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Disruptive CHD8 mutations define a subtype of autism early in development.
Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, Failla P, Peeters H, Steyaert J, Vissers LELM, Francescatto L, Mefford HC, Rosenfeld JA, Bakken T, O'Roak BJ, Pawlus M, Moon R, Shendure J, Amaral DG, Lein E, Rankin J, Romano C, de Vries BBA, Katsanis N, Eichler EE. Bernier R, et al. Cell. 2014 Jul 17;158(2):263-276. doi: 10.1016/j.cell.2014.06.017. Epub 2014 Jul 3. Cell. 2014. PMID: 24998929 Free PMC article.
In addition to a high likelihood of an ASD diagnosis among patients bearing CHD8 mutations, characteristics enriched in this group included macrocephaly, distinct faces, and gastrointestinal complaints. chd8 disruption in zebrafish recapitulates featur …
In addition to a high likelihood of an ASD diagnosis among patients bearing CHD8 mutations, characteristics enriched in this g …
Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology.
Barnard RA, Pomaville MB, O'Roak BJ. Barnard RA, et al. Front Neurosci. 2015 Dec 17;9:477. doi: 10.3389/fnins.2015.00477. eCollection 2015. Front Neurosci. 2015. PMID: 26733790 Free PMC article. Review.
Individuals with a CHD8 mutation show an ASD subtype that includes similar physical characteristics, such as macrocephaly and prolonged GI problems including recurrent constipation. Similarly, animal models of CHD8 disruption exhibit enlarged head circ …
Individuals with a CHD8 mutation show an ASD subtype that includes similar physical characteristics, such as macrocephaly and …
A de novo variant of CHD8 in a patient with autism spectrum disorder.
Alotaibi M, Ramzan K. Alotaibi M, et al. Discoveries (Craiova). 2020 Mar 31;8(1):e107. doi: 10.15190/d.2020.4. Discoveries (Craiova). 2020. PMID: 32309624 Free PMC article.
Mutations in chromodomain helicase DNA-binding protein 8 (CHD8) gene, have been associated with autism, macrocephaly, speech delay, distinct facial features, sleep and gastrointestinal disturbances. ...Whole exome sequencing for parent-child trio revealed a de novo
Mutations in chromodomain helicase DNA-binding protein 8 (CHD8) gene, have been associated with autism, macrocephaly, speech d
CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories.
Villa CE, Cheroni C, Dotter CP, López-Tóbon A, Oliveira B, Sacco R, Yahya AÇ, Morandell J, Gabriele M, Tavakoli MR, Lyudchik J, Sommer C, Gabitto M, Danzl JG, Testa G, Novarino G. Villa CE, et al. Cell Rep. 2022 Apr 5;39(1):110615. doi: 10.1016/j.celrep.2022.110615. Cell Rep. 2022. PMID: 35385734 Free article.
Mutations in the chromodomain helicase DNA-binding 8 (CHD8) gene are a frequent cause of autism spectrum disorder (ASD). ...Our results define cell-type-specific CHD8-dependent molecular defects related to an abnormal program of proliferation and alter
Mutations in the chromodomain helicase DNA-binding 8 (CHD8) gene are a frequent cause of autism spectrum disorder (ASD). ...Ou
Sleep Problems in Children with ASD and Gene Disrupting Mutations.
Earl RK, Ward T, Gerdts J, Eichler EE, Bernier RA, Hudac CM. Earl RK, et al. J Genet Psychol. 2021 Sep-Oct;182(5):317-334. doi: 10.1080/00221325.2021.1922869. Epub 2021 May 17. J Genet Psychol. 2021. PMID: 33998396
Sleep difficulties are pervasive in autism spectrum disorder (ASD), yet how sleep problems relate to underlying biological mechanisms such as genetic etiology is unclear, despite recent reports of profound sleep problems in children with ASD-associated de novo likely gene disr
Sleep difficulties are pervasive in autism spectrum disorder (ASD), yet how sleep problems relate to underlying biological mechanisms such a …
Regulatory genes and pathways disrupted in autism spectrum disorders.
Ayhan F, Konopka G. Ayhan F, et al. Prog Neuropsychopharmacol Biol Psychiatry. 2019 Mar 8;89:57-64. doi: 10.1016/j.pnpbp.2018.08.017. Epub 2018 Aug 28. Prog Neuropsychopharmacol Biol Psychiatry. 2019. PMID: 30165121 Free PMC article. Review.
While these studies highlight the genetic complexity and begin to provide a window for delineating pathways at risk in ASD, the pathogenicity and specific contribution of many mutations to the disorder are poorly understood. Defining the convergent pathways disru
While these studies highlight the genetic complexity and begin to provide a window for delineating pathways at risk in ASD, the pathogenicit …
Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.
Earl RK, Turner TN, Mefford HC, Hudac CM, Gerdts J, Eichler EE, Bernier RA. Earl RK, et al. Mol Autism. 2017 Oct 5;8:54. doi: 10.1186/s13229-017-0173-5. eCollection 2017. Mol Autism. 2017. PMID: 29034068 Free PMC article.
UW DYRK1A cases were further characterized quantitatively and compared to a randomly subsampled set of idiopathic ASD cases matched on age and gender (n = 10) and to cases with an ASD-associated disruptive mutation to CHD8 (n = 12). Contribution of familial g …
UW DYRK1A cases were further characterized quantitatively and compared to a randomly subsampled set of idiopathic ASD cases matched on age a …