Associated Papers
Linking Genotype to Clinical Features in SMC1A-Related Phenotypes: From Cornelia de Lange Syndrome to Developmental and Epileptic Encephalopathy, a Comprehensive Review.
Astorino MF et al.
Genes, 2025
SMC1A epilepsy syndrome: clinical data from a large international cohort.
Gibellato E et al.
American Journal of Medical Genetics. Part A, 2024
Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy.
Bozarth XL et al.
Genes, 2023
Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing.
Rentas S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Yuan B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Select a paper to view details