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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. Among authors: doan r. bioRxiv [Preprint]. 2023 Dec 1:2023.11.30.569436. doi: 10.1101/2023.11.30.569436. bioRxiv. 2023. PMID: 38077003 Free PMC article. Preprint.
Cell lineage analysis with somatic mutations reveals late divergence of neuronal cell types and cortical areas in human cerebral cortex.
Kim SN, Viswanadham VV, Doan RN, Dou Y, Bizzotto S, Khoshkhoo S, Huang AY, Yeh R, Chhouk B, Truong A, Chappell KM, Beaudin M, Barton A, Akula SK, Rento L, Lodato M, Ganz J, Szeto RA, Li P, Tsai JW, Hill RS, Park PJ, Walsh CA. Kim SN, et al. Among authors: doan rn. bioRxiv [Preprint]. 2023 Nov 6:2023.11.06.565899. doi: 10.1101/2023.11.06.565899. bioRxiv. 2023. PMID: 37986891 Free PMC article. Preprint.
Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk.
Shin T, Song JHT, Kosicki M, Kenny C, Beck SG, Kelley L, Qian X, Bonacina J, Papandile F, Antony I, Gonzalez D, Scotellaro J, Bushinsky EM, Andersen RE, Maury E, Pennacchio LA, Doan RN, Walsh CA. Shin T, et al. Among authors: doan rn. medRxiv [Preprint]. 2023 Sep 22:2023.09.19.23295780. doi: 10.1101/2023.09.19.23295780. medRxiv. 2023. PMID: 37790480 Free PMC article. Preprint.
Reducing diagnostic delays in Acute Hepatic Porphyria using electronic health records data and machine learning: a multicenter development and validation study.
Bhasuran B, Schmolly K, Kapoor Y, Jayakumar NL, Doan R, Amin J, Meninger S, Cheng N, Deering R, Anderson K, Beaven SW, Wang B, Rudrapatna VA. Bhasuran B, et al. Among authors: doan r. medRxiv [Preprint]. 2023 Aug 31:2023.08.30.23293130. doi: 10.1101/2023.08.30.23293130. medRxiv. 2023. PMID: 37693437 Free PMC article. Preprint.
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. Among authors: doan rn. Nat Neurosci. 2023 Oct;26(10):1833. doi: 10.1038/s41593-023-01437-x. Nat Neurosci. 2023. PMID: 37644260 No abstract available.
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network. Akula SK, et al. Among authors: doan rn. JAMA Neurol. 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363. JAMA Neurol. 2023. PMID: 37486637 Free PMC article.
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.
Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, Wamsley B, Klei L, Wang L, Hao SP, Stevens CR, Cusick C, Babadi M, Banks E, Collins B, Dodge S, Gabriel SB, Gauthier L, Lee SK, Liang L, Ljungdahl A, Mahjani B, Sloofman L, Smirnov AN, Barbosa M, Betancur C, Brusco A, Chung BHY, Cook EH, Cuccaro ML, Domenici E, Ferrero GB, Gargus JJ, Herman GE, Hertz-Picciotto I, Maciel P, Manoach DS, Passos-Bueno MR, Persico AM, Renieri A, Sutcliffe JS, Tassone F, Trabetti E, Campos G, Cardaropoli S, Carli D, Chan MCY, Fallerini C, Giorgio E, Girardi AC, Hansen-Kiss E, Lee SL, Lintas C, Ludena Y, Nguyen R, Pavinato L, Pericak-Vance M, Pessah IN, Schmidt RJ, Smith M, Costa CIS, Trajkova S, Wang JYT, Yu MHC; Autism Sequencing Consortium (ASC); Broad Institute Center for Common Disease Genomics (Broad-CCDG); iPSYCH-BROAD Consortium; Cutler DJ, De Rubeis S, Buxbaum JD, Daly MJ, Devlin B, Roeder K, Sanders SJ, Talkowski ME. Fu JM, et al. Nat Genet. 2022 Sep;54(9):1320-1331. doi: 10.1038/s41588-022-01104-0. Epub 2022 Aug 18. Nat Genet. 2022. PMID: 35982160 Free PMC article.
91 results