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Page 1
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. Elsner J, et al. Among authors: vater i. Hum Genet. 2021 Aug;140(8):1229-1239. doi: 10.1007/s00439-021-02295-y. Epub 2021 Jun 22. Hum Genet. 2021. PMID: 34159400 Free PMC article.
Frequency and characterization of DNA methylation defects in children born SGA.
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. Bens S, et al. Among authors: vater i. Eur J Hum Genet. 2013 Aug;21(8):838-43. doi: 10.1038/ejhg.2012.262. Epub 2012 Dec 12. Eur J Hum Genet. 2013. PMID: 23232699 Free PMC article.
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium; Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics; Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA. Kaiser FJ, et al. Among authors: vater i. Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8. Hum Mol Genet. 2014. PMID: 24403048 Free PMC article.
A familial disorder of altered DNA-methylation.
Caliebe A, Richter J, Ammerpohl O, Kanber D, Beygo J, Bens S, Haake A, Jüttner E, Korn B, Mackay DJ, Martin-Subero JI, Nagel I, Sebire NJ, Seidmann L, Vater I, von Kaisenberg CS, Temple IK, Horsthemke B, Buiting K, Siebert R. Caliebe A, et al. Among authors: vater i. J Med Genet. 2014 Jun;51(6):407-12. doi: 10.1136/jmedgenet-2013-102149. Epub 2014 Apr 10. J Med Genet. 2014. PMID: 24721835
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
Audain E, Wilsdon A, Breckpot J, Izarzugaza JMG, Fitzgerald TW, Kahlert AK, Sifrim A, Wünnemann F, Perez-Riverol Y, Abdul-Khaliq H, Bak M, Bassett AS, Benson DW, Berger F, Daehnert I, Devriendt K, Dittrich S, Daubeney PE, Garg V, Hackmann K, Hoff K, Hofmann P, Dombrowsky G, Pickardt T, Bauer U, Keavney BD, Klaassen S, Kramer HH, Marshall CR, Milewicz DM, Lemaire S, Coselli JS, Mitchell ME, Tomita-Mitchell A, Prakash SK, Stamm K, Stewart AFR, Silversides CK, Siebert R, Stiller B, Rosenfeld JA, Vater I, Postma AV, Caliebe A, Brook JD, Andelfinger G, Hurles ME, Thienpont B, Larsen LA, Hitz MP. Audain E, et al. Among authors: vater i. PLoS Genet. 2021 Jul 29;17(7):e1009679. doi: 10.1371/journal.pgen.1009679. eCollection 2021 Jul. PLoS Genet. 2021. PMID: 34324492 Free PMC article.
Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.
Schneppenheim R, Frühwald MC, Gesk S, Hasselblatt M, Jeibmann A, Kordes U, Kreuz M, Leuschner I, Martin Subero JI, Obser T, Oyen F, Vater I, Siebert R. Schneppenheim R, et al. Among authors: vater i. Am J Hum Genet. 2010 Feb 12;86(2):279-84. doi: 10.1016/j.ajhg.2010.01.013. Epub 2010 Feb 4. Am J Hum Genet. 2010. PMID: 20137775 Free PMC article.
New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).
Domingo A, Westenberger A, Lee LV, Brænne I, Liu T, Vater I, Rosales R, Jamora RD, Pasco PM, Cutiongco-Dela Paz EM, Freimann K, Schmidt TG, Dressler D, Kaiser FJ, Bertram L, Erdmann J, Lohmann K, Klein C. Domingo A, et al. Among authors: vater i. Eur J Hum Genet. 2015 Oct;23(10):1334-40. doi: 10.1038/ejhg.2014.292. Epub 2015 Jan 21. Eur J Hum Genet. 2015. PMID: 25604858 Free PMC article.
57 results