn, S., Bergmann, C., Suter U, Zerres, K., Timmermann V, Relvas JB, Senderek, J.
peripheral nerve demyelination by a mutant Rho GTPase guanine Nucleotide exchange factor/FGD4.
Am J Hum Genet 81(1) (2007): 158-164

Azzedine H, Ravise N, Verny C, Gabreels-Festen A, Lammens M, Grid D, Vallat JM, Durosier G, Senderek, J., Nouioua Shm adouche T, Bouhouche A, Guilbot A, Stendel C, Ruberg M, Brice A, Birouk N, Dubourg O, Tazir M, LeGuern E
Spine deformities in Charcot -Marie-Tooth 4C caused by SH3TC2 gene mutations.
Neurol 67 (4) (2006): 602-606

Bartsch, O., Ergun, M.A., Balci, S., Kan, D., Eggermann, T., Kotzot, D.
Two complementary recombinat chromosomes 5 in a healthy woman.
Cytogenet Genome Res 2006 (114) (2006): 178-182
Abstract

Binder, G., Seidel, AK, Weber, K., Haase, M., Wollmann, H.A., Ranke, M.B., Eggermann, T.
IGF-II serum levels are normal in children with Silver-Russell syndrome who frequently carry epimutations at the IGF2 locus.
J Clin Endo Metab 2006 (91) (2006): 4709-4712

Binder, G., Wollmann, H.A., Eggermann, T., Seidel, A.K., Weber, K., Haase, M., Ranke, M.B.
Endocrine biochemistry of IGF-II does not reflect epigenetics in Silver-Russell syndrome.
Hormone Res. 2006

Bosserhoff, AK., Grussendorf-Conen, E.L., Rubben, A., Rudnik-Schöneborn, S., Zerres, K., Buettner, R., Merkelbach-Bruse, S.
Multiple colon carcinomas in a patient with Cowden syndrome.
Int J Mol Med 2006 (18): 643-647
Abstract

Brauers, E., Schmidt, C., Zerres, K., Eggermann, T.
Functional characterization of SLC7A9 polymorphisms assumed to influence the cystinuria phenotype.
Clin Nephrol 2006 (65) (2006): 262-266
Abstract

Bergmann, C., Frank, V., Kuepper, F., Kamitz, D., Hanten, J., Berges, P., Mager, S., Moser, M., Kirfel, J., Buettner, R., Senderek, J., Zerres, K.
Diagnosis, pathogenesis, and treatment prospects in cystic kidney disease.
Mol Diagn Ther 2006 (10) (2006): 163-174
Abstract

Bergmann, C., Frank, V., Kuepper, F., Schmidt, C., Senderek, J., Zerres, K.
Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease.
J Hum Genet 2006 (51) (2006): 788-793
Abstract

Eggermann, T., Schönherr, N., Meyer, E., Obermann, C., Mavany, M., Eggermann, K., Ranke, M.B., Wollmann, H.A.
Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain.
J med Genet 2006 (43) (2006): 615-616
Abstract

Eggermann, T., Krause-Plonka, I., Wollmann, H.A., Zerres, K., Dai, G., Meyer, E., Bartsch, O.
Supernumerary marker chromosome 7 and maternal uniparental disomy 7 in a boy with growth retardation and triangular face.
Clin Dysmorphol 15 (2006): 9-12
Abstract

Eter, N., Zerres, K., Propping, P., Roggenkamper, P., Spitznas, M.
Severe persistent nasolacrimal duct obstruction: a typical finding in ADULT syndrome.
Brit J ophthal 2006 (90) (2006): 1206-1207

Gamerdinger, U., Bosse, K., Eggermann, T., Kalscheuer, V., Schwanitz, G., Engels, H.
First report of a partial trisomy 3q12-q23 de novo- FISH breakpoint determination and phenotypic characterization.
Eur J Med Genet 2006 (49): 225-234
Abstract

Garvey SM, Senderek, J., Beckmann JS, Seboun E, Jackson CE, Hauser MA
Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM).
Annals of Human Genetics (70) Part 3 (2006): 414-416
Abstract

Holzinger A, Bonfig W, Kusser B, Eggermann, T., Muller H, Munch HG
Use of long-term microdialysis subcutaneous glucose monitoring in the management of neonatal diabetes - A first report.
Biol Neonate (89) (2006): 88-91
Abstract

Janssens, K., Vanhoenacher, F., Bonduelle, M., Verbruggen, L., Van Maldergem, L., Ralston, S., Guanabens, N., Migone, N., Wientroub, S., Divizia, MT., Bergmann, C., Bennett, C., Simsek, S., Melancon, S., Cundy, T., Van Hul, W.
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.
J Med Genet 43 (2006): 1-11

Kirfel, J., Senderek, J., Moser, M., Röper, A., Stendel, C., Bergmann, C., Zerres, K., Buettner, R.
Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease.
Gene Expr Patterns 2006 (6) (2006): 978-984
Abstract

Knyrim, E., Mütze, S., Eggermann, T., Rudnik-Schöneborn, S., Neumaier-Wagner, P., Ortlepp, J.R., Zerres, K., Rath, W.
Mutational analysis and 2006 association study of the human angiotensinogen gene (AGT) in German patients with preeclampsia.
Hyper Pregn. 2006.

Lahme S, Zimmermanns V , Stenzl, Brauers E, Lang F, Eggermann, T.
Role of mutations in the sodium dicarboxylate cotransporter-1 (NaDC1) in the etiology of hypocitraturia in calcium-oxalate stone disease.
Journal of Urology. 2006.

Baudis, M.
Distance-based clusterin of CGH data.
Bioinformatics 2006 (22) (2006): 1971-1978
Abstract

Mutzels, S., Kapagerof, A., Eggermann, T., Rudnik-Schöneborn, S., Neumaier-Wagner, P., Lindt, R., Kaufmann, P., Zerres, K., Rath, W.: Role of genomic variants in the IGF-I gene and the IGF-IR gene in the aetiology of IUGR with ARED flow.
Hyper Pregn. 2006.

