Associated Papers
An integrated, scaled approach to resolve TSC2 variants of uncertain significance.
Biar CG et al.
Biorxiv : the Preprint Server for Biology, 2026
Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.
Scollon S et al.
Jco Precision Oncology, 2025
Protocol to perform multiplexed assays of variant effect using curated loci prime editing.
Biar CG et al.
Star Protocols, 2025
Comprehensive genetic variant analysis reveals combination of KRAS and LRP1B as a predictive biomarker of response to immunotherapy in patients with non-small cell lung cancer.
Eklund EA et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2025
An open-label, phase IB/II study of abemaciclib with paclitaxel for tumors with CDK4/6 pathway genomic alterations.
Kim KH et al.
Esmo Open, 2025
Foetal cardiac rhabdomyoma due to paternal TSC1 Mutation: a case report and literature review.
Nardi E et al.
Pathologica, 2025
New insights into tuberous sclerosis complex: from structure to pathogenesis.
Chen CS et al.
Frontiers in Cell and Developmental Biology, 2025
Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.
Milon V et al.
European Journal of Human Genetics : Ejhg, 2024
Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.
Dufner-Almeida LG et al.
Genes, 2024
Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" Cohort.
Chung CWT et al.
Molecular Genetics & Genomic Medicine, 2024
Multimodal framework to resolve variants of uncertain significance in TSC2.
Biar CG et al.
Biorxiv : the Preprint Server for Biology, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal.
West HD et al.
Human Mutation, 2023
Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.
Togi S et al.
International Journal of Molecular Sciences, 2022
Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.
Klonowska K et al.
The Journal of Clinical Investigation, 2022
Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations.
Wang W et al.
Genetics and Molecular Biology, 2022
Analysis of Clinical Features and Next-Generation Sequencing of 12 Tuberous Sclerosis Families in China.
Wang X et al.
Frontiers in Medicine, 2022
Impaired myelin production due to an intrinsic failure of oligodendrocytes in mTORpathies.
Gruber VE et al.
Neuropathology and Applied Neurobiology, 2021
Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing.
Wang S et al.
Molecular Genetics & Genomic Medicine, 2021
Tuberous sclerosis complex-lymphangioleiomyomatosis involving several visceral organs: A case report.
Chen HB et al.
World Journal of Clinical Cases, 2021
Lymphangioleiomyomatosis Association with Underlying Genotype in Patients with Tuberous Sclerosis Complex.
Tian X et al.
Annals of the American Thoracic Society, 2021
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
Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile.
Giannikou K et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021
Architecture of the Tuberous Sclerosis Protein Complex.
Ramlaul K et al.
Journal of Molecular Biology, 2021
Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy.
Jiang T et al.
Frontiers in Molecular Neuroscience, 2021
A Multidisciplinary Approach in Prenatal Diagnosis of TSC With Cardiac Rhabdomyoma as the Initial Symptom.
Qi Y et al.
Frontiers in Pediatrics, 2021
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.
Schönauer R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.
Zhang N et al.
Frontiers in Genetics, 2020
Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.
Salussolia CL et al.
Annual Review of Genomics and Human Genetics, 2019
Genetics, genomics, and genotype-phenotype correlations of TSC: Insights for clinical practice.
Peron A et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018
Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations.
Bongaarts A et al.
Oncotarget, 2017
Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex.
Yang G et al.
Clinical Genetics, 2017
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
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.
Tyburczy ME et al.
Plos Genetics, 2015
Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.
Tyburczy ME et al.
Human Molecular Genetics, 2014
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
Bahl S et al.
Molecular Autism, 2013
Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.
van Eeghen AM et al.
Epilepsy Research, 2013