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Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.
D'Gama AM, Woodworth MB, Hossain AA, Bizzotto S, Hatem NE, LaCoursiere CM, Najm I, Ying Z, Yang E, Barkovich AJ, Kwiatkowski DJ, Vinters HV, Madsen JR, Mathern GW, Blümcke I, Poduri A, Walsh CA. D'Gama AM, et al. Among authors: bizzotto s. Cell Rep. 2017 Dec 26;21(13):3754-3766. doi: 10.1016/j.celrep.2017.11.106. Cell Rep. 2017. PMID: 29281825 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.
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.
Landmarks of human embryonic development inscribed in somatic mutations.
Bizzotto S, Dou Y, Ganz J, Doan RN, Kwon M, Bohrson CL, Kim SN, Bae T, Abyzov A; NIMH Brain Somatic Mosaicism Network; Park PJ, Walsh CA. Bizzotto S, et al. Science. 2021 Mar 19;371(6535):1249-1253. doi: 10.1126/science.abe1544. Science. 2021. PMID: 33737485 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.
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: bizzotto s. Genome Biol. 2021 Mar 29;22(1):92. doi: 10.1186/s13059-021-02285-3. Genome Biol. 2021. PMID: 33781308 Free PMC article.
Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial.
Blümcke I, Coras R, Busch RM, Morita-Sherman M, Lal D, Prayson R, Cendes F, Lopes-Cendes I, Rogerio F, Almeida VS, Rocha CS, Sim NS, Lee JH, Kim SH, Baulac S, Baldassari S, Adle-Biassette H, Walsh CA, Bizzotto S, Doan RN, Morillo KS, Aronica E, Mühlebner A, Becker A, Cienfuegos J, Garbelli R, Giannini C, Honavar M, Jacques TS, Thom M, Mahadevan A, Miyata H, Niehusmann P, Sarnat HB, Söylemezoglu F, Najm I. Blümcke I, et al. Among authors: bizzotto s. Epilepsia. 2021 Jun;62(6):1416-1428. doi: 10.1111/epi.16899. Epub 2021 May 5. Epilepsia. 2021. PMID: 33949696
31 results