Ortlepp. J.R., Pillich, M., Mevissen, V., Krantz, C., Kimmel, M., Autschbach, R., Langebartels, G., Erdmann, J., Hoffmann, R., Zerres, K.
APOE alleles are not associated with calcific aortic stenosis.
Heart 2006 (92) (2006): 1463-1466
Abstract

Prelog, M., Bergmann, C., Aussenlechner, M.J., Fischer, H., Margreiter, R., Gassner, I., Brunner, A., Jungraithmayr, T.C., Zerres, K., Segri, EC, Zimmerhackl, L.B.
Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation.
Pediatric Transplantation 2006 (10) (2006): 362-366
Abstract

Roos, A., Rudnik-Schöneborn, S., Eggermann, K., Eggermann, T., Senderek, J., Schwanitz, G., Zerres, K., Schüler, H.M.
Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH.
Eur J Med Genet 49 (6) (2006): 505-10
Abstract

Rudnik-Schöneborn, S., Schneider-Gold C, Raabe U, Kress W, Zerres, K., Schoser BGH
Outcome and effect of pregnancy in myotonic dystrophy type 2.
Clinical Neurology (66) (2006): 579-580
Abstract

Schena FP, Cerullo G, Torres DD, Scolari F, Foramitti M, Amoroso A, Pirulli D, Floege R, Mertens PR, Zerres, K., Alexopoulos E, Kirmizis D, Zelante L, Bisceglia L
Role of interferon-gamma gene polymorphisms in susceptibility to IgA nephropathy: a family-based association study.
Eur J Human Genet (14) (2006): 488-496
Abstract

Eggermann, T., Schönherr, N., Meyer, E., Obermann, C., Mavany, M., Eggermann, K., Ranke, M.B., Wollmann, H.A.
Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain.
J med Genet 2006 (43) (2006): 615-616
Abstract

Schroeder, J.M., Senderek, J., Zuchner, S., Weis, J.
Amyelination, hypomyelination, demyelination and remyelination in peripheral neuropathies with or without identified mutations.
Neur Dis. 2006.

Schroeder, J.M., Senderek, J., Weis, J.
Marinesco Sjogren syndrome: correlation of nuclear changes to mutations in BAP/SIL1.
Acta Neuropath. 2006.

Schwabedissen, C., Mevissen, V., Schmitz, F., Woodruff, S., Langebartels, G., Rau, T., Zerres, K., Hoffmann, R., Ortlepp, J.
Obesity is associated with a slower response to initial phenprocoumon therapy whereas CYP2C9 genotypes are not. .
Eur J Clin Pharmacol 2006 (62): 713-720
Abstract

Vlachopoulus, L., Mütze, S., Eggermann, T., Rudnik-Schöneborn, S., Neumaier-Wagner, P., Lindt, R., Kaufmann, P., Zerres, K., Rath, W.
Mutation analysis of the PIGF gene and the FLT1 gene in pregnancies with IUGR and ARED or PED flow.
Hyper Pregn. 2006.

Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres, K., Durie PR, Beier M, Hulskamp G, Guzman C, Rehder H, Beemer FA, Hamel B, Vanlieferinghen P, Gershoni-Baruch R, Vieira MW, Dumic M, Auslender R, Gil-da-Silva-Lopes VL, Steinlicht S, Rauh M, Shalev SA, Thiel C, Ekici AB, Winterpacht A, Kwon YT, Varshavsky A, Reis A
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
Nat Genet (38) (2006): 265

Eggermann, T., Zerres, K., Anhuf, D., Kotzot, D., Fauth, C., Rudnik-Schöneborn, S.
Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene.
European Journal of Human Genetics 13 (2005): 309-313

Schmidt, C., Lahme, S., Zerres, K., Eggermann, T.
Functional analysis of a new splice site mutation, c.605-3CA, in the cystinuria gene SLC7A9 leading to exon skipping.
Molecular Genetics and Metabolism 84 (2005): 172-185

Bergmann, C., Küpper, F., Dornia, C., Schneider, F., Senderek, J., Zerres, K.
Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).
Hum Mutat 25 (2005): 225-231

Bergmann, C., Senderek, J., Windelen, E., Küpper, F., Middeldorf, I., Schneider, F., Dornia, C., Rudnik-Schöneborn, S., Konrad, M., Schmitt CP, Seeman, T., Neuhaus TJ, Vester, U., Kirfel, J., Büttner, R., Zerres, K., Arbeitsgemeinschaft für Pädiatrische Nephrologie (APN)
Clinical consequences of PKHD1 mutations in 164 patients with autosomal recessive polycystic kidney disease (ARPKD).
Kidney Int. 67 (2005): 829-848

Eggermann, K., Bergmann, C., Heil, I., Eggermann, T., Zerres, K., Schüler, H.M.
Rare proximal interstitial deletion of chromosome 4q, del(4)(q13.2q21.22): New Case and comparison with the literature.
Am. J. Med. Genet. A 134 (2005): 226-228

Moser, M., Matthiesen, S., Kirfel, J., Schorle, H., Bergmann, C., Senderek, J., Rudnik-Schöneborn, S., Zerres, K., Büttner, R.
A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD).
Hepatology 41 (2005): 1113-1121

Bergmann, C., Küpper, F., Schmitt, CP, Vester, U., Neuhaus, TJ, Senderek, J., Zerres, K.
Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD).
J Med Genet in press

Eggermann, T., Meschede, Schüler, H.M., Palm, Horsthemke, Eggermann, K., Haverkamp, Zerres, K.
Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3-qter.
Clin Genet 67 (2005): 434-437

Eggermann, T., Prager, S., Binder, G., Ranke, M.B., Wollmann, H.A.
Genetik des Silver-Russell-Syndroms. Stand der Forschung und diagnostische Awendung.
Monatsschrift Kinderheilkd 153 (2005): 264-272

Eggermann, T., Gamerdinger, U., Bosse, K., Heidrich-Kaul, C., Raff, R., Meyer, E., Heil, I., Schüler, H.M., Korsch, E., Schwanitz, G.
Mosaic tetrasomy 14pter-q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q.
Am J Med Genet 134A (2005): 305-308

Eggermann, K., Bergmann, C., Heil, I., Eggermann, T., Zerres, K., Schüler, H.M.
Rare proximal interstitial deletion of chromosome 4q, del(4)(q13.2q21.22): New case and comparison .
Am J Med Genet 134A (2005): 226-228

Häusler, M., Anhuf, D., Schüler, H.M., Ramaekers, VT, Thron, A., Zerres, K., Möller-Hartmann, W.
White-matter disease in 18q deletion (18q-) syndrome: magnetic resonance spectroscopy indicates demyelination or increased myelin turnover rather than dysmyelination.
Neuroradiol 47 (2005): 83-86

Rudnik-Schöneborn, S., Anhuf, D., Koscielnak, E., Zerres, K.
Alveolar rhabdomyosarcoma in infantile spinal muscular atrophy: coincidence or predisposition?.
Neuromuscular Dis 15 (2005): 45-47

Bergmann, C., Senderek, J., Schneider F, Dornia C, Küpper F, Eggermann, T., Rudnik-Schöneborn, S., Kirfel J, Moser M, Büttner R, Zerres, K.
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
Hum Mutat 23 (2004): 487-495

Bergmann, C., Senderek, J., Küpper F, Schneider F, Dornia C, Windelen E, Eggermann, T., Rudnik-Schöneborn, S., Kirfel J, Furu L, Onuchic LF, Rossetti S, Harris PC, Somlo S, Guay-Woodford L, Germino GG, Moser M, Büttner R, Zerres, K.
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
Hum Mutat 23 (2004): 453-463

Bergmann, C., Senderek, J., Windelen, E., Küpper, F., Middeldorf, I., Schneider, F., Dornia, C., Rudnik-Schöneborn, S., Konrad, M., Schmitt, CP., Seeman, T., Neuhaus, TJ, Vester, U., Kirfel, J., Büttner, R., Zerres, K.
Clinical consequences of PKHD1 mutations in 164 patients with autosomal recessive polycystic kidney disease (ARPKD).
Kidney Int (in press) (2004)

