Associated Papers
Severe Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex (TSC) Family.
Tuller E et al.
Molecular Genetics & Genomic Medicine, 2026
Clinicopathological and molecular characterization of seven rare cases of renal cell carcinoma with hemangioblastoma-like features: Expanding the morphological spectrum of renal tumours with tuberous sclerosis complex/mammalian target of rapamycin mutations.
Tao X et al.
Histopathology, 2026
Matched tissue-blood whole-exome sequencing improves detection of genetic etiologies in pediatric drug-resistant epilepsy.
Ruan Y et al.
Frontiers in Pediatrics, 2026
Tuberous sclerosis complex-associated renal cell carcinoma, an underappreciated form of familial renal cancer, is characterized by activation of the TFEB/TFE3 pathway.
Ricketts CJ et al.
Human Molecular Genetics, 2025
Identify the origin of de novo variants in TSC patients by ddPCR.
Ni K et al.
Acta Epileptologica, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations.
Praticò AD et al.
Scientific Reports, 2025
mTORC1 activation drives astrocyte reactivity in cortical tubers and brain organoid models of TSC.
Li TL et al.
Biorxiv : the Preprint Server for Biology, 2025
Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex.
Schultz KAP et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.
Janssen AEJ et al.
Nature Communications, 2024
Multimodal framework to resolve variants of uncertain significance in TSC2.
Biar CG et al.
Biorxiv : the Preprint Server for Biology, 2024
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM et al.
The Lancet. Neurology, 2023
Design of negative-regulating proteins of Rheb/mTORC1 with much-reduced sizes of the tuberous sclerosis protein complex.
Fu W et al.
Protein Science : a Publication of the Protein Society, 2023
TSC/MTOR mutated renal cell carcinoma with leiomyomatous stroma is a distinct entity: a comprehensive study of 12 cases.
Tjota MY et al.
Human Pathology, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.
Ye Z et al.
Human Mutation, 2022
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
Epilepsy Management in Tuberous Sclerosis Complex: Existing and Evolving Therapies and Future Considerations.
Nabavi Nouri M et al.
Pediatric Neurology, 2022
Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country.
Akbar F et al.
Epilepsy & Behavior Reports, 2022
Frequency and spectrum of mutations across 94 cancer predisposition genes in African American women with invasive breast cancer.
Lovejoy LA et al.
Familial Cancer, 2021
Architecture of the Tuberous Sclerosis Protein Complex.
Ramlaul K et al.
Journal of Molecular Biology, 2021
Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex.
Farach LS et al.
Pediatric Neurology, 2020
Genetics of tuberous sclerosis complex: an update.
Marom D
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2020
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal 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
Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.
Salussolia CL et al.
Annual Review of Genomics and Human Genetics, 2019
Tuberous Sclerosis Complex Genotypes and Developmental Phenotype.
Farach LS et al.
Pediatric Neurology, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Genetic Evaluation of Common Neurocutaneous Syndromes.
Gürsoy S et al.
Pediatric Neurology, 2018
Novel and de novo mutations in pediatric refractory epilepsy.
Liu J et al.
Molecular Brain, 2018
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
Real-Time Genomic Characterization of Metastatic Pancreatic Neuroendocrine Tumors Has Prognostic Implications and Identifies Potential Germline Actionability.
Raj N et al.
Jco Precision Oncology, 2018
Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant.
Živčić-Ćosić S et al.
Croatian Medical Journal, 2017
Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.
Butler KM et al.
Pediatric Neurology, 2017
Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex.
Yu T et al.
Clinical Neurology and Neurosurgery, 2017
Genotype and brain pathology phenotype in children with tuberous sclerosