Associated Papers
Computational modeling of human genetic variants in mice.
Dong K et al.
Biorxiv : the Preprint Server for Biology, 2025
Integrating epidemiology and genomics data to estimate the prevalence of acquired cysteine drug targets in the U.S. cancer patient population.
Arun AS et al.
The Pharmacogenomics Journal, 2025
SMARCA4-deficient primary bone sarcoma with "teratoid" features in a rhabdoid tumor predisposition syndrome patient.
Sookdeo J et al.
Virchows Archiv : an International Journal of Pathology, 2025
Decoding the functional impact of the cancer genome through protein-protein interactions.
Fu H et al.
Nature Reviews. Cancer, 2025
Chromosomal analysis and short-term outcome of prenatally diagnosed congenital heart disease.
Verbeke M et al.
Scientific Reports, 2025
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
The theory of massively repeated evolution and full identifications of cancer-driving nucleotides (CDNs).
Zhang L et al.
Elife, 2024
Chemoproteogenomic stratification of the missense variant cysteinome.
Desai H et al.
Nature Communications, 2024
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
Multi-omic stratification of the missense variant cysteinome.
Desai H et al.
Biorxiv : the Preprint Server for Biology, 2023
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Valencia AM et al.
Nature Genetics, 2023
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Huang Y et al.
Frontiers in 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
Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.
Miller EM et al.
Bmc Medical Genomics, 2020
Clinical and mutational profiles of adult medulloblastoma groups.
Wong GC et al.
Acta Neuropathologica Communications, 2020
Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.
Fernando TM et al.
Nature Communications, 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
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Olafsson S et al.
Cell, 2020
Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.
Dong X et al.
Communications Biology, 2020
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 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
Integrative Genome-Scale DNA Methylation Analysis of a Large and Unselected Cohort Reveals 5 Distinct Subtypes of Colorectal Adenocarcinomas.
Fennell L et al.
Cellular and Molecular Gastroenterology and Hepatology, 2019
Modular Organization and Assembly of SWI/SNF Family Chromatin Remodeling Complexes.
Mashtalir N et al.
Cell, 2018
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