Associated Papers
Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.
Chesneau B et al.
Clinical Genetics, 2026
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
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
Clinical utility of target capture-based panel sequencing in hematological malignancies: A multicenter feasibility study.
Yasuda T et al.
Cancer Science, 2020
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
The SWI/SNF complex in cancer - biology, biomarkers and therapy.
Mittal P et al.
Nature Reviews. Clinical Oncology, 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
Remodeling the cancer epigenome: mutations in the SWI/SNF complex offer new therapeutic opportunities.
Orlando KA et al.
Expert Review of Anticancer Therapy, 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
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.
Kosho T et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2014
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