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MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, Kerkhof J, McConkey H, Shvedunova M, Petersen AK, Magnussen K, Zweier C, Vasileiou G, Reis A, Savatt JM, Mulligan MR, Bicknell LS, Poke G, Abu-El-Haija A, Duis J, Hannig V, Srivastava S, Barkoudah E, Hauser NS, van den Born M, Hamiel U, Henig N, Baris Feldman H, McKee S, Krapels IPC, Lei Y, Todorova A, Yordanova R, Atemin S, Rogac M, McConnell V, Chassevent A, Barañano KW, Shashi V, Sullivan JA, Peron A, Iascone M, Canevini MP, Friedman J, Reyes IA, Kierstein J, Shen JJ, Ahmed FN, Mao X, Almoguera B, Blanco-Kelly F, Platzer K, Treu AB, Quilichini J, Bourgois A, Chatron N, Januel L, Rougeot C, Carere DA, Monaghan KG, Rousseau J, Myers KA, Sadikovic B, Akhtar A, Campeau PM. Karayol R, et al. Among authors: shen jj. Am J Hum Genet. 2024 May 28:S0002-9297(24)00164-2. doi: 10.1016/j.ajhg.2024.05.001. Online ahead of print. Am J Hum Genet. 2024. PMID: 38815585
Cross-ancestry genome-wide association studies of brain imaging phenotypes.
Fu J, Zhang Q, Wang J, Wang M, Zhang B, Zhu W, Qiu S, Geng Z, Cui G, Yu Y, Liao W, Zhang H, Gao B, Xu X, Han T, Yao Z, Qin W, Liu F, Liang M, Wang S, Xu Q, Xu J, Zhang P, Li W, Shi D, Wang C, Lui S, Yan Z, Chen F, Zhang J, Li J, Shen W, Miao Y, Wang D, Xian J, Gao JH, Zhang X, Xu K, Zuo XN, Zhang L, Ye Z, Cheng J, Li MJ, Yu C; CHIMGEN Consortium. Fu J, et al. Nat Genet. 2024 May 29. doi: 10.1038/s41588-024-01766-y. Online ahead of print. Nat Genet. 2024. PMID: 38811844
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