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Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk.
Shin T, Song JHT, Kosicki M, Kenny C, Beck SG, Kelley L, Qian X, Bonacina J, Papandile F, Antony I, Gonzalez D, Scotellaro J, Bushinsky EM, Andersen RE, Maury E, Pennacchio LA, Doan RN, Walsh CA. Shin T, et al. Among authors: walsh ca. medRxiv [Preprint]. 2023 Sep 22:2023.09.19.23295780. doi: 10.1101/2023.09.19.23295780. medRxiv. 2023. PMID: 37790480 Free PMC article. Preprint.
Neurosurgery elucidates somatic mutations.
Maury EA, Walsh CA, Kahle KT. Maury EA, et al. Among authors: walsh ca. Science. 2023 Dec 22;382(6677):1360-1362. doi: 10.1126/science.adj2244. Epub 2023 Dec 21. Science. 2023. PMID: 38127765
Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions.
Maury EA, Sherman MA, Genovese G, Gilgenast TG, Kamath T, Burris SJ, Rajarajan P, Flaherty E, Akbarian S, Chess A, McCarroll SA, Loh PR, Phillips-Cremins JE, Brennand KJ, Macosko EZ, Walters JTR, O'Donovan M, Sullivan P; Psychiatric Genomic Consortium Schizophrenia and CNV workgroup; Brain Somatic Mosaicism Network; Sebat J, Lee EA, Walsh CA. Maury EA, et al. Among authors: walsh ca. Cell Genom. 2023 Jul 6;3(8):100356. doi: 10.1016/j.xgen.2023.100356. eCollection 2023 Aug 9. Cell Genom. 2023. PMID: 37601975 Free PMC article.
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. 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.
An evolutionary perspective on complex neuropsychiatric disease.
McClellan JM, Zoghbi AW, Buxbaum JD, Cappi C, Crowley JJ, Flint J, Grice DE, Gulsuner S, Iyegbe C, Jain S, Kuo PH, Lattig MC, Passos-Bueno MR, Purushottam M, Stein DJ, Sunshine AB, Susser ES, Walsh CA, Wootton O, King MC. McClellan JM, et al. Among authors: walsh ca. Neuron. 2024 Jan 3;112(1):7-24. doi: 10.1016/j.neuron.2023.10.037. Epub 2023 Nov 27. Neuron. 2024. PMID: 38016473 Review.
Contrasting somatic mutation patterns in aging human neurons and oligodendrocytes.
Ganz J, Luquette LJ, Bizzotto S, Miller MB, Zhou Z, Bohrson CL, Jin H, Tran AV, Viswanadham VV, McDonough G, Brown K, Chahine Y, Chhouk B, Galor A, Park PJ, Walsh CA. Ganz J, et al. Among authors: walsh ca. Cell. 2024 Apr 11;187(8):1955-1970.e23. doi: 10.1016/j.cell.2024.02.025. Epub 2024 Mar 18. Cell. 2024. PMID: 38503282 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. 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.
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.
636 results