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Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
AlAbdi L, Desbois M, Rusnac DV, Sulaiman RA, Rosenfeld JA, Lalani S, Murdock DR, Burrage LC; Undiagnosed Diseases Network; Billie Au PY, Towner S, Wilson WG, Wong L, Brunet T, Strobl-Wildemann G, Burton JE, Hoganson G, McWalter K, Begtrup A, Zarate YA, Christensen EL, Opperman KJ, Giles AC, Helaby R, Kania A, Zheng N, Grill B, Alkuraya FS. AlAbdi L, et al. Among authors: kania a. Brain. 2023 Apr 19;146(4):1373-1387. doi: 10.1093/brain/awac364. Brain. 2023. PMID: 36200388 Free PMC article.
G-protein coupled receptor BAI3 promotes myoblast fusion in vertebrates.
Hamoud N, Tran V, Croteau LP, Kania A, Côté JF. Hamoud N, et al. Among authors: kania a. Proc Natl Acad Sci U S A. 2014 Mar 11;111(10):3745-50. doi: 10.1073/pnas.1313886111. Epub 2014 Feb 24. Proc Natl Acad Sci U S A. 2014. PMID: 24567399 Free PMC article.
Phox2a Defines a Developmental Origin of the Anterolateral System in Mice and Humans.
Roome RB, Bourojeni FB, Mona B, Rastegar-Pouyani S, Blain R, Dumouchel A, Salesse C, Thompson WS, Brookbank M, Gitton Y, Tessarollo L, Goulding M, Johnson JE, Kmita M, Chédotal A, Kania A. Roome RB, et al. Among authors: kania a. Cell Rep. 2020 Nov 24;33(8):108425. doi: 10.1016/j.celrep.2020.108425. Cell Rep. 2020. PMID: 33238113 Free PMC article.
234 results