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Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, Brown CW, Rosenfeld JA, Rednam S, Scollon S, Bergstrom KL, Parsons DW, Plon SE, Vieira MW, Quaio CRDC, Baratela WAR, Acosta Guio JC, Armstrong R, Mehta SG, Rump P, Pfundt R, Lewandowski R, Fernandes EM, Shinde DN, Tang S, Hoyer J, Zweier C, Reis A, Bacino CA, Xiao R, Breman AM, Smith JL; Deciphering Developmental Disorders Study; Katsanis N, Bostwick B, Popp B, Davis EE, Yang Y. Stankiewicz P, et al. Among authors: brown cw. Am J Hum Genet. 2017 Oct 5;101(4):503-515. doi: 10.1016/j.ajhg.2017.08.014. Epub 2017 Sep 21. Am J Hum Genet. 2017. PMID: 28942966 Free PMC article.
Unmapped exome reads implicate a role for Anelloviridae in childhood HIV-1 long-term non-progression.
Mwesigwa S, Williams L, Retshabile G, Katagirya E, Mboowa G, Mlotshwa B, Kyobe S, Kateete DP, Wampande EM, Wayengera M, Mpoloka SW, Mirembe AN, Kasvosve I, Morapedi K, Kisitu GP, Kekitiinwa AR, Anabwani G, Joloba ML, Matovu E, Mulindwa J, Noyes H, Botha G; Collaborative African Genomics Network (CAfGEN); TrypanoGEN Research Group; Brown CW, Mardon G, Matshaba M, Hanchard NA. Mwesigwa S, et al. Among authors: brown cw. NPJ Genom Med. 2021 Mar 19;6(1):24. doi: 10.1038/s41525-021-00185-w. NPJ Genom Med. 2021. PMID: 33741997 Free PMC article.
230 results