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2020 1
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2023 3
2024 1

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17 results

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Page 1
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. 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.
Hidden protein-altering variants influence diverse human phenotypes.
Hujoel MLA, Handsaker RE, Sherman MA, Kamitaki N, Barton AR, Mukamel RE, Terao C, McCarroll SA, Loh PR. Hujoel MLA, et al. bioRxiv [Preprint]. 2023 Jun 9:2023.06.07.544066. doi: 10.1101/2023.06.07.544066. bioRxiv. 2023. PMID: 37333244 Free PMC article. Updated. Preprint.
Developmental dynamics of RNA translation in the human brain.
Duffy EE, Finander B, Choi G, Carter AC, Pritisanac I, Alam A, Luria V, Karger A, Phu W, Sherman MA, Assad EG, Pajarillo N, Khitun A, Crouch EE, Ganesh S, Chen J, Berger B, Sestan N, O'Donnell-Luria A, Huang EJ, Griffith EC, Forman-Kay JD, Moses AM, Kalish BT, Greenberg ME. Duffy EE, et al. Nat Neurosci. 2022 Oct;25(10):1353-1365. doi: 10.1038/s41593-022-01164-9. Epub 2022 Sep 28. Nat Neurosci. 2022. PMID: 36171426 Free PMC article.
Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability.
Bae T, Fasching L, Wang Y, Shin JH, Suvakov M, Jang Y, Norton S, Dias C, Mariani J, Jourdon A, Wu F, Panda A, Pattni R, Chahine Y, Yeh R, Roberts RC, Huttner A, Kleinman JE, Hyde TM, Straub RE, Walsh CA; Brain Somatic Mosaicism Network§; Urban AE, Leckman JF, Weinberger DR, Vaccarino FM, Abyzov A. Bae T, et al. Science. 2022 Jul 29;377(6605):511-517. doi: 10.1126/science.abm6222. Epub 2022 Jul 28. Science. 2022. PMID: 35901164 Free PMC article.
17 results