Associated Papers
PRT3789 Is a First-in-Human SMARCA2-Selective Degrader That Induces Synthetic Lethality in SMARCA4-Mutated Cancers.
Hulse M et al.
Cancer Research, 2026
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
Computational modeling of human genetic variants in mice.
Dong K et al.
Biorxiv : the Preprint Server for Biology, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
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
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
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 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
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
Dominant-negative SMARCA4 mutants alter the accessibility landscape of tissue-unrestricted enhancers.
Hodges HC et al.
Nature Structural & Molecular Biology, 2018
Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders.
Bögershausen N et al.
Frontiers in Molecular Neuroscience, 2018
Smarca4 ATPase mutations disrupt direct eviction of PRC1 from chromatin.
Stanton BZ et al.
Nature Genetics, 2017
Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders.
Sokpor G et al.
Frontiers in Molecular Neuroscience, 2017
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
Comparative genomic analysis of primary tumors and metastases in breast cancer.
Bertucci F et al.
Oncotarget, 2016
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