Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.
Salani F et al.
Esmo Open, 2025
TSC angiofibroma and ungual fibroma have different mutation signatures, with recurrent mutations in KMT2C.
Klonowska K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Specification of frequency criteria for secondary findings genes to improve variant classification concordance.
Johnston JJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
The role of genetic testing in adult patients with unexplained epilepsy.
Chung CT et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2024
Non-invasive prenatal detection of dominant single-gene disorders in fetal structural abnormalities: a clinical feasibility study.
Wang L et al.
Archives of Gynecology and Obstetrics, 2024
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Similar genetic profile in early and late stage urothelial tract cancer.
Stormoen DR et al.
Journal of Cancer Research and Clinical Oncology, 2024
Clinical outcomes of fetuses with cardiac rhabdomyoma: A case series from a tertiary center.
Okutucu G et al.
The Journal of Obstetrics and Gynaecology Research, 2024
Clinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms.
Chen D et al.
Orphanet Journal of Rare Diseases, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.
Togi S et al.
International Journal of Molecular Sciences, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Customised targeted massively parallel sequencing enables more precise diagnosis of patients with epilepsy.
Atli EI et al.
Internal Medicine Journal, 2022
CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.
Mayo S et al.
International Journal of Molecular Sciences, 2022
Low-grade oncocytic renal tumor (LOT): mutations in mTOR pathway genes and low expression of FOXI1.
Morini A et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data.
Long Q et al.
Frontiers in Genetics, 2022
Revisiting Brain Tuberous Sclerosis Complex in Rat and Human: Shared Molecular and Cellular Pathology Leads to Distinct Neurophysiological and Behavioral Phenotypes.
Kútna V et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2021
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.
Rosengren T et al.
Scientific Reports, 2020
Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.
Jiangyi W et al.
Aging, 2020
TSC1 and TSC2 Gene Mutations in Chinese Tuberous Sclerosis Complex Patients Clinically Characterized by Epilepsy.
He J et al.
Genetic Testing and Molecular Biomarkers, 2020
The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.
Zhang N et al.
Frontiers in Genetics, 2020
Precise detection of low-level somatic mutation in resected epilepsy brain tissue.
Sim NS et al.
Acta Neuropathologica, 2019
Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.
Salussolia CL et al.
Annual Review of Genomics and Human Genetics, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Histologic, immunohistochemical, and molecular features of pituicytomas and atypical pituicytomas.
Viaene AN et al.
Acta Neuropathologica Communications, 2019
Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).
Liu J et al.
Plos One, 2019
Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations.
Bongaarts A et al.
Oncotarget, 2017
Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex.
Ismail NF et al.
The Journal of Molecular Diagnostics : Jmd, 2017
Minute amounts of hamartin wildtype rescue the emergence of tuber-like lesions in conditional Tsc1 ablated mice.
Robens BK et al.
Neurobiology of Disease, 2016
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.
Giannikou K et al.
Plos Genetics, 2016
Do patients with tuberous sclerosis complex have an increased risk for malignancies?
Peron A et al.
American Journal of Medical Genetics. Part A, 2016
[Detection of TSC1/TSC2 gene mutation for rapid diagnosis of tuberous sclerosis complex by high-throughput sequencing technology].
Huang C
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi = Chinese Journal of Cellular and Molecular Immunology, 2016
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.
Kwiatkowski DJ et al.
European Journal of Human Genetics : Ejhg, 2015
Early neurodevelopmental screening in tuberous sclerosis complex: a potential window of opportunity.
Gipson TT et al.
Pediatric Neurology, 2014
TSC1 involvement in bladder cancer: diverse effects and therapeutic implications.
Guo Y et al.
The Journal of Pathology, 2013
Genome sequencing identifies a basis for everolimus sensitivity.
Iyer G et al.
Science (new York, N.y.), 2012
A systematic study of gene mutations in urothelial carcinoma; inactivating mutations in TSC2 and PIK3R1.
Sjödahl G et al.
Plos One, 2011
Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction.
Hoogeveen-Westerveld M et al.
Biochimica Et Biophysica Acta, 2010
Magnetic resonance imaging of renal involvement in genetically studied patients with tuberous sclerosis complex.
Pompili G et al.
European Journal of Radiology, 2009
Spectrum of phosphatidylinositol 3-kinase pathway gene alterations in bladder cancer.
Platt FM et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2009
Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitro.
Lugnier C et al.
Journal of Neuropathology and Experimental Neurology, 2009