Bosse K, Eggermann, T., van der Veen K, Raff R, Engels H, Schwanitz G
Unbalanced translocation 8/Y (45,X-Y,-8,+t(Y;8)(q12p23): case report and review of the literature.
Ann Génét 47 (2004): 191-197

Dobos M, Fekete G, Raff R, Schubert R, Szabo J, Halasz Z, Lucas V, Eggermann, T., Schwanitz G
Ring chromosome 18: clinical, cytogenetic and molecular genetic studies on four patients.
Int J Hum Genet (2004): in Press

Eggermann, T., Meyer E, Wollmann HA
Quantification of GRB10 in 7p12-p14 by fluorogenic 5' nuclease chemistry and application for genetic diagnosis in Silver-Russell syndrome.
Ann Génét 47 (2004): 99-102

Eggermann, T., Curtis M, Lazda EJ, Zerres, K., Hughes EH
Maternal uniparental disomy 16 and genetic counseling: new case and survey of published cases.
Genet Couns 15 (2004): 183-190

Eggermann, T., Prager S, Binder G, Ranke MB, Zerres, K., Wollmann HA
Genetik des Silver-Russell-Syndroms: Stand der Forschung und diagnostische Anwendung.
Monatsschr Kinderhlkd (2004): in press

Eggermann, T.
Genetische Ursachen der SGA.
Kinder- und Jugendmedizin 3 (2004): 2-3

Eggermann, T.
IUGR aus genetischer Sicht.
Kinderärztl. Praxis (2004): in press

Faivre L, Le Merrer M, Zerres, K., Haris MB, Scheffer D, Young ID, Maroteaux P, Munnich A, Cormier-Daire V
Clinical and genetic heterogeneity in Desbuquois dysplasia.
Am J Med Genet 128A (2004): 29-32

Haverkamp F, Zerres, K., Rietz C, Noeker M, Ruenger M
Risk analyses for the cognitive phenotype in Turner's syndrome: Evidence of familial influence as a decisive factor.
J Child Neurol 29 (2004): 183-190

Kleta, R., Romeo, E., Ristic, Z., Ohura, T., Stuart, C., Arcos-Burgos, M., Dave, MH, Wagner, C., Camargo, SRM, Inoue, S., Matsuura, N., Helip-Wooley, A., Bockenhauer, D., Warth, R., Bernardini, I., Visser, G., Eggermann, T., Lee, P., Koizumi, A., Gahl, WA, Verrey, F.
Hartnup disorder caused by mutations in SLC6A19, the luminal Hartnup transporter hB0AT1.
Nature Genet in press (2004)

Obermann, C., Meyer, E., Prager, S., Tomiuk, J., Wollmann, HA., Eggermann, T.
Searching for genomic variants in IGF2 and CDKN1C in SRS patients.
Mol Genet Metabol 82 (2004): 246-250

Ortlepp, JR., Schmitz, F., Mevissen, V., Weiss, S., Huster, J., Dronskowski, R., Langebartels, G., Autschbach, R., Zerres, K., Weber, C., Hanrath, P., Hoffmann, R.
The amount of calcium-deficient hexagonal hydroxyapatite in aortic valves is influenced by gender and associated with genetic polymorphisms in patients with serve aortic stenosis.
Eur J Heart 25 (2004): 514-522

Rudnik-Schöneborn, S., Zerres, K.
Outcome in pregnancies complicated by myotonic dystrophy: a study of 31 patients and review of the literature.
Eur J Obstet Gynecol Reprod Biol 114 (2004): 44-53

Schmidt, C., Vester, U., Hesse, A., Lahme, S., Lang, S., Zerres, K., Eggermann, T.
The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria.
Urol Res 32 (2004): 75-78

Schmidt, C., Vester, U, Zerres, K., Eggermann, T.
No evidence for a role of SLC7A10 in 19q13 in the etiology of cystinuria.
Clinical Nephrology 1 (2004): 62, Letter to the editor

Senderek, J., Bergmann, C., Weber, S., Ketelsen, UP., Schorle, H., Rudnik-Schöneborn, S., Büttner, R., Buchheim, E., Zerres, K.
Mutation of the SBF2 gene, encoding a novel membrer of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.
Hum Mol Genet 13 (2004): 363

Wuyts, W., Waeber, G., Meinecke, P., Schüler, H.M., Goecke, TO., Hul, WV., Bartsch, O.
Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects .
Eur J Hum Genet 12 (2004): 400-406

Zerres, K., Senderek, J., Rudnik-Schöneborn, S., Eggermann, T., Kunze, J., Mononen, T., Kaarianen, H., Kirfel, J., Moser, M.
New options for prenatal diagnosis in autosomal recessive polycystic kidney disease (ARPKD) by mutation analysis of the PKHD1 gene.
Clin Genet 66 (2004): 53-57

Züchner, S., Mersiyanova, IV, Kuglia, M., Bissar-Tadmouri, N., Rochelle, J., Dadli, EL, Zappia, M., Nelis, E., Patitucci, A., Senderek, J., Parman, Y., Evgrafov, O., DeJonghe, P., Takahasi, Y., Tsuji, S., Perciak-Vance, MA, Quattrone, A., Battologlu, E., Polyakov, AV, Timmermann, V., Schröder, JM, Vance, JM
Mutations in the mitochondrial GTPase mitofusion 2 cause Charcot-Marie-Tooth neuropathy type 2A.
Nat Genet 36 (2004): 449-451

Wiesmüller, G.A., Zerres, K., Blömeke, B., Weißbach, W., Dott, W., Eggermann, T.
Genetische Disposition und Multiple Chemische Sensitivität (MCS): Stand des Wissens und Konsequenzen für die molekulargenetische Diagnostik.
Umweltmed Forsch Prax 9 (5) (2004): 275 - 280

Eggermann, T.
Intrauterine Wachstumsretriktion aus genetischer Sicht.
Kinderärztliche Praxis Sonderheft (Intrauteriner Kleinswuchs) (2004): 4-8

Dobos, M., Fekete, G., Schubert, R., Szabo, J., Halasz, Z., Lukacs, V., Eggermann, T., Schwanitz, G.
Ring Chromosome 18: Clinical, Cytogenetic and Molecular Genetic Studies on Four Patients.
Int J Hum Genet 4(3) (2004): 197-200

Anhuf, D., Eggermann, T., Rudnik-Schöneborn, S., Zerres, K.
Determination of SMN1 and SMN2 copy number using TaqMan trade mark technology.
Hum. Mutat. 22(1) (2003): 74-78

Bergmann, C., Senderek, J., Sedlacek, B., Pegiazoglou, I., Puglia, P., Eggermann, T., Rudnik-Schöneborn, S., Furu, L., Onuchic, L.F., De Baca, M., Germino, G.G., Guay-Woodford, L., Somlo, S., Moser, M., Büttner, R., Zerres, K.
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
J Am Soc Nephrol 14 (2003): 76-89

