Associated Papers
Genotype and phenotype correlation in epilepsy patients with SMARCA2 variants.
Yang Y et al.
Seizure, 2025
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
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy.
Tang S et al.
American Journal of Medical Genetics. Part A, 2017
The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up.
Ejaz R et al.
Clinical Case Reports, 2016
Phenotype and genotype in Nicolaides-Baraitser syndrome.
Sousa SB et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2014
Diverse modes of genomic alteration in hepatocellular carcinoma.
Jhunjhunwala S et al.
Genome Biology, 2014
25159915 (PubMed )
Supplement: 13059_2014_436_MOESM1_ESM.xlsx › Table_S2
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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