Associated Papers
In silico Analysis of CHD4 Mutations Reveals Domain-Specific Impacts on Cardiovascular Disorders Among Patients With Rare Diseases.
Novillo A et al.
Human Mutation, 2026
Chromatin Remodulator CHD4: A Potential Target for Cancer Interception.
Goswami K et al.
Genes, 2025
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.
Karimi K et al.
American Journal of Human Genetics, 2025
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme.
Sosinsky A et al.
Nature Medicine, 2024
38200255 (PubMed )
Supplement: 41591_2023_2682_MOESM3_ESM.xlsx › Table_S1
A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1).
Da Silva JD et al.
Biomedicines, 2022
36672520 (PubMed )
Supplement: biomedicines-11-00012-s001.zip › Table_S2-S5.xlsx › Table_S5
CHD4 variants are associated with childhood idiopathic epilepsy with sinus arrhythmia.
Liu XR et al.
Cns Neuroscience & Therapeutics, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
Audain E et al.
Plos Genetics, 2021
34324492 (PubMed )
Supplement: pgen.1009679.s019.xlsx › Sheet_B
Nucleosome-CHD4 chromatin remodeler structure maps human disease mutations.
Farnung L et al.
Elife, 2020
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Sifrim A et al.
Nature Genetics, 2016
27479907 (PubMed )
Supplement: NIHMS69098-supplement-Supplementary_figures.pdf
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