Eggermann, T., Meyer, E., Obermann, C., Wollmann, H.A.
Genetic disturbances in Silver-Russell syndrome and significance for molecular genetic testing.
Am J Hum Genet (2003): submitted

Meyer, E., Wollmann, H.A., Eggermann, T.
No evidence for a role of genomic variants in CIT1 in the etiology of Silver-Russell syndrome.
J Endocrin Genet 3 (2003): 161-163

Meyer, E., Wollmann, HA, Eggermann, T.
Genomic characterisation of C7orf10 in Silver-Russell syndrome patients .
J Med Genet 40(4) (2003): e44

Obermann, C., Meyer, E., Wollmann, H.A., Eggermann, T.
Searching for maternal UPD(11) in Silver-Russell syndrome patients.
Medgen (15) (2003): P232

Meyer, E., Eggermann, T., Sharp, A., Wollmann, H.A.
Genetic findings in Silver-Russell syndrome: up-date and applications for genetic diagnosis.
Medgen (15) (2003): P023

Bergmann, C., Zerres, K., Peschgens, T., Senderek, J., Hörnchen, H., Rudnik-Schöneborn, S.
Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC).
Am J Med Genet 121 (2003): 151-155

Bergmann, C., Zerres, K., Senderek, J., Rudnik-Schöneborn, S., Eggermann, T., Hausler, M., Mull, M., Ramaekers, VT
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostal ventricular enlargement and cerebellar hypoplasia.
Brain 126 (2003): 1537-1544

Eggermann, T., Schmidt, C., Lahme, S, Hesse, A, Lang, F, Zerres, K.
Molekulargenetik der Cystinurie: Stand der Forschung und Anwendung in der Diagnostik.
Nieren- und Hochdruckkrankheiten 32/10 (2003): 448-455

Eggermann, T., Zerres, K., Dott, W, Wiesmüller, GA
Multiple chemische Sensitivität (MCS): Strategien zur Aufklärung genetischer Prädisposition.
Allergologie 26 (7) (2003): 280-286

Eggermann, T., Zerres, K.
Quantification of GRB10 by 5'fluorescence nuclease chemistry in Silver-Russell syndrome patients.
Reproduktionsmedizin (19) (2003): 93-97

Fiedler, J., Bergmann, C., Brenner, R.
X-linked spondyloepiphyseal dysplasia tarda: Molecular cause of a heritable disorder associated with early degenerative joint disease.
Acta Orthop Scand. (im Druck) (2003)

Furu, L., Onuchic, LF, Gharavi, A., Hou, X., Esquivel, EL, Nagasawa, Y., Bergmann, C., Senderek, J., Avner, E., Zerres, K., Germino, GG, Guay-Woodford, LM, Somlo, S.
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.
J. Am. Soc. Nephrol. 14 (2003): 2004-2014

Grimm, T., Kreß, W., Müller, CR, Steinke, V., Rudnik-Schöneborn, S., Zerres, K.:  Neuromuskuläre Erkrankungen: Erbgang, Genort, Genprodukt, molekulargenetische Diagnostik. Jahrbuch der Neuromuskulären Erkrankungen. Hrsg. v. Pongratz D, Fischer W.
München: Arcis Verlag 2003

Grimm, T., Zerres, K.:  Grundlagen der Genetik muskuloskelettärer Erkrankungen. Orthopädie und Orthopädische Chirurgie. Hrsg. v. Witth CL, Zichner L.
Stuttgart: Thieme Verlag 2003

Grohmann, K., Varon, R., Stolz, P., Schuelke, M., Janetzki, C., Bertini, E., Bushby, K., Muntoni, F., Ouvrier, R., Van Maldergem, L., Goemans, N., Lochmüller, H., Eichholz, S., Adams, C., Bosch, F., Grattan-Smith, P., Navarro, C., Neitzel, H., Polster, T., Topaloglu, H., Steglich, C., Guenther, U.P., Zerres, K., Rudnik-Schöneborn, S., Huebner, C.
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Ann Neurol 54 (2003): 719-724

Hanemann, CO, Bergmann, C., Senderek, J., Zerres, K., Sperfeld, AD
Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation. .
Arch Neurol. 60(4) (2003): 605-609

Haverkamp, F., Keuker, T., Woelfle, J., Kaiser, G., Zerres, K., Rietz, C., Ruenger, M.
Familial factors and hearing impairment modulate the neuromotor phenotype in Turner syndrome.
Eur J Pediatr 162 (2003): 30-35

Helmken, C., Hofmann, Y., Schoenen, F., Oprea, G., Raschke, H., Rudnik-Schöneborn, S., Zerres, K., Wirth, B.
Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1.
Hum Genet 114 (2003): 11-21

Hermanns, B., Alfer, J., Fischedick, K., Stojanovic-Dedic, A., Rudnik-Schöneborn, S., Büttner, R., Zerres, K.
Pathologie und Genetik hereditärer Zystennieren.
Pathologe 24 (2003): 410-420

Janssens, K., ten Dijke, P., Ralston, SH, Bergmann, C., Van Hul, W.
Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increase signaling by altering either activation or secretion of the mutant protein.
J. Biol. Chem. 28; 278 (2003): 7718-7724

Laufersweiler-Plass, C., Rudnik-Schöneborn, S., Zerres, K., Backes, M., Lehmkuhl, G., von Gontard, A.
Behavioural problems in children and adolescents with spinal muscular atrophy and their siblings.
Developmental Medicine & Child Neurology 45 (2003): 44-49

Meincke, U., Kosinski, C., Zerres, K., Maio, G.
Psychiatrische und ethische Aspekte genetischer Diagnostik am Beipsiel der Chorea Huntington.
Nervenarzt 74 (2003): 413-419

Meyer, E., Wollmann, H.A., Eggermann, T.
No evidence for a role of genomic variants in CIT1 in the etiology of Silver-Russell syndrome.
J Endocrin Genet 3 (2003): 161-163

Eggermann, T., Meyer, E., Wollmann, H.A.
Quantification of GRB10 by 5'fluorescence nuclease chemistry in Silver-Russell syndrome patients.
Ann Génét (2003): in press

Eggermann, T., Curtis, M., Lazda, E.J., Zerres, K., Hughes, E.H.
Maternal uniparental disomy 16 and genetic counselling: new case and survey of published cases.
Genet Couns (2003): in press

Eggermann, T., Zerres, K.
Uniparental disomy and Robertsonian translocation: risk estimation and prenatal diagnosis.
Mol Diagnosis 2003 (7) (2003): 113-117

Meyer, E., Wollmann, HA, Eggermann, T.
Searching for genomic variants in the MESTIT1 transcript in Silver-Russell syndrome patients .
J Med Genet 40(5) (2003): E65

Nagasawa, Y., Matthiesen, S., Onuchic, LF, Hou, X., Bergmann, C., Esquivel, E., Senderek, J., Ren, Z., Zeltner, R., Furu, L., Avner, E., Moser, M., Somlo, S., Guay-Woodford, L., Buettner, R., Zerres, K., Germino, GG
Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene .
J Am Soc Nephrol 13(9) (2003): 2246-2258

