Associated Papers
Clinical Insights From a Case of Sifrim-Hitz-Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy.
Zhang J et al.
American Journal of Medical Genetics. Part A, 2026
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
Targeted sequencing and clinical strategies in children with autism spectrum disorder: A cohort study.
Hu C et al.
Frontiers in Genetics, 2023
CHD4 variants are associated with childhood idiopathic epilepsy with sinus arrhythmia.
Liu XR et al.
Cns Neuroscience & Therapeutics, 2021
Whole-exome sequencing reveals potential germline and somatic mutations in 60 malignant ovarian germ cell tumors†.
Chen J et al.
Biology of Reproduction, 2021
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