Associated Papers
In vivo base editing of Chd3 rescues behavioural abnormalities in mice.
Yang K et al.
Nature, 2026
Infantile spasm, an unreported epilepsy form of CHD3 gene: A case report.
Zhang T et al.
Medicine, 2025
Insights From a Novel Splicing Variant and Recurrent Arginine Variants in the CHD3 Gene Causing Snijders Blok-Campeau Syndrome.
Tie X et al.
American Journal of Medical Genetics. Part A, 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.
Pascual P et al.
Genes, 2023
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins.
Cardoso AR et al.
Genes, 2021
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Drivas TG et al.
European Journal of Human Genetics : Ejhg, 2020
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Snijders Blok L et al.
Nature Communications, 2018
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