Associated Papers
Clinical and Genetic Analysis of SMARCC2-Related Diseases in Three Chinese Patients.
Ou S et al.
Molecular Genetics & Genomic Medicine, 2026
41532374 (PubMed )
Supplement: MGG3-14-e70198-s001.xlsx › Table_S1
Long-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report.
Ibrahim AA et al.
Bmc Medical Genomics, 2025
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Bosch E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Epilepsy in Coffin-Siris syndrome: A report from the international CSS registry and review of the literature.
Ciliberto M et al.
American Journal of Medical Genetics. Part A, 2023
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM6_ESM.xlsx › Supplementary_Data_4
Select a paper to view details