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Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels.
Huang L, Bichsel C, Norris AL, Thorpe J, Pevsner J, Alexandrescu S, Pinto A, Zurakowski D, Kleiman RJ, Sahin M, Greene AK, Bischoff J. Huang L, et al. Among authors: thorpe j. Arterioscler Thromb Vasc Biol. 2022 Jan;42(1):e27-e43. doi: 10.1161/ATVBAHA.121.316651. Epub 2021 Oct 21. Arterioscler Thromb Vasc Biol. 2022. PMID: 34670408 Free PMC article.
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.
Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury.
Osei-Owusu IA, Norris AL, Joynt AT, Thorpe J, Cho S, Tierney E, Schmidt J, Hagopian L, Harris J, Pevsner J. Osei-Owusu IA, et al. Among authors: thorpe j. Cold Spring Harb Mol Case Stud. 2020 Dec 17;6(6):a005884. doi: 10.1101/mcs.a005884. Print 2020 Dec. Cold Spring Harb Mol Case Stud. 2020. PMID: 33335013 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. Among authors: thorpe j. Genome Biol. 2021 Mar 29;22(1):92. doi: 10.1186/s13059-021-02285-3. Genome Biol. 2021. PMID: 33781308 Free PMC article.
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.
Rodin RE, Dou Y, Kwon M, Sherman MA, D'Gama AM, Doan RN, Rento LM, Girskis KM, Bohrson CL, Kim SN, Nadig A, Luquette LJ, Gulhan DC; Brain Somatic Mosaicism Network; Park PJ, Walsh CA. Rodin RE, et al. Nat Neurosci. 2021 Feb;24(2):176-185. doi: 10.1038/s41593-020-00765-6. Epub 2021 Jan 11. Nat Neurosci. 2021. PMID: 33432195 Free PMC article.
Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.
Rodin RE, Dou Y, Kwon M, Sherman MA, D'Gama AM, Doan RN, Rento LM, Girskis KM, Bohrson CL, Kim SN, Nadig A, Luquette LJ, Gulhan DC; Brain Somatic Mosaicism Network; Park PJ, Walsh CA. Rodin RE, et al. Nat Neurosci. 2021 Apr;24(4):611. doi: 10.1038/s41593-021-00830-8. Nat Neurosci. 2021. PMID: 33753946 Free PMC article. No abstract available.
Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.
Rodin RE, Dou Y, Kwon M, Sherman MA, D'Gama AM, Doan RN, Rento LM, Girskis KM, Bohrson CL, Kim SN, Nadig A, Luquette LJ, Gulhan DC; Brain Somatic Mosaicism Network; Park PJ, Walsh CA. Rodin RE, et al. Nat Neurosci. 2023 Oct;26(10):1833. doi: 10.1038/s41593-023-01437-x. Nat Neurosci. 2023. PMID: 37644260 No abstract available.
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.
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. Among authors: thorpe j. Science. 2017 Apr 28;356(6336):eaal1641. doi: 10.1126/science.aal1641. Epub 2017 Apr 27. Science. 2017. PMID: 28450582 Free PMC article. Review.
661 results