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De novo mutations in the genome organizer CTCF cause intellectual disability.
Gregor A, Oti M, Kouwenhoven EN, Hoyer J, Sticht H, Ekici AB, Kjaergaard S, Rauch A, Stunnenberg HG, Uebe S, Vasileiou G, Reis A, Zhou H, Zweier C. Gregor A, et al. Among authors: zweier c. Am J Hum Genet. 2013 Jul 11;93(1):124-31. doi: 10.1016/j.ajhg.2013.05.007. Epub 2013 Jun 6. Am J Hum Genet. 2013. PMID: 23746550 Free PMC article.
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S; Undiagnosed Diseases Network, Care4Rare Canada Consortium; Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg D, Am… See abstract for full author list ➔ Castilla-Vallmanya L, et al. Among authors: zweier c. Genet Med. 2020 Jul;22(7):1215-1226. doi: 10.1038/s41436-020-0792-7. Epub 2020 May 7. Genet Med. 2020. PMID: 32376980 Free PMC article.
Skeletal abnormalities are common features in Aymé-Gripp syndrome.
Niceta M, Barbuti D, Gupta N, Ruggiero C, Tizzano EF, Graul-Neumann L, Barresi S, Nishimura G, Valenzuela I, López-Grondona F, Fernandez-Alvarez P, Leoni C, Zweier C, Tzschach A, Stellacci E, Del Fattore A, Dallapiccola B, Zampino G, Tartaglia M. Niceta M, et al. Among authors: zweier c. Clin Genet. 2020 Feb;97(2):362-369. doi: 10.1111/cge.13651. Epub 2019 Nov 3. Clin Genet. 2020. PMID: 31600839
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.
Polla DL, Bhoj EJ, Verheij JBGM, Wassink-Ruiter JSK, Reis A, Deshpande C, Gregor A, Hill-Karfe K, Silfhout ATV, Pfundt R, Bongers EMHF, Hakonarson H, Berland S, Gradek G, Banka S, Chandler K, Gompertz L, Huffels SC, Stumpel CTRM, Wennekes R, Stegmann APA, Reardon W, Leenders EKSM, de Vries BBA, Li D, Zackai E, Ragge N, Lynch SA, Cuddapah S, van Bokhoven H, Zweier C, de Brouwer APM. Polla DL, et al. Among authors: zweier c. Genet Med. 2021 Apr;23(4):645-652. doi: 10.1038/s41436-020-01040-6. Epub 2020 Nov 27. Genet Med. 2021. PMID: 33244165 Free article.
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study; Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. Snijders Blok L, et al. Among authors: zweier c. Nat Commun. 2019 May 2;10(1):2079. doi: 10.1038/s41467-019-10161-9. Nat Commun. 2019. PMID: 31048695 Free PMC article.
Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.
Vandewalle J, Van Esch H, Govaerts K, Verbeeck J, Zweier C, Madrigal I, Mila M, Pijkels E, Fernandez I, Kohlhase J, Spaich C, Rauch A, Fryns JP, Marynen P, Froyen G. Vandewalle J, et al. Among authors: zweier c. Am J Hum Genet. 2009 Dec;85(6):809-22. doi: 10.1016/j.ajhg.2009.10.019. Am J Hum Genet. 2009. PMID: 20004760 Free PMC article.
163 results