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The Contribution of Mosaic Variants to Autism Spectrum Disorder.
Freed D, Pevsner J. Freed D, et al. PLoS Genet. 2016 Sep 15;12(9):e1006245. doi: 10.1371/journal.pgen.1006245. eCollection 2016 Sep. PLoS Genet. 2016. PMID: 27632392 Free PMC article.
De novo mutation is highly implicated in autism spectrum disorder (ASD). However, the contribution of post-zygotic mutation to ASD is poorly characterized. ...We build a model of de novo variation incorporating mosaic variants and errors …
De novo mutation is highly implicated in autism spectrum disorder (ASD). However, the contribution of post-zygot …
Advances in the genetics and neuropathology of tuberous sclerosis complex: edging closer to targeted therapy.
Curatolo P, Specchio N, Aronica E. Curatolo P, et al. Lancet Neurol. 2022 Sep;21(9):843-856. doi: 10.1016/S1474-4422(22)00213-7. Lancet Neurol. 2022. PMID: 35963265 Review.
In the past 5 years, understanding has increased of the cellular consequences of TSC1 and TSC2 genetic variants and the mTORC1 overactivation in neurons and glial cells and their contribution to network dysfunction. Infants and young children (aged 1-5 years) with t …
In the past 5 years, understanding has increased of the cellular consequences of TSC1 and TSC2 genetic variants and the mTORC1 overac …
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.
We characterize the landscape of somatic mutations-mutations occurring after fertilization-in the human brain using ultra-deep (~250) whole-genome sequencing of prefrontal cortex from 59 donors with autism spectrum disorder (ASD) and 15 control donors. We obs …
We characterize the landscape of somatic mutations-mutations occurring after fertilization-in the human brain using ultra-deep (~250) whole- …
Genetic mosaicism in the human brain: from lineage tracing to neuropsychiatric disorders.
Bizzotto S, Walsh CA. Bizzotto S, et al. Nat Rev Neurosci. 2022 May;23(5):275-286. doi: 10.1038/s41583-022-00572-x. Epub 2022 Mar 23. Nat Rev Neurosci. 2022. PMID: 35322263 Review.
This approach has revealed novel insights into the clonal structure of the human brain, which is a mosaic of clones traceable to the early embryo that contribute differentially to the brain and distinct areas of the cortex. Some of the mutations happening during dev …
This approach has revealed novel insights into the clonal structure of the human brain, which is a mosaic of clones traceable to the …
Somatic Mosaicism and Autism Spectrum Disorder.
D'Gama AM. D'Gama AM. Genes (Basel). 2021 Oct 26;12(11):1699. doi: 10.3390/genes12111699. Genes (Basel). 2021. PMID: 34828306 Free PMC article. Review.
Autism spectrum disorder (ASD) is a genetically heterogenous neurodevelopmental disorder. In the early years of next-generation sequencing, de novo germline variants were shown to contribute to ASD risk. These germline mutations are prese …
Autism spectrum disorder (ASD) is a genetically heterogenous neurodevelopmental disorder. In the early years of …
AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder.
Yang C, Li J, Wu Q, Yang X, Huang AY, Zhang J, Ye AY, Dou Y, Yan L, Zhou WZ, Kong L, Wang M, Ai C, Yang D, Wei L. Yang C, et al. Database (Oxford). 2018 Jan 1;2018:bay106. doi: 10.1093/database/bay106. Database (Oxford). 2018. PMID: 30339214 Free PMC article.
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with strong genetic contributions. ...In particular, AutismKB 2.0 highlights 5669 de novo SNVs/indels due to their significant contribution to ASD genetics and includ …
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with strong genetic contributions …
Recent Advances in Understanding the Genetic Architecture of Autism.
Dias CM, Walsh CA. Dias CM, et al. Annu Rev Genomics Hum Genet. 2020 Aug 31;21:289-304. doi: 10.1146/annurev-genom-121219-082309. Epub 2020 May 12. Annu Rev Genomics Hum Genet. 2020. PMID: 32396753 Review.
Recent advances in understanding the genetic architecture of autism spectrum disorder have allowed for unprecedented insight into its biological underpinnings. New studies have elucidated the contributions of a variety of forms of genetic variation to …
Recent advances in understanding the genetic architecture of autism spectrum disorder have allowed for unprecedented in …
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
Krupp DR, Barnard RA, Duffourd Y, Evans SA, Mulqueen RM, Bernier R, Rivière JB, Fombonne E, O'Roak BJ. Krupp DR, et al. Am J Hum Genet. 2017 Sep 7;101(3):369-390. doi: 10.1016/j.ajhg.2017.07.016. Epub 2017 Aug 31. Am J Hum Genet. 2017. PMID: 28867142 Free PMC article.
Genetic risk factors for autism spectrum disorder (ASD) have yet to be fully elucidated. Postzygotic mosaic mutations (PMMs) have been implicated in several neurodevelopmental disorders and overgrowth syndromes. By leveraging whole-exome sequencing dat …
Genetic risk factors for autism spectrum disorder (ASD) have yet to be fully elucidated. Postzygotic mosaic muta …
Large mosaic copy number variations confer autism risk.
Sherman MA, Rodin RE, Genovese G, Dias C, Barton AR, Mukamel RE, Berger B, Park PJ, Walsh CA, Loh PR. Sherman MA, et al. Nat Neurosci. 2021 Feb;24(2):197-203. doi: 10.1038/s41593-020-00766-5. Epub 2021 Jan 11. Nat Neurosci. 2021. PMID: 33432194 Free PMC article.
Although germline de novo copy number variants (CNVs) are known causes of autism spectrum disorder (ASD), the contribution of mosaic (early-developmental) copy number variants (mCNVs) has not been explored. In this study, we assess …
Although germline de novo copy number variants (CNVs) are known causes of autism spectrum disorder (ASD), the …
Developmental and temporal characteristics of clonal sperm mosaicism.
Yang X, Breuss MW, Xu X, Antaki D, James KN, Stanley V, Ball LL, George RD, Wirth SA, Cao B, Nguyen A, McEvoy-Venneri J, Chai G, Nahas S, Van Der Kraan L, Ding Y, Sebat J, Gleeson JG. Yang X, et al. Cell. 2021 Sep 2;184(18):4772-4783.e15. doi: 10.1016/j.cell.2021.07.024. Epub 2021 Aug 12. Cell. 2021. PMID: 34388390 Free PMC article.
Throughout development and aging, human cells accumulate mutations resulting in genomic mosaicism and genetic diversity at the cellular level. Mosaic mutations present in the gonads can affect both the individual and the offspring and subsequent generations. ...Thei …
Throughout development and aging, human cells accumulate mutations resulting in genomic mosaicism and genetic diversity at the cellul …
15 results