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Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.
Merico D, Pasternak Y, Zarrei M, Higginbotham EJ, Thiruvahindrapuram B, Scott O, Willett-Pachul J, Grunebaum E, Upton J, Atkinson A, Kim VHD, Aliyev E, Fakhro K, Scherer SW, Roifman CM. Merico D, et al. Among authors: aliyev e. NPJ Genom Med. 2021 Nov 18;6(1):96. doi: 10.1038/s41525-021-00263-z. NPJ Genom Med. 2021. PMID: 34795304 Free PMC article.
An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates.
Mc Cartney AM, Mahmoud M, Jochum M, Agustinho DP, Zorman B, Al Khleifat A, Dabbaghie F, K Kesharwani R, Smolka M, Dawood M, Albin D, Aliyev E, Almabrazi H, Arslan A, Balaji A, Behera S, Billingsley K, L Cameron D, Daw J, T Dawson E, De Coster W, Du H, Dunn C, Esteban R, Jolly A, Kalra D, Liao C, Liu Y, Lu TY, M Havrilla J, M Khayat M, Marin M, Monlong J, Price S, Rafael Gener A, Ren J, Sagayaradj S, Sapoval N, Sinner C, C Soto D, Soylev A, Subramaniyan A, Syed N, Tadimeti N, Tater P, Vats P, Vaughn J, Walker K, Wang G, Zeng Q, Zhang S, Zhao T, Kille B, Biederstedt E, Chaisson M, English A, Kronenberg Z, J Treangen T, Hefferon T, Chin CS, Busby B, J Sedlazeck F. Mc Cartney AM, et al. Among authors: aliyev e. F1000Res. 2021 Mar 26;10:246. doi: 10.12688/f1000research.51477.2. eCollection 2021. F1000Res. 2021. PMID: 34621504 Free PMC article.
57 results