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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Geneviève D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA; Undiagnosed Diseases Network,; Eichler EE, Vincent JB; University of Washington Center for Mendelian Genomics (UW-CMG),; Bamshad MJ. Mirzaa GM, et al. Among authors: reis a. Genet Med. 2020 Mar;22(3):538-546. doi: 10.1038/s41436-019-0693-9. Epub 2019 Nov 14. Genet Med. 2020. PMID: 31723249 Free PMC article.
Molecular karyotyping using an SNP array for genomewide genotyping.
Rauch A, Rüschendorf F, Huang J, Trautmann U, Becker C, Thiel C, Jones KW, Reis A, Nürnberg P. Rauch A, et al. Among authors: reis a. J Med Genet. 2004 Dec;41(12):916-22. doi: 10.1136/jmg.2004.022855. J Med Genet. 2004. PMID: 15591277 Free PMC article.
Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1.
Hüffmeier U, Lascorz J, Becker T, Schürmeier-Horst F, Magener A, Ekici AB, Endele S, Thiel CT, Thoma-Uszynski S, Mössner R, Reich K, Kurrat W, Wienker TF, Traupe H, Reis A. Hüffmeier U, et al. Among authors: reis a. J Med Genet. 2009 Nov;46(11):736-44. doi: 10.1136/jmg.2008.065029. Epub 2009 Jun 11. J Med Genet. 2009. PMID: 19525279 Free PMC article.
Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum.
Ekici AB, Hilfinger D, Jatzwauk M, Thiel CT, Wenzel D, Lorenz I, Boltshauser E, Goecke TW, Staatz G, Morris-Rosendahl DJ, Sticht H, Hehr U, Reis A, Rauch A. Ekici AB, et al. Among authors: reis a. Mol Syndromol. 2010 Sep;1(3):99-112. doi: 10.1159/000319859. Epub 2010 Sep 14. Mol Syndromol. 2010. PMID: 21031079 Free PMC article.
NEK1 mutations cause short-rib polydactyly syndrome type majewski.
Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, von der Haar S, Zenker M, Zahnleiter D, Stöss H, Beinder E, Abou Jamra R, Ekici AB, Schröder-Kress N, Aigner T, Kirchner T, Reis A, Brandstätter JH, Rauch A. Thiel C, et al. Among authors: reis a. Am J Hum Genet. 2011 Jan 7;88(1):106-14. doi: 10.1016/j.ajhg.2010.12.004. Am J Hum Genet. 2011. PMID: 21211617 Free PMC article.
3,288 results