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
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.
Karimi K et al.
American Journal of Human Genetics, 2025
Missense Mutation in Human CHD4 Causes Ventricular Noncompaction by Repressing ADAMTS1.
Shi W et al.
Circulation Research, 2023
Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot.
Harvey DC et al.
Frontiers in Cardiovascular Medicine, 2023
37840956 (PubMed )
Supplement: Table1.xlsx › Supp_Table_1
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
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
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
De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.
Sevim Bayrak C et al.
Genome Medicine, 2020
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