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
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Valencia AM et al.
Nature Genetics, 2023
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
Response To: Overlapping Phenotype from Double Trouble SMARCA2 and POLG1 Variants c.2556A > C and c.3708G > T, Respectively.
von Stülpnagel C et al.
Neuropediatrics, 2020
Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides-Baraitser Syndrome (SMARCA2 Mutation)-Due to a POLG1-Related Effect?
Hofmeister B et al.
Neuropediatrics, 2020
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
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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