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
De Novo SMARCC2 Variant in a Chinese Woman with Coffin-Siris Syndrome 8: a Case Report with Mild Intellectual Disability and Endocrinopathy.
Yi S et al.
Journal of Molecular Neuroscience : Mn, 2022
Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients.
Li D et al.
American Journal of Medical Genetics. Part A, 2022
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Sadikovic B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33547396 (PubMed )
Supplement: 41436_2020_1096_MOESM2_ESM.xlsx › Validation
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Machol K et al.
American Journal of Human Genetics, 2019
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