Ortlepp, JR, Metrikat, J., Mevissen, V., Schmitz, F., Albrecht, M., Maya-Pelzer, P., Hanrath, P., Zerres, K., Hoffmann, R.
Relation between the angiotensinogen (AGT) M235T gene polymorphismus and blood pressure in a large, homogeneus study population.
J. Hum. Hypertens. 17(8) (2003): 555-559

Ortlepp, JR, Metrikat, J., Vesper, K., Mevissen, V., Schmitz, F., Albrecht, M., Maya-Pelzer, P., Hanrath, P., Weber, C., Zerres, K., Hoffmann, R.
The interleukin-6 promoter polymorphism is associated with elevated leukocyte, lymphocyte, and monocyte counts and reduced physical fitness in young healthy smokers.
J Mol Med 2003 (81) (2003): 578-584

Ortlepp, JR, Korff von, A., Hanrath, P., Zerres, K., Hoffmann, R.
Vitamin D receptor gene polymorphism Bsml is not associated with the prevalence and severity of CAD in a large-scale angiographic cohort of 3441 patients.
Eur J Clin Invest 2003 (33) (2003): 106-109

Prager, S., Wollmann, H.A., Mergenthaler, S., Mavany, S., Eggermann, K., Ranke, M.B., Eggermann, T.
Characterisation of genomic variants in CSH1 and GH2, two candidates for Silver-Russell syndrome in 17q22-q24.
Genetic Testing 2003 (7) (2003): 259-264

Ramekers, V, Hansen, SI, Holm, J, Opladen, T, Senderek, J., Häusler, M, Heimann, G, Fowler, B, Maiwald, R, Blau, N
Reduced folate transport to the CNS in female Rett patients..
Neurology 2003 (61) (2003): 506-515

Rudnik-Schöneborn, S., Goebel, H.H., Schlote, W., Molaian, S., Omran, H., Ketelsen, U., Korinthenberg, R., Wenzel, D., Lauffer, H., Kreiß-Nachtsheim, M., Wirth, B., Zerres, K.
Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy.
Neurology 60 (2003): 983-987

Rudnik-Schöneborn, S., Sztriha, L., Aithala, G.R., Houge, G., Laegreid, L.M., Seeger, J., Hupke, M., Wirth, B., Zerres, K.
Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy.
Journal of Medical Genetics 117A (No.1) (2003): 10-17

Schmidt, C., Tomuik, J., Botzenhart, E., Vester, U., Hesse, A., Zerres, K., Eggermann, T.
Genetic variations in the SLC7A9 gene: distribution of 13 polymorphic sites in German cystinuria patients and controls.
Clinical Nephrology 59 (5) (2003): 353-359

Schmidt, C., Vester, U., Wagner, C.A., Lahme, S., Hesse, A., Hoyer, P., Lang, F., Zerres, K., Eggermann, T.
Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria.
Kidney Internat (2003): in press

Schroeder, R., Goudeau, B., Simon, MC, Fischer, D., Clemens, CS, Li, Z., Reimann, J., Xue, Z., Rudnik-Schöneborn, S., Zerres, K., Ven, van der PF., Furst, DO., Kunz, WS., Vicart, P.
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.
Hum Mol Genet 12(6) (2003): 657-669

Senderek, J., Bergmann, C., Ramaekers, VT, Nelis, E., Bermert, G., Makowski, A., Zuchner, S., De Jonghe, P., Rudnik-Schöneborn, S., Zerres, K., Schröder, JM
Mutations in the ganglioside-induced differentatiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy..
Brain 126 Pt3) (2003): 642-649

Senderek, J., Bergmann, C., Stendel, C, Kirfel, J, Verpoorten, N, De Jonghe, P, Timmerman, V, Charst, R, Verheijen, G, Lemke, G, Battaloglu, E, Parman, Y, Erdem, S, Tan, E, Topaoglu, H, Hahn, A, Müller-Felber, W, Rizzuto, N, Fabrizi, GM, Stuhrmann, M, Rudnik-Schöneborn, S., Züchner, S, Schröder, JM, Buchheim, E, Straub, V, Klepper, J, Huehne, K, Rautenstrauss, B, Büttner, R, Nelis, E, Zerres, K.
Mutations in a gene encoding a novel SH3/TRP domain protein cause autosomal recessive Charcot-Marie-tooth type 4C neuropathy.
Am J Hum Genet 73 (2003): 1106-1119

Senderek, J., Bergmann, C., Weber, S., Ketelsen, UP, Schorle, H., Rudnik-Schöneborn, S., Buettner, R., Buchheim, E., Zerres, K.
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15 .
Hum Mol Genet 12(3) (2003): 349-356

Wiesmüller, GA, Weißbach, W, Mommers, M, Weishoff-Houben, M, Dott, W, Karaahmetoglu, Y, Kunert, HJ, Podoll, K, Hoff, P, Blömeke, B, Merk, HF, Setani, K, Büll, U, Ilgner, J, Westhofen, M, Ortlepp, JR, Hanrath, P, Zerres, K., Eggermann, T.
Einflüsse von genetischen Prädispositionen und Umweltfaktoren auf Erkrankungen des Menschen.
Arbeitsmed. Sozialmed. Umweltmed. 38 (10) (2003): 522-527

Spinale Muskelatrophien. Neuromuskuläre Erkrankungen. Hrsg. v. Pongratz D, Zierz S.
Köln: Dt. Ärzteverlag Köln 2003

Zerres, K.
Auch die DNA wird 50 - Humangenetische Beratung und Aufklärung ist heute wichtiger denn je!.
Zeitfenster, Thomas Morus Akademie Bensberg (2003): 24-25

Zerres, K., Rudnik-Schöneborn, S., Senderek, J., Eggermann, T., Bergmann, C.
Autosomal recessive polycystic kidney disease (ARPKD).
J. Nephrol. 16 (2003): 453-458

Zerres, K., Rudnik-Schöneborn, S.
Proximale spinale Muskelatrophien.
Ärztebl Thüring 14 (2003): 766-769

Zerres, K., Scholz, C.
Seltene Erkrankungen - eine komplexe Herausforderung.
Medgen 15 (2003): 3-5

Zerres, K.
Humangenetische Beratung.
Dtsch Ärztebl 100 (2003): A2720 - 2727

Zerres, K., Rudnik-Schöneborn, S., Senderek, J., Eggermann, T., Bergmann, C.
Autosomal recessive polycystic kidney disease (ARPKD).
J. Nephrol. 16 (2003): 453-458

Zuchner, S., Sperfeld, AD, Sellhaus, B., Hanemann, CO, Schroeder, JM, Senderek, J.
A novel nonsense mutation in the ABC1 gene causes a servere syringomyelia-like phenotype of Tangier disease.
Brain 126(Pt4) (2003): 920-927

