Associated Papers
Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions.
Araji S et al.
Clinical Genetics, 2026
SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.
Kehrer-Sawatzki H et al.
Familial Cancer, 2025
Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.
George SL et al.
Cancer Discovery, 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma.
Guo Z et al.
Acta Biochimica Et Biophysica Sinica, 2024
ASXL1 inactivation and reduced H3K27me3 across central nervous system tumors.
Zhang KY et al.
Acta Neuropathologica, 2024
Coffin-Siris Syndrome and SMARCB1 Mutation Presenting With Schwannomatosis: A Case Report and Literature Review.
Gallagher JE et al.
Cureus, 2024
Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.
Yang X et al.
Bmc Medicine, 2024
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Schmetz A et al.
Human Genetics, 2024
ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.
Zhou Y et al.
Science Advances, 2023
A Carboxy-terminal Smarcb1 Point Mutation Induces Hydrocephalus Formation and Affects AP-1 and Neuronal Signalling Pathways in Mice.
Brugmans AK et al.
Cellular and Molecular Neurobiology, 2023
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Valencia AM et al.
Nature Genetics, 2023
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
Epilepsy in Coffin-Siris syndrome: A report from the international CSS registry and review of the literature.
Ciliberto M et al.
American Journal of Medical Genetics. Part A, 2023
IGH Translocations in Chinese Patients With Chronic Lymphocytic Leukemia: Clinicopathologic Characteristics and Genetic Profile.
Li Q et al.
Frontiers in Oncology, 2022
Mesonephric-Like Adenocarcinoma of Uterine Corpus: A Clinicopathological and Targeted Genomic Profiling Study in a Single Institution.
Ma T et al.
Frontiers in Oncology, 2022
Chromatin landscape signals differentially dictate the activities of mSWI/SNF family complexes.
Mashtalir N et al.
Science (new York, N.y.), 2021
Tumor Evolution in a Patient with Recurrent Endometrial Cancer and Synchronous Neuroendocrine Cancer and Response to Checkpoint Inhibitor Treatment.
Trikalinos NA et al.
The Oncologist, 2021
EGFR-Mutated Squamous Cell Lung Cancer and Its Association With Outcomes.
Jin R et al.
Frontiers in Oncology, 2021
Clinical and mutational profiles of adult medulloblastoma groups.
Wong GC et al.
Acta Neuropathologica Communications, 2020
The SWI/SNF complex in cancer - biology, biomarkers and therapy.
Mittal P et al.
Nature Reviews. Clinical Oncology, 2020
A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.
Nassar AH et al.
British Journal of Cancer, 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
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Sekiguchi F et al.
Journal of Human Genetics, 2019
Recurrent SMARCB1 Mutations Reveal a Nucleosome Acidic Patch Interaction Site That Potentiates mSWI/SNF Complex Chromatin Remodeling.
Valencia AM et al.
Cell, 2019
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM et al.
Clinical Epigenetics, 2019
Genetic Predisposition to Childhood Cancer in the Genomic Era.
Plon SE et al.
Annual Review of Genomics and Human Genetics, 2019
Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects.
Filatova A et al.
Nature Communications, 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
A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.
Diets IJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.
Aref-Eshghi E et al.
Nature Communications, 2018
Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis.
Holsten T et al.
European Journal of Human Genetics : Ejhg, 2018
Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.
Ross JS et al.
Cancer, 2018
Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders.
Bögershausen N et al.
Frontiers in Molecular Neuroscience, 2018
Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.
Chalmers ZR et al.
Genome Medicine, 2017
Composition and Function of Mammalian SWI/SNF Chromatin Remodeling Complexes in Human Disease.
Pulice JL et al.
Cold Spring Harbor Symposia on Quantitative Biology, 2016
Numerous BAF complex genes are mutated in Coffin-Siris syndrome.
Miyake N et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2014
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
The role of BAF (mSWI/SNF) complexes in mammalian neural development.
Son EY et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2014
Coffin-Siris syndrome is a SWI/SNF complex disorder.
Tsurusaki Y et al.
Clinical 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