Associated Papers
Genotype and phenotype correlation in epilepsy patients with SMARCA2 variants.
Yang Y et al.
Seizure, 2025
Computational modeling of human genetic variants in mice.
Dong K et al.
Biorxiv : the Preprint Server for Biology, 2025
40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_9_SMARCA2_4_and_Paralogous_Library.xlsx › Sheet1_SMARCA2_4_pathogenecity
Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome.
Simmers R et al.
Ophthalmic Genetics, 2022
35762114 (PubMed )
Supplement: supplement_1.pdf
Ten-year follow-up of Nicolaides-Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2-associated NCBRS.
Zhang X et al.
Molecular Genetics & Genomic Medicine, 2022
Glaucoma and degenerative vitreoretinopathy in a girl with Nicolaides-Baraitser syndrome.
Sethi S et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2019
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Gibson KM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Creating a neural specific chromatin landscape by npBAF and nBAF complexes.
Staahl BT et al.
Current Opinion in Neurobiology, 2013
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
Van Houdt JK et al.
Nature Genetics, 2012
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