Aslani, A., Kleiner, U., Noah, EM, Rudnik-Schöneborn, S., Pallua, N.
Extensor-tendon hypoplasia and multiple pterygia: Escobar syndrome in a 7-year-old boy.
Br J Plast Surg 55 (2002): 516-519

Bergmann, C., Zerres, K., Rudnik-Schöneborn, S., Eggermann, T., Schröder, J.M., Senderek, J.
Allelic variants in the 5' non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linkex Charcot-Marie-Tooth neuropathy (CMTX).
Journal of Medical Genetics 39 (2002): e58

Borkowska, J., Rudnik-Schöneborn, S., Hausmanowa-Petrusewicz, I., Zerres, K.
Early infantile form of spinal muscular atrophy (Werdnig-Hoffmann disease) with prolonged survivial.
Folia Neuropathol 40 (2002): 19-26

Botzenhart, E., Vester, U., Schmidt, C., Hesse, A., Halber, M., Wagner, C., Lang, F., Hover, P., Zerres, K., Eggermann, T.
Cystinuria in children: Distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes..
Kidney International 62 (2002): 1136-1142

Eggermann, K., Mau, U.A., Bujdosó, G., Koltai, E., Engels, H., Schubert, R., Eggermann, T., Raff, R., Schwanitz, G.
Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases.
Clin Genet 62 (2002): 89-93

Eggermann, T., Zerres, K., Eggermann, K., Moore, G., Wollmann, H.A.
Uniparental disomy: clinical indications for testing in growth retardation.
Eur J Pediatr 161 (2002): 305-312

Eggermann, T., Wollmann, H.A., Zerres, K.
Maternale uniparentale Disomie 14. Ein weiteres Imprintingsyndrom..
Monatsschr Kinderheilkd 150 (2002): 856-865

von Gontard, A., Backes, M., Laufersweiler-Plass, C., Wendland, C., Lehmkuhl, G., Zerres, K., Rudnik-Schöneborn, S.
Psychopathology and familiar stress - comparison of boys with fragile X syndrome and spinal muscular atrophy.
Journal of Child Psychology and Psychiatry 43 (2002): 949-957

von Gontard, A., Zerres, K., Backes, M., Laufersweiler-Plass, C., Wendland, C., Melchers, P., Lehmkuhl, G., Rudnik-Schöneborn, S.
Intelligence and cognitive function in children and adolescents with spinal mscular atrophy.
Neuromucular Disorders 12 (2002): 130-136

Kalz-Füller, B., Raff, R., Eggermann, T., Schwanitz, G., Schubert, R.
Longitudinal study in a patient with trisomy 8 mosaicism: cytogenetic and molecular-genetic investigations over a period of eleven years.
Int J Hum Genet 2 (2) (2002): 101-106

Marvany, M., Wollmann, H.A., Pfäffle, R., Prager, S., Ranke, M.B., Eggermann, T.
Analysis of components of the growth hormone (GH) axis in (GH-deficient) patients with Silver-Russell-Syndrome..
The Journal of Endocrine Genetics 3 (2002): 21-25

Merlini, L., Estournet-Mathiaud, B., Iannaccone, S., Melki, J., Muntoni, F., Rudnik-Schöneborn, S., Topaloglu, H., Vita, G., Voit, T.
90th ENMC International Workshop: European spinal muscular atrophy randomised trial (EuroSMART). 9-10 February 2001, Naarden, The Netherlands.
Neuromuscular Disorders 12 (2002): 201-210

Onuchic, L.F., Furu, L., Nagasawa, Y., Hou, X., Eggermann, T., Ren, Z., Bergmann, C., Senderek, J., Esquivel, E., Zeltner, R., Rudnik-Schöneborn, S., Mrug, M., Sweeney, W., Avner, E.D., Zerres, K., Guay-Woodford, L.M., Somlo, S., Germino, G.G.
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta helix 1 repeats.
Am J Hum Genet 70 (2002): 1305-1317

Gutiérrez, P.P., Eggermann, T., Höller, D., Jugert, F.K., Beermann, T., Grußendorf-Conen, E.-I., Zerres, K., Merk, H.F., Frank, J.
Phenotype diversity in familial cylindromatosis: A frameshift in the tumor suppressor gene CYLD underlies different tumors of skin appendages.
J Invest Dermatol 119 (2002): 527-531

Rudnik-Schöneborn, S., Breuer, C., Zerres, K.
Stable motor and lung function throughout pregnancy in a patient with infantile spinal muscular atrophy type II.
Neuromuscular Disorders 12 (2002): 137-140

Schmidt, C., Albers, A., Tomuik, J., Eggermann, K., Wagner, C., Capasso, G., Lahme, S., Hesse, A., Lang, F., Zerres, K., Eggermann, T.
Analysis of the genes SLC7A9 and SLC3A1 in unclassified cystinurics: mutation detection rates and association between variants in SLC7A9 and the disease.
Clinical Nephrology 57 (5) (2002): 342-348

Schubert, R., Eggermann, T., Hofstaetter, C., von Netzer, B., Knöpfle, G., Schwanitz, G.
Clinical, cytogenetic, and molecular findings in 45,X/47,XX,+18 mosaicism: clinical report and review of the literature.
American Journal of Medical Genetics 110 (2002): 278-282

Schefels, J., Wenzl, T.G., Merz, U., Ramaekers, V., Holzki, J., Rudnik-Schöneborn, S., Hermanns, B., Hörnchen, H.
Functional upper airway obstruction in a child with Freeman-Sheldon Syndrome.
ORL 64 (2002): 53-56

Lahme, S., Bichler, K.-H., Eggermann, T., Lang, F.
Genomic and functional investigations of mutations of the SLC3A1 gene in cystinuria.
Urol Int 69 (2002): 207-211

Mavany, Wollmann, H.A., Eggermann, T.
Screening for mutations in the PHKG1 gene in Silver-Russell syndrome patients.
Ann Génét (45) (2002): 219-221

Albrecht, B., Mergenthaler, S., Eggermann, K., Zerres, K., Paasarge, E., Eggermann, T.
Uniparental isodisomy for paternal 2p and amternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q).
J Med Genet 38 (2001): 214-215

Bergmann, C., Schröder, J.M., Rudnik-Schöneborn, S., Zerres, K., Senderek, J.
A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany.
Molecular Brain Research 88 (2001): 183-185

Binder, G., Eggermann, T., Enders, H., Ranke, M.B., Dufke, A
Tall stature, gonadal dysgenesis, and stigmata of Turner's syndrome caused by a structurally altered X chromosome.
The Journal of Pediatrics 138 (2) (2001): 285-287

Borasio, D., Enders, A., Kreß, W., Metzner, R., Reiners, K., Rudnik-Schöneborn, S., Zerres, K.
Diagnostik spinaler Muskelatrophien. Bundeseinheitliche Konsensuspapiere der Muskelzentren im Auftrag der Deutschen Gesellschaft der Muskelkranke e.V. (DGM).
Nervenheilkunde 20 (2001): 113-118

