Associated Papers
Clinical Validation of Local Versus Commercial Genomic Testing in Cancer: A Comparison of Tissue and Plasma Concordance.
Faulkner LG et al.
Cancer Investigation, 2025
Genetic validation of a TSC2 immunohistochemistry assay in TSC/mTOR-pathway altered renal tumors.
Akbari A et al.
Human Pathology, 2024
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
Whole-exome sequencing of calcitonin-producing pancreatic neuroendocrine neoplasms indicates a unique molecular signature.
Döring C et al.
Frontiers in Oncology, 2023
A Case Study of Clinical Response to Rucaparib in a Patient with Metastatic Castration-Resistant Prostate Cancer and a RAD51B Alteration.
Sautois B et al.
Current Oncology (toronto, Ont.), 2022
A systematic genome-wide mapping of oncogenic mutation selection during CRISPR-Cas9 genome editing.
Sinha S et al.
Nature Communications, 2021
Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.
Liu S et al.
Communications Biology, 2021
Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex.
Meng Y et al.
Journal of Human Genetics, 2021
Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.
Moradian MM et al.
Human Genome Variation, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
García-Cárdenas JM et al.
Journal of Medical Case Reports, 2020
Characterizations of Gene Alterations in Melanoma Patients from Chinese Population.
Luo Y et al.
Biomed Research International, 2020
Olaparib is effective for recurrent urothelial carcinoma with BRCA2 pathogenic germline mutation: first report on olaparib response in recurrent UC.
Yang H et al.
Therapeutic Advances in Medical Oncology, 2020
The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.
Zhang N et al.
Frontiers in Genetics, 2020
Mutational analysis of renal angiomyolipoma associated with tuberous sclerosis complex and the outcome of short-term everolimus therapy.
Ni J et al.
Scientific Reports, 2019
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Jungwirth G et al.
Acta Neuropathologica Communications, 2019
Survival prediction of tuberous sclerosis complex gene variant in patients with advanced non-small-cell lung cancer treated with platinum doublet.
Ryu JS et al.
Bioscience Reports, 2019
Current Coverage of the mTOR Pathway by Next-Generation Sequencing Oncology Panels.
Seeboeck R et al.
International Journal of Molecular Sciences, 2019
Axitinib overcomes multiple imatinib resistant cKIT mutations including the gatekeeper mutation T670I in gastrointestinal stromal tumors.
Liu F et al.
Therapeutic Advances in Medical Oncology, 2019
Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome.
Papadopoulou A et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
Analysis of TSC1 mutation spectrum in mucosal melanoma.
Ma M et al.
Journal of Cancer Research and Clinical Oncology, 2018
Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece.
Avgeris S et al.
Scientific Reports, 2017
Comprehensive pharmacogenetic profiling of the epidermal growth factor receptor pathway for biomarkers of response to, and toxicity from, cetuximab.
Madi A et al.
Journal of Medical Genetics, 2017
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Comprehensive screening of target molecules by next-generation sequencing in patients with malignant solid tumors: guiding entry into phase I clinical trials.
Tanabe Y et al.
Molecular Cancer, 2016
Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors.
Yang J et al.
Human Molecular Genetics, 2016
Mutational Profiles Reveal an Aberrant TGF-β-CEA Regulated Pathway in Colon Adenomas.
Chen J et al.
Plos One, 2016
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
He KY et al.
Plos One, 2016
A Novel Inherited Mutation in PRKAR1A Abrogates PreRNA Splicing in a Carney Complex Family.
Sun Y et al.
The Canadian Journal of Cardiology, 2015
Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis.
Liu Q et al.
Journal of Child Neurology, 2015
Development and Characterization of Bladder Cancer Patient-Derived Xenografts for Molecularly Guided Targeted Therapy.
Pan CX et al.
Plos One, 2015
Three novel mutations of TSC1 gene in Chinese patients with tuberous sclerosis complex.
Zuo F et al.
International Journal of Dermatology, 2013
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
Bahl S et al.
Molecular Autism, 2013
Genome-wide association study of aspirin-exacerbated respiratory disease in a Korean population.
Park BL et al.
Human Genetics, 2013
High-resolution melting analysis is a more effective approach for screening TSC genes mutations.
Tsai TS et al.
Genetic Testing and Molecular Biomarkers, 2011
Molecular evolutionary analysis of cancer cell lines.
Zhang Y et al.
Molecular Cancer Therapeutics, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
Hung CC et al.
Bmc Medical Genetics, 2006
Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.
Ali M et al.
Acta Neurologica Scandinavica, 2005
Molecular analysis of the TSC1 gene in adenocarcinoma of the lung.
Takamochi K et al.
Lung Cancer (amsterdam, Netherlands), 2004
Differential localization of hamartin and tuberin and increased S6 phosphorylation in a tuber.
Jansen FE et al.
Neurology, 2004
TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.
Langkau N et al.
European Journal of Pediatrics, 2002
Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography.
Bénit P et al.
Human Mutation, 2000