Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.

doi:10.1136/jmedgenet-2017-104759

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.

Journal of medical genetics - 1 Aug 2018

Pilarowski Genay O, Vernon Hilary J, Applegate Carolyn D, Boukas Leandros, Cho Megan T, Gurnett Christina A, Benke Paul J, Beaver Erin, Heeley Jennifer M, Medne Livija, Krantz Ian D, Azage Meron, Niyazov Dmitriy, Henderson Lindsay B, Wentzensen Ingrid M, Baskin Berivan, Sacoto Maria J Guillen, Bowman Gregory D, Bjornsson Hans T

Abstract excerpt

BACKGROUND: The list of Mendelian disorders of the epigenetic machinery has expanded rapidly during the last 5 years. A few missense variants in the chromatin remodeler CHD1 have been found in several large-scale sequencing efforts focused on uncovering the genetic aetiology of autism. OBJECTIVES: To explore whether variants in CHD1 are associated with a human phenotype. METHODS: We used GeneMatcher to identify...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromatin Assembly and Disassembly

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to DNA Helicases

Share to Facies

Share to Fibroblasts

Share to Histones

Share to Mutation, Missense

Share to Structure-Activity Relationship

Source

Open in PubMed Open full text

Identifiers

PMID: 28866611
DOI: 10.1136/jmedgenet-2017-104759
PMCID: PMC5834353

Genes

CHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.PMID 28866611Read ↗

Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses.Semantic proximity Read ↗

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.Semantic proximity Read ↗

Identification of novel Mendelian disorders of the epigenetic machinery (MDEMs)-associated functional mutations and neurodevelopmental disorders.Semantic proximity Read ↗

De novo mutations in histone-modifying genes in congenital heart disease.Semantic proximity Read ↗

Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?Semantic proximity Read ↗

Disrupted transcriptional networks regulated by <i>CHD1L</i> during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variantSemantic proximity Read ↗

Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.Semantic proximity Read ↗

De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsSemantic proximity Read ↗

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterization of chromatinopathies.Semantic proximity Read ↗

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.Semantic proximity Read ↗

Neurodevelopmental functions of CHD8: new insights and questions.Semantic proximity Read ↗

De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.