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2021 2
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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.
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. 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.
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.
Khoshkhoo S, Wang Y, Chahine Y, Erson-Omay EZ, Robert SM, Kiziltug E, Damisah EC, Nelson-Williams C, Zhu G, Kong W, Huang AY, Stronge E, Phillips HW, Chhouk BH, Bizzotto S, Chen MH, Adikari TN, Ye Z, Witkowski T, Lai D, Lee N, Lokan J, Scheffer IE, Berkovic SF, Haider S, Hildebrand MS, Yang E, Gunel M, Lifton RP, Richardson RM, Blümcke I, Alexandrescu S, Huttner A, Heinzen EL, Zhu J, Poduri A, DeLanerolle N, Spencer DD, Lee EA, Walsh CA, Kahle KT. Khoshkhoo S, et al. JAMA Neurol. 2023 Jun 1;80(6):578-587. doi: 10.1001/jamaneurol.2023.0473. JAMA Neurol. 2023. PMID: 37126322 Free PMC article.
Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements.
Luquette LJ, Miller MB, Zhou Z, Bohrson CL, Zhao Y, Jin H, Gulhan D, Ganz J, Bizzotto S, Kirkham S, Hochepied T, Libert C, Galor A, Kim J, Lodato MA, Garaycoechea JI, Gawad C, West J, Walsh CA, Park PJ. Luquette LJ, et al. Nat Genet. 2022 Oct;54(10):1564-1571. doi: 10.1038/s41588-022-01180-2. Epub 2022 Sep 26. Nat Genet. 2022. PMID: 36163278 Free PMC article.
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 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.
Somatic cancer driver mutations are enriched and associated with inflammatory states in Alzheimer's disease microglia.
Huang AY, Zhou Z, Talukdar M, Miller MB, Chhouk B, Enyenihi L, Rosen I, Stronge E, Zhao B, Kim D, Choi J, Khoshkhoo S, Kim J, Ganz J, Travaglini K, Gabitto M, Hodge R, Kaplan E, Lein E, De Jager PL, Bennett DA, Lee EA, Walsh CA. Huang AY, et al. bioRxiv [Preprint]. 2024 Jan 4:2024.01.03.574078. doi: 10.1101/2024.01.03.574078. bioRxiv. 2024. PMID: 38260600 Free PMC article. Preprint.
15 results