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2017 2
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Page 1
Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations.
Zhou Z, Kim J, Huang AY, Nolan M, Park J, Doan R, Shin T, Miller MB, Chhouk B, Morillo K, Yeh RC, Kenny C, Neil JE, Lee CZ, Ohkubo T, Ravits J, Ansorge O, Ostrow LW, Lagier-Tourenne C, Lee EA, Walsh CA. Zhou Z, et al. bioRxiv [Preprint]. 2023 Dec 1:2023.11.30.569436. doi: 10.1101/2023.11.30.569436. bioRxiv. 2023. PMID: 38077003 Free PMC article. Preprint.
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.
Somatic genomic changes in single Alzheimer's disease neurons.
Miller MB, Huang AY, Kim J, Zhou Z, Kirkham SL, Maury EA, Ziegenfuss JS, Reed HC, Neil JE, Rento L, Ryu SC, Ma CC, Luquette LJ, Ames HM, Oakley DH, Frosch MP, Hyman BT, Lodato MA, Lee EA, Walsh CA. Miller MB, et al. Nature. 2022 Apr;604(7907):714-722. doi: 10.1038/s41586-022-04640-1. Epub 2022 Apr 20. Nature. 2022. PMID: 35444284 Free PMC article.
Rates and Patterns of Clonal Oncogenic Mutations in the Normal Human Brain.
Ganz J, Maury EA, Becerra B, Bizzotto S, Doan RN, Kenny CJ, Shin T, Kim J, Zhou Z, Ligon KL, Lee EA, Walsh CA. Ganz J, et al. Cancer Discov. 2022 Jan;12(1):172-185. doi: 10.1158/2159-8290.CD-21-0245. Epub 2021 Aug 13. Cancer Discov. 2022. PMID: 34389641 Free PMC article.
Novel Alzheimer's disease risk variants identified based on whole-genome sequencing of APOE ε4 carriers.
Park JH, Park I, Youm EM, Lee S, Park JH, Lee J, Lee DY, Byun MS, Lee JH, Yi D, Chung SJ, Park KW, Choi N, Kim SY, Yoon W, An H, Kim KW, Choi SH, Jeong JH, Kim EJ, Kang H, Lee J, Kim Y, Lee EA, Seo SW, Na DL, Kim JW. Park JH, et al. Transl Psychiatry. 2021 May 19;11(1):296. doi: 10.1038/s41398-021-01412-9. Transl Psychiatry. 2021. PMID: 34011927 Free PMC article.
APP gene copy number changes reflect exogenous contamination.
Kim J, Zhao B, Huang AY, Miller MB, Lodato MA, Walsh CA, Lee EA. Kim J, et al. Nature. 2020 Aug;584(7821):E20-E28. doi: 10.1038/s41586-020-2522-3. Epub 2020 Aug 19. Nature. 2020. PMID: 32814883 Free PMC article. No abstract available.
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