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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: billie au py. Brain. 2023 Apr 19;146(4):1373-1387. doi: 10.1093/brain/awac364. Brain. 2023. PMID: 36200388 Free PMC article.
Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia.
Maroilley T, Wright NAM, Diao C, MacLaren L, Pfeffer G, Sarna JR, Billie Au PY, Tarailo-Graovac M. Maroilley T, et al. Among authors: billie au py. Front Genet. 2022 Jan 25;13:815210. doi: 10.3389/fgene.2022.815210. eCollection 2022. Front Genet. 2022. PMID: 35145552 Free PMC article.