Associated Papers
Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar.
Satish S et al.
Cancer Genetics, 2025
SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.
Kehrer-Sawatzki H et al.
Familial Cancer, 2025
Novel germline and somatic variants in familial and sporadic meningioma genes.
Bencheikh BOA et al.
Npj Genomic Medicine, 2025
Diagnostic and prognostic genomic aberrations in upper tract urothelial carcinoma can be identified in focal barbotage samples.
Axelsson TA et al.
Bju International, 2025
High-throughput screening of human genetic variants by pooled prime editing.
Herger M et al.
Cell Genomics, 2025
Mismatch Repair Proficient Colorectal Adenocarcinoma in Two Patients With Lynch Syndrome.
Khandakar B et al.
Clinical Genetics, 2025
SMARCB1 missense mutants disrupt SWI/SNF complex stability and remodeling activity.
Cooper GW et al.
Research Square, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma.
Guo Z et al.
Acta Biochimica Et Biophysica Sinica, 2024
Coffin-Siris Syndrome and SMARCB1 Mutation Presenting With Schwannomatosis: A Case Report and Literature Review.
Gallagher JE et al.
Cureus, 2024
EZH2 mutations in follicular lymphoma distort H3K27me3 profiles and alter transcriptional responses to PRC2 inhibition.
Romero P et al.
Nature Communications, 2024
Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.
Yang X et al.
Bmc Medicine, 2024
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas.
Youngblood MW et al.
Nature Communications, 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
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
Coffin-Siris syndrome and cancer susceptibility.
Borja NA et al.
Genetics in Medicine Open, 2023
The NESHIE and CP Genetics Resource (NCGR): A database of genes and variants reported in neonatal encephalopathy with suspected hypoxic ischemic encephalopathy (NESHIE) and consequential cerebral palsy (CP).
Holborn MA et al.
Genomics, 2022
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Plotkin SR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
SMARCB1-Deficient Cancers: Novel Molecular Insights and Therapeutic Vulnerabilities.
Cooper GW et al.
Cancers, 2022
Circulating tumour DNA sequencing to determine therapeutic response and identify tumour heterogeneity in patients with paediatric solid tumours.
Stankunaite R et al.
European Journal of Cancer (oxford, England : 1990), 2022
Clinicopathologic Characteristics of Grade 2/3 Meningiomas: A Perspective on the Role of Next-Generation Sequencing.
Kim J et al.
Frontiers in Oncology, 2022
Genetic testing in individuals with cerebral palsy.
May HJ et al.
Developmental Medicine and Child Neurology, 2021
High Concordance of Genomic Profiles between Primary and Metastatic Colorectal Cancer.
Lee SE et al.
International Journal of Molecular Sciences, 2021
Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.
Asselta R et al.
Thoracic Cancer, 2021
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Sivapiragasam A et al.
Cancer Medicine, 2021
Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management.
Del Baldo G et al.
Frontiers in Oncology, 2021
A scalable high-throughput targeted next-generation sequencing assay for comprehensive genomic profiling of solid tumors.
Conroy JM et al.
Plos One, 2021
Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.
Kim B et al.
Scientific Reports, 2020
Anaplastic Astrocytoma in a Child With Coffin-Siris Syndrome and a Germline SMARCE1 Mutation: A Case Report.
Lin B et al.
Journal of Pediatric Hematology/oncology, 2020
Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.
Hendricks A et al.
Cancers, 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
Targeted next-generation sequencing of well-differentiated rectal, gastric, and appendiceal neuroendocrine tumors to identify potential targets.
Park HY et al.
Human Pathology, 2019
Analysis of error profiles in deep next-generation sequencing data.
Ma X et al.
Genome Biology, 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