Associated Papers
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.
Karimi K et al.
American Journal of Human Genetics, 2025
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
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