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Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Nil Z, Deshwar AR, Huang Y, Barish S, Zhang X, Choufani S, Le Quesne Stabej P, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, Vøllo A, Haynes D, Wheeler PG, Zon J, Cytrynbaum C, Jobling R, Blyth M, Banka S, Afenjar A, Mignot C, Robin-Renaldo F, Keren B, Kanca O, Mao X, Wegner DJ, Sisco K, Shinawi M; Undiagnosed Disease Network; Wangler MF, Weksberg R, Yamamoto S, Costain G, Bellen HJ. Nil Z, et al. Among authors: cytrynbaum c. Am J Hum Genet. 2023 Nov 2;110(11):1919-1937. doi: 10.1016/j.ajhg.2023.09.009. Epub 2023 Oct 11. Am J Hum Genet. 2023. PMID: 37827158 Free PMC article.
Parents' perspectives on participating in genetic research in autism.
Trottier M, Roberts W, Drmic I, Scherer SW, Weksberg R, Cytrynbaum C, Chitayat D, Shuman C, Miller FA. Trottier M, et al. Among authors: cytrynbaum c. J Autism Dev Disord. 2013 Mar;43(3):556-68. doi: 10.1007/s10803-012-1592-y. J Autism Dev Disord. 2013. PMID: 22782649
The health risks of ART.
Grafodatskaya D, Cytrynbaum C, Weksberg R. Grafodatskaya D, et al. Among authors: cytrynbaum c. EMBO Rep. 2013 Feb;14(2):129-35. doi: 10.1038/embor.2012.222. Epub 2013 Jan 22. EMBO Rep. 2013. PMID: 23337626 Free PMC article. No abstract available.
Practical guidelines for managing adults with 22q11.2 deletion syndrome.
Fung WL, Butcher NJ, Costain G, Andrade DM, Boot E, Chow EW, Chung B, Cytrynbaum C, Faghfoury H, Fishman L, García-Miñaúr S, George S, Lang AE, Repetto G, Shugar A, Silversides C, Swillen A, van Amelsvoort T, McDonald-McGinn DM, Bassett AS. Fung WL, et al. Among authors: cytrynbaum c. Genet Med. 2015 Aug;17(8):599-609. doi: 10.1038/gim.2014.175. Epub 2015 Jan 8. Genet Med. 2015. PMID: 25569435 Free PMC article. Review.
57 results