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Page 1
Mosaicism in Human Health and Disease.
Thorpe J, Osei-Owusu IA, Avigdor BE, Tupler R, Pevsner J. Thorpe J, et al. Annu Rev Genet. 2020 Nov 23;54:487-510. doi: 10.1146/annurev-genet-041720-093403. Epub 2020 Sep 11. Annu Rev Genet. 2020. PMID: 32916079 Free PMC article. Review.
Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases.
Garrison MA, Jang Y, Bae T, Cherskov A, Emery SB, Fasching L, Jones A, Moldovan JB, Molitor C, Pochareddy S, Peters MA, Shin JH, Wang Y, Yang X, Akbarian S, Chess A, Gage FH, Gleeson JG, Kidd JM, McConnell M, Mills RE, Moran JV, Park PJ, Sestan N, Urban AE, Vaccarino FM, Walsh CA, Weinberger DR, Wheelan SJ, Abyzov A; BSMN Consortium. Garrison MA, et al. Sci Data. 2023 Nov 20;10(1):813. doi: 10.1038/s41597-023-02645-7. Sci Data. 2023. PMID: 37985666 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.
Somatic mosaicism in the human genome.
Freed D, Stevens EL, Pevsner J. Freed D, et al. Genes (Basel). 2014 Dec 11;5(4):1064-94. doi: 10.3390/genes5041064. Genes (Basel). 2014. PMID: 25513881 Free PMC article. Review.
Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia.
Zhu X, Zhou B, Pattni R, Gleason K, Tan C, Kalinowski A, Sloan S, Fiston-Lavier AS, Mariani J, Petrov D, Barres BA, Duncan L, Abyzov A, Vogel H; Brain Somatic Mosaicism Network; Moran JV, Vaccarino FM, Tamminga CA, Levinson DF, Urban AE. Zhu X, et al. Nat Neurosci. 2021 Feb;24(2):186-196. doi: 10.1038/s41593-020-00767-4. Epub 2021 Jan 11. Nat Neurosci. 2021. PMID: 33432196 Free PMC article.
Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network.
McConnell MJ, Moran JV, Abyzov A, Akbarian S, Bae T, Cortes-Ciriano I, Erwin JA, Fasching L, Flasch DA, Freed D, Ganz J, Jaffe AE, Kwan KY, Kwon M, Lodato MA, Mills RE, Paquola ACM, Rodin RE, Rosenbluh C, Sestan N, Sherman MA, Shin JH, Song S, Straub RE, Thorpe J, Weinberger DR, Urban AE, Zhou B, Gage FH, Lehner T, Senthil G, Walsh CA, Chess A, Courchesne E, Gleeson JG, Kidd JM, Park PJ, Pevsner J, Vaccarino FM; Brain Somatic Mosaicism Network. McConnell MJ, et al. Science. 2017 Apr 28;356(6336):eaal1641. doi: 10.1126/science.aal1641. Epub 2017 Apr 27. Science. 2017. PMID: 28450582 Free PMC article. Review.
Long-read single-molecule maps of the functional methylome.
Sharim H, Grunwald A, Gabrieli T, Michaeli Y, Margalit S, Torchinsky D, Arielly R, Nifker G, Juhasz M, Gularek F, Almalvez M, Dufault B, Chandra SS, Liu A, Bhattacharya S, Chen YW, Vilain E, Wagner KR, Pevsner J, Reifenberger J, Lam ET, Hastie AR, Cao H, Barseghyan H, Weinhold E, Ebenstein Y. Sharim H, et al. Genome Res. 2019 Apr;29(4):646-656. doi: 10.1101/gr.240739.118. Epub 2019 Mar 7. Genome Res. 2019. PMID: 30846530 Free PMC article.
Comprehensive identification of somatic nucleotide variants in human brain tissue.
Wang Y, Bae T, Thorpe J, Sherman MA, Jones AG, Cho S, Daily K, Dou Y, Ganz J, Galor A, Lobon I, Pattni R, Rosenbluh C, Tomasi S, Tomasini L, Yang X, Zhou B, Akbarian S, Ball LL, Bizzotto S, Emery SB, Doan R, Fasching L, Jang Y, Juan D, Lizano E, Luquette LJ, Moldovan JB, Narurkar R, Oetjens MT, Rodin RE, Sekar S, Shin JH, Soriano E, Straub RE, Zhou W, Chess A, Gleeson JG, Marquès-Bonet T, Park PJ, Peters MA, Pevsner J, Walsh CA, Weinberger DR; Brain Somatic Mosaicism Network; Vaccarino FM, Moran JV, Urban AE, Kidd JM, Mills RE, Abyzov A. Wang Y, et al. Genome Biol. 2021 Mar 29;22(1):92. doi: 10.1186/s13059-021-02285-3. Genome Biol. 2021. PMID: 33781308 Free PMC article.
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