Eggermann, T., Marg, W., Mergenthaler, S., Eggermann, K., Schemmel, V., Stoffers, U., Zerres, K., Spranger, S.
Origin of uniparental disomy 6: presentation of a new case and review on the literature.
Annáles de Génétique 44 (2001): 41-45

Eggermann, T., Mergenthaler, S., Eggermann, K., Ranke, MB, Wollmann, H.A.
Segmental uniparental disomy of 7q31-qter is rare in Silver-Russell syndrome.
Clin Genet 60 (2001): 395-396

Eggermann, T., Kloos, P., Mergenthaler, S., Eggermann, K., Dobos, M
IRS1 and GRB2 as membrers of the IGF signal transduction pathway are not associated with intrauterine growth retardation and Silver-Russell syndrome.
Clin Genet 59 (2001): 371-373

Gontard, von A., Laufersweiler-Plass, C., Backes, M., Zerres, K., Rudnik-Schöneborn, S.
Enuresis and urinary incontinence in children and adolescent with spinal muscular atrophy.
BJU International 88 (2001): 409-413

Grohmann, K., Schuelke, M., Diers, A., Hoffmann, K., Lucke, B., Adams, C., Bertini, E., Leonhardt-Horti, H., Muntoni, F., Ouvrier, R., Pfeufer, A., Rossi, R., Maldergem, van L., Wilmshurst, J.M., Wienker, T.F., Sendtner, M., Rudnik-Schöneborn, S., Zerres, K., Hübner, C.
Mutations in the gene encoding immunoglobulin µ-binding protein 2 cause spinal musccular atrophy with respiratory distress type 1.
Nature Genetics 29 (2001): 75 - 77

Mergenthaler, S., Sharp, A., Ranke, M.B., Kalscheuer, V.M., Wollmann, H.A., Eggermann, T.
Gene dosage analysis in Silver-Russell Syndrome: Use of quantitative competivite PCR and dual-color FISH to estimate the frequency of duplications in 7p11.2-p13.
Genetic Testing 5 (3) (2001): 261-266

Rudnik-Schöneborn, S., Hausmanowa-Petrusewicz, I, Borkowska, J., Zerres, K.
The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III.
Eur Neurol 45 (2001): 174-181

Mergenthaler, S., Wollmann, H., Eggermann, K., Dobos, M., Schwanitz, G., Eggermann, T.
A 7-es kromoszóma uniparentalis disomiája a Silver-Russell-syndroma kóreredetében. .
Klinikai-Genetikai Tanulmanyok, 142. évfolyam 29. szám (2001): 1561-1564

Senderek, J., Ramaekers, V.T., Zerres, K., Rudnik-Schöneborn, S., Schröder, J.M., Bergmann, C.
Phenotypic variation of a novel nonsense mutation in the p0 intracellular domain.
Journal of the Neurological Sciences 192 (2001): 49-51

Sharp, A., Moore, G., Eggermann, T.
Evidence from skewed X inactivation for trisomy mosaicism in Silver-russell syndrome.
Eur J Hum Gen 9 (2001): 887-891

Zerres, K., Rudnik-Schöneborn, S., Visser, de M., Tizzano, E., Poortman, Y.
Spinal muscular atrophy. Report of a Wanda workshop held on the occasion of the 4th Congress of the mediterranean society of myology in Capri, Italy.
Acta Myologica XX (2001): 61-68

Zerres, K., Eggermann, T., Rudnik-Schöneborn, S.
DNA diagnosis in hereditary nephropathies.
Clinical Nephrology 56 (3) (2001): 181-192

Zerres, K., Eggermann, T., Rudnik-Schöneborn, S.
Zystennieren.
Nieren- und Hochdruckkrankheiten 30 (6) (2001): 278-288

Albrecht, B., Eggermann, K., Mergenthaler, S., Zerres, K., Passarge, E., Eggermann, T.
Uniparental disomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes: i(2p) and i(2q).
J Med Genet. in press (2000)

Mergenthaler, S., Wollmann, H.A., Burger, B., Kaiser, P., Ranke, M.B., Schwanitz, G., Eggermann, K., Eggermann, T.
Formation of Uniparental Disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue .
Ann Génét 43 (2000): 15-21

Eggermann, K., Stötter, M., Dufke, A., Enders, H., Kaiser, P., Eggermann, T.
Rare case of de-novo interstitial deletion 2q13-q21: Clinical, cytogenetic and molecular studies. .
Am J Med Genet 92 (2000): 153-154

Eggermann, T., Bujdoso, G., Haug, T., Heidrich-Kaul, C., Fekete, G., Dobos, M., Schwanitz, G.
Studies on the origin of aberrations of chromosome 18 and their application for genetic counselling.
Orv Hetil 141(30) (2000): 1667-1671

Oner, G., Jauch, A., Eggermann, T., Hardwick, R., Kirsch, S., Schiebel, K., Rappold, G., Robson, L., Smith, A.
A mosaic rearrangement of chromosome 18: characterisation by FISH mapping and DNA studies reveals both trisomy 18p and monosomy 18p of paternal origin .
Am J Med Genet 92 (2000): 101-106

Mau, U., Petruch, U.R., Kaiser, P., Eggermann, T.
Familial Robertsonian translocation 15;21 and rare paracentric inv(21): unexpected reinversion in a child with translocation trisomy 21 .
Eur J Hum Genet . in press (2000)

Mergenthaler, S., Eggermann, K., Wollmann, H.A., Kaiser, P., Ranke, M.B., Eggermann, T.
Evidence against a major role of PAX4 in Silver-Russell syndrome .
J Med Genet. 37 (2000): 44

Binder, G., Eggermann, T., Enders, H., Ranke, M.B., Dufke, A.
Excessive growth, gonadal dysgenesis and stigmata of Turner syndrome due to a structurally altered X chromosome .
J Pediatr. in press (2000)

Blagitko, N., Mergenthaler, S., Wollmann, H.A., Schulz, U., Craigen, W., Ropers, H-H., Kalscheuer, V., Eggermann, T.:  Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion .
  2000

Bergmann, C., Senderek, J., Hermanns, B., Jauch, A., Janssen, B., Schröder, M.J., Karch, D.
Becker muscular dystrophy combined with X-linked Charcot-Marie-Tooth neuropathy..
Muscle & Nerve 23 (2000): 818-823

Mergenthaler, S., Blagitko-Dorfs, N., Wollmann, H.A., Ranke, M.B., Ropers, H-H., Kalscheuer, V.M., Eggermann, T.
Identification of two new polymorphisms (c2447-125AG; c2531GA) in the g 2-COP (COPG2) gene by screening of Silver-Russell syndrome patients. .
Hum Mutat 16 (2000): 96

Eggermann, T., Bujdosó, G., Haug, T., Heidrich-Kaul, C., Hofmann, D., Fekete, G., Dobos, M., Schwanitz, G.
A 18-as kromoszóma rendellenességeinek eredete és jelentösége a genetikai tanácsaban. .
Orvosi Hetilap 30, szam (2000): 1667-1671

Hallermann, C., Mücher, G., Kohlschmidt, N., Wellek, B., Schumacher, R., Bahlmann, F., Shahidi-Asl, P., Theile, U., Rudnik-Schöneborn, S., Müntefering, H., Zerres, K.
Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p. .
Am J Med Gen 90 (2000): 115-119

Helmken, C., Wetter, A., Rudnik-Schöneborn, S., Liehr, T., Zerres, K., Wirth, B.
An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal musccular atrophy (SMA). .
Eur J Hum Gen 8 (2000): 493-499

Kloos, P., Mergenthaler, S., Ranke, M.B., Wollmann, H.A., Eggermann, T.
Novel silent variant (c1722GA) in the coding region of the insulin receptor substrate 1 (IRS1) gene. .
Human Mutation 16 (6) (2000): 533

Kutsche, K., Glauner, E., Knauf, S., Pomarino, A., Schmidt, M., Schröder, B., Nothwang, H.G., Schüler, H.M., Goecke, T.O., Kersten, A.J., Althaus, C., Gal, A.
Cloning and characterization of the breakpoint regions of a chromosome 11;18 translocation in a patient with hamartoma of the retinal pigment epithelium. .
Cytogenet Cell Genet 91 (2000): 141-147

Mergenthaler, S., Eggermann, K., Tomiuk, J, Ranke, MB, Wollmann, HA, Eggermann, T.
Exclusion of a disease relevant role of PAX4 in the aetiology of Silver-Russell syndrome: screening for mutations and determination of imprinting status.
J. Med. Genet. 37 (2000): Electronic letter

Rudnik-Schöneborn, S., Wirth, B, Grimm, T, Zerres, K.:  Spinale Muskelatrophien.
In: D. Ganten, K. Ruckpaul (Hg.): Handbuch der Molekularen Medizin. Monogenbedingte Erbkrankheiten. 1. Bd. 6.
Berlin, Heidelberg: Springer Verlag 2000

Senderek, J., Hermanns, B, Lehmann, U, Bergmann, C., Marx, G, Kabus, Ch, Timmerman, V., Stoltenburg-Didinger, G, Schröder, JM
Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino substitutions (Asp61Gly; Tyr119CYS) and a possible "hotspot" on Thr124Met .
Brain Pathology 10 (2000): 235-248

Zerres, K., Rudnik-Schöneborn, S.:  Polyzystische Nierenerkrankung.
In: D. Ganten / K. Ruckpaul (Hg.): Handbuch der Molekularen Medizin. Monogen bedingte Erbkrankheiten, Teil 2. Bd. 7.
Berlin, Heidelberg: Springer-Verlag 2000. S. 281-293

Grohmann, K., Wienker, T.F., Saar, K., Rudnik-Schöneborn, S., Stoltenburg-Didinger, G., Rossi, R., Novelli, G., Nurnberg, G., Pfeufer, A., Wirth, B., Reis, A., Zerres, K., Hübner, C.
Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form is linked to chromosome 11q13-q21..
Am J Hum Genet 65(5) (1999): 1459-62

Wirth, B., Herz, M., Wetter, A., Moskau, S., Hahnen, E., Rudnik-Schöneborn, S., Wienker, T., Zerres, K.
Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.
Am J Hum Genet 64(5) (1999): 1340-1356

Pfeiffer, R., Loffing, J., Rossier, G., Bauch, C., Meier, C., Eggermann, T., Loffing-Cueni, D., Kühn, L.C., Verrey, V.
Luminal heterodimeric amino acid transporter defective in cystinuria..
Mol Biol Chem 10 (1999): 4135-4147

Haverkamp, F., Wolfle, J., Zerres, K., Butenandt, O., Amendt, P., Hauffa, B.P., Weimann, E., Bettendorf, M., Keller, E., Muhlenberg, R., Partsch, C.J., Sippell, W.G., Hoppe, C.
Growth retardation in Turner syndrome: aneuploidy, rather than specific gene loss, may explain growth Failure..
J Clin Endocrinol Metab 84(12) (1999): 4578-82

Park, J.H., Dixit, M.P., Onuchic, L.F., Wu, G., Goncharuk, A.N., Kneitz, S., Santarina, L.B., Hayashi, T., Avner, E.D., Guay-Woodford, L., Zerres, K., Germino, G.G., Somlo, S.
A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) Region on chromosome 6..
Genomics 57(2) (1999): 249-155

Zerres, K., Davies, K.E.
59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands..
Neuromuscul Disord. 9(4) (1999): 272-278

Onuchic, L.F., Mrug, M., Lakings, A.L., Muecher, G., Becker, J., Zerres, K., Avner, E.D., Dixit, M., Somlo, S., Germino, G.G., Guay-Woodford, L.M.
Genomic organization of the KIAA0057 gene that encodes a TRAM-like protein and its exclusion as a polycystic kidney and hepatic disease 1 (PKHD1) candidate gene.
Mamm Genome. 10(12) (1999): 1175-1178

Neumann, H.P., Krumme, B., van Velthoven, V., Orszagh, M., Zerres, K.
Multiple intracranial aneurysms in a patient with autosomal recessive polycystic kidney disease..
Nephrol Dial Transplant 14(4) (1999): 936-939

Wollmann, H.A., Eggermann, K., Ranke, M.B., Kaiser, P., Eggermann, T.
Screening for mutations in the promotor and the coding region of the IGFBP1 and IGFBP3 genes in Silver Russel syndrome patiens..
Hum Hered 49 (1999): 123-128

Eggermann, T., Mau, U., Wolf, M., Spaich, C., Uyanik, G., Wolff, G., Eggermann, K., Mau, U., Kaiser P
Search for uniparental disomy 14 in balanced Robertsonian translocation carriers..
Clin Genet 56 (1999): 464-465

Haverkamp, F., Wolfle, J., Aretz, M., Kramer, A., Hohmann, B., Fahnenstich, H., Zerres, K.
Congenital hydrocephalus internus and aqueduct stenosis: aetiology and implications for genetic counselling.
Eur J Pediatr 158(6) (1999): 474-478

Eggermann, T., Schubert, R., Engels, H., Apacik, C., Stengel-Rutkowski, S., Haefliger, C., Emiliani, V., Ricagni, C., Schwanitz, G.
Formation of supernumerary euchromatic short arm isochromosomes: parent and cell stage of origin in new cases and review on the literature..
Ann Génét 42 (1999): 75-80

Eggermann, K., Wollmann, H.A., Binder, G., Kaiser, P., Ranke, M.B., Eggermann, T.
No evidence for a role of IGFBP1 and IGFBP3 in the etiology of Silver-Russel syndrome..
Ann Génét 42 (1999): 117-121

Zerres, K., Rudnik-Schöneborn, S.
Genetically-induced kidney diseases.
Internist (Berl). 40(5) (1999): 534-42

Albers, A., Lahme, S., Waldegger, S., Kaiser Patient, Zerres, K., Capasso, G., Pica, A., Lang, F., Eggermann, T.
Mutations in the SLC3A1 gene in unselected cystinurie patients. .
Genetic Testing. 3 (1999): 227-232