Associated Papers
Global developmental delay: comparison of developmental profiles between gene-positive/suspicious positive and gene-negative cases.
Shan L et al.
Pediatric Research, 2025
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
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Valencia AM et al.
Nature Genetics, 2023
Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome.
Simmers R et al.
Ophthalmic Genetics, 2022
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
Parental mosaicism in de novo neurodevelopmental diseases.
Shu L et al.
American Journal of Medical Genetics. Part A, 2021
Two cases of Nicolaides-Baraitser syndrome, one with a novel SMARCA2 variant.
Karaer K
Clinical Dysmorphology, 2020
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
Xiong J et al.
Frontiers in Neuroscience, 2019
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
Nicolaides-Baraitser syndrome: defining a phenotype.
Pretegiani E et al.
Journal of Neurology, 2016
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
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