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Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.
AlMail A, Jamjoom A, Pan A, Feng MY, Chau V, D'Gama AM, Howell K, Liang NSY, McTague A, Poduri A, Wiltrout K; IPCHiP Executive Committee; Bassett AS, Christodoulou J, Dupuis L, Gill P, Levy T, Siper P, Stark Z, Vorstman JAS, Diskin C, Jewitt N, Baribeau D, Costain G. AlMail A, et al. Among authors: bassett as. NPJ Genom Med. 2024 Apr 6;9(1):27. doi: 10.1038/s41525-024-00408-w. NPJ Genom Med. 2024. PMID: 38582909 Free PMC article.
Functional outcomes of adults with 22q11.2 deletion syndrome.
Butcher NJ, Chow EW, Costain G, Karas D, Ho A, Bassett AS. Butcher NJ, et al. Among authors: bassett as. Genet Med. 2012 Oct;14(10):836-43. doi: 10.1038/gim.2012.66. Epub 2012 Jun 28. Genet Med. 2012. PMID: 22744446 Free PMC article.
270 results