Associated Papers
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation.
Bosch E et al.
Human Genetics, 2024
39028335 (PubMed )
Supplement: 439_2024_2688_MOESM1_ESM.xlsx › missense_clinvar
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_
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Dyment DA et al.
American Journal of Medical Genetics. Part A, 2021
Select a paper to view details