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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 …
Autism risk in offspring can be assessed through quantification of male sperm mosaicism.
Breuss MW, Antaki D, George RD, Kleiber M, James KN, Ball LL, Hong O, Mitra I, Yang X, Wirth SA, Gu J, Garcia CAB, Gujral M, Brandler WM, Musaev D, Nguyen A, McEvoy-Venneri J, Knox R, Sticca E, Botello MCC, Uribe Fenner J, Pérez MC, Arranz M, Moffitt AB, Wang Z, Hervás A, Devinsky O, Gymrek M, Sebat J, Gleeson JG. Breuss MW, et al. Nat Med. 2020 Jan;26(1):143-150. doi: 10.1038/s41591-019-0711-0. Epub 2019 Dec 23. Nat Med. 2020. PMID: 31873310 Free PMC article.
We measured sperm mosaicism using deep-whole-genome sequencing, for variants both present in an offspring and evident only in father's sperm, and identified single-nucleotide, structural and short tandem-repeat variants. We found that mosaicism
We measured sperm mosaicism using deep-whole-genome sequencing, for variants both present in an offspring and evident only in …
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- …
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 …
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
Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas.
Goldenberg A, Marguet F, Gilard V, Cardine AM, Hassani A, Doz F, Radi S, Vasseur S, Bou J, Branchaud M, Houdayer C, Baert-Desurmont S, Laquerriere A, Frebourg T. Goldenberg A, et al. Acta Neuropathol Commun. 2019 Dec 3;7(1):191. doi: 10.1186/s40478-019-0841-0. Acta Neuropathol Commun. 2019. PMID: 31796102 Free PMC article.
We report here the case of a young patient without any remarkable familial medical history who was first referred at 7 years of age, for an autism spectrum disorder (ASD) of Asperger type, not associated with macrocephaly. ...NGS performed on the hamartoma al …
We report here the case of a young patient without any remarkable familial medical history who was first referred at 7 years of age, for an …
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
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 …
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