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Mapping recurrent mosaic copy number variation in human neurons.
Sun C, Kathuria K, Emery SB, Kim B, Burbulis IE, Shin JH; Brain Somatic Mosaicism Network; Weinberger DR, Moran JV, Kidd JM, Mills RE, McConnell MJ. Sun C, et al. Nat Commun. 2024 May 17;15(1):4220. doi: 10.1038/s41467-024-48392-0. Nat Commun. 2024. PMID: 38760338 Free PMC article.
Transgenerational transmission of post-zygotic mutations suggests symmetric contribution of first two blastomeres to human germline.
Jang Y, Tomasini L, Bae T, Szekely A, Vaccarino FM, Abyzov A. Jang Y, et al. Among authors: abyzov a. bioRxiv [Preprint]. 2024 Jun 22:2024.06.18.599438. doi: 10.1101/2024.06.18.599438. bioRxiv. 2024. Update in: Nat Commun. 2024 Oct 23;15(1):9117. doi: 10.1038/s41467-024-53485-x PMID: 38948757 Free PMC article. Updated. Preprint.
Control-independent mosaic single nucleotide variant detection with DeepMosaic.
Yang X, Xu X, Breuss MW, Antaki D, Ball LL, Chung C, Shen J, Li C, George RD, Wang Y, Bae T, Cheng Y, Abyzov A, Wei L, Alexandrov LB, Sebat JL; NIMH Brain Somatic Mosaicism Network; Gleeson JG. Yang X, et al. Among authors: abyzov a. Nat Biotechnol. 2023 Jun;41(6):870-877. doi: 10.1038/s41587-022-01559-w. Epub 2023 Jan 2. Nat Biotechnol. 2023. PMID: 36593400 Free PMC article.
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development.
Chung C, Yang X, Bae T, Vong KI, Mittal S, Donkels C, Westley Phillips H, Li Z, Marsh APL, Breuss MW, Ball LL, Garcia CAB, George RD, Gu J, Xu M, Barrows C, James KN, Stanley V, Nidhiry AS, Khoury S, Howe G, Riley E, Xu X, Copeland B, Wang Y, Kim SH, Kang HC, Schulze-Bonhage A, Haas CA, Urbach H, Prinz M, Limbrick DD Jr, Gurnett CA, Smyth MD, Sattar S, Nespeca M, Gonda DD, Imai K, Takahashi Y, Chen HH, Tsai JW, Conti V, Guerrini R, Devinsky O, Silva WA Jr, Machado HR, Mathern GW, Abyzov A, Baldassari S, Baulac S; Focal Cortical Dysplasia Neurogenetics Consortium; Brain Somatic Mosaicism Network; Gleeson JG. Chung C, et al. Among authors: abyzov a. Nat Genet. 2023 Feb;55(2):209-220. doi: 10.1038/s41588-022-01276-9. Epub 2023 Jan 12. Nat Genet. 2023. PMID: 36635388 Free PMC article.
150 results