Associated Papers
SMARCA4-related Coffin-Siris syndrome in newborn: a case report and literature review.
Wang Y et al.
Frontiers in Pediatrics, 2024
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Valencia AM et al.
Nature Genetics, 2023
37500730 (PubMed )
Supplement: 41588_2023_1451_MOESM2_ESM.xlsx › SuppTable1Copied_230419
Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients.
Qian Y et al.
Journal of Autism and Developmental Disorders, 2022
Prenatal exome sequencing in fetuses with congenital heart defects.
Li R et al.
Clinical Genetics, 2020
A case of Coffin-Siris syndrome with severe congenital heart disease and a novel SMARCA4 variant.
Dsouza NR et al.
Cold Spring Harbor Molecular Case Studies, 2019
Select a paper to view details