Associated Papers
O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.
Mayfield JM et al.
The Journal of Biological Chemistry, 2024
SMARCA4-related Coffin-Siris syndrome in newborn: a case report and literature review.
Wang Y et al.
Frontiers in Pediatrics, 2024
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Valencia AM et al.
Nature Genetics, 2023
Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients.
Qian Y et al.
Journal of Autism and Developmental Disorders, 2022
The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
Li D et al.
American Journal of Medical Genetics. Part A, 2020
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
A long noncoding RNA cluster-based genomic locus maintains proper development and visual function.
Wang F et al.
Nucleic Acids Research, 2019
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
Lim ET et al.
Nature Neuroscience, 2017
Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders.
Sokpor G et al.
Frontiers in Molecular Neuroscience, 2017
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
Weiss K et al.
American Journal of Human Genetics, 2016
PREDICTING SIGNIFICANCE OF UNKNOWN VARIANTS IN GLIAL TUMORS THROUGH SUB-CLASS ENRICHMENT.
Fichtenholtz AM et al.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing, 2016
Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.
Tzeng M et al.
American Journal of Medical Genetics. Part A, 2014
Coffin-Siris syndrome is a SWI/SNF complex disorder.
Tsurusaki Y et al.
Clinical Genetics, 2014
Creating a neural specific chromatin landscape by npBAF and nBAF complexes.
Staahl BT et al.
Current Opinion in Neurobiology, 2013
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
Tsurusaki Y et al.
Nature Genetics, 2012