Associated Papers
CRELD1-Associated Neurodevelopmental Disorder: Three New Individuals from Unrelated Families.
Archer J et al.
Genes, 2025
Biallelic CRELD1 variants cause severe muscle weakness and infantile epilepsy.
D'Alessandro M et al.
Brain Communications, 2025
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.
Chundru VK et al.
Nature Genetics, 2024
39313616 (PubMed )
Supplement: 41588_2024_1910_MOESM1_ESM.pdf
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
de Kovel CG et al.
Molecular Genetics & Genomic Medicine, 2016
27652284 (PubMed )
Supplement: MGG3-4-568-s002.xlsx › variant_overview
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