Associated Papers
Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders.
Tkemladze T et al.
European Journal of Human Genetics : Ejhg, 2026
Genotype and phenotype correlation in epilepsy patients with SMARCA2 variants.
Yang Y et al.
Seizure, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3
PHF6 cooperates with SWI/SNF complexes to facilitate transcriptional progression.
Mittal P et al.
Nature Communications, 2024
39181868 (PubMed )
Supplement: 41467_2024_51566_MOESM2_ESM.pdf
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
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
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
Xiong J et al.
Frontiers in Neuroscience, 2019
31031587 (PubMed )
Supplement: Table_1.XLSX › ASD_group
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
A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation.
Sánchez AI et al.
Case Reports in Genetics, 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
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.
Mari F et al.
Brain & Development, 2015
Phenotype and genotype in Nicolaides-Baraitser syndrome.
Sousa SB et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2014
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Wieczorek D et al.
Human Molecular Genetics, 2013
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