Associated Papers
Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions.
Araji S et al.
Clinical Genetics, 2026
Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 Study.
Tao K et al.
Cancer Science, 2026
SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.
Kehrer-Sawatzki H et al.
Familial Cancer, 2025
Constitutional mosaicism of pathogenic variants in SMARCB1 in a subset of patients with sporadic rhabdoid tumors.
Fleischmann LS et al.
Neuro-oncology, 2025
Looking beyond year 1 in the molecular era of pediatric brain tumor diagnosis: confirmatory testing of germline variants found on tumor sequencing.
Greene BL et al.
Frontiers in Oncology, 2024
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
An institutional review of genomic sequencing in pediatric solid tumors.
Turco GM et al.
Pediatric Blood & Cancer, 2023
Primary glomus tumour of the pituitary gland: diagnostic challenges of a rare and potentially aggressive neoplasm.
Quah BL et al.
Virchows Archiv : an International Journal of Pathology, 2021
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.
Winter H et al.
Cancers, 2019
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
McCabe MJ et al.
Scientific Reports, 2019
Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.
Kim YS et al.
Bmc Urology, 2018
Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.
Lee JY et al.
Translational Oncology, 2018
Pan-urologic cancer genomic subtypes that transcend tissue of origin.
Chen F et al.
Nature Communications, 2017
Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome.
Johann PD et al.
Brain Pathology (zurich, Switzerland), 2017
Atypical Teratoid Rhabdoid Tumor: Two Case Reports and an Analysis of Adult Cases with Implications for Pathophysiology and Treatment.
Dardis C et al.
Frontiers in Neurology, 2017
A rare mutation in a rare tumor--SMARCB1-deficient malignant glomus tumor.
Dabek B et al.
Genes, Chromosomes & Cancer, 2016
Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.
Lee JY et al.
Oncotarget, 2015
Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.
Park K et al.
Oncotarget, 2015
Biology and Treatment of Rhabdoid Tumor.
Geller JI et al.
Critical Reviews in Oncogenesis, 2015
High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.
Kim S et al.
Plos One, 2014
Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system.
Bruggers CS et al.
Pediatric Blood & Cancer, 2011
Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors.
Eaton KW et al.
Pediatric Blood & Cancer, 2011
Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor.
Kordes U et al.
Genes, Chromosomes & Cancer, 2010
Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan-McDermid syndrome) and atypical teratoid/rhabdoid tumor.
Sathyamoorthi S et al.
American Journal of Medical Genetics. Part A, 2009
Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors.
Jackson EM et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2009
Low-pass whole-genome and targeted sequencing of cell-free DNA from cerebrospinal fluid in pediatric patients with central nervous system tumors.
O'Halloran K et al.
Neuro-oncology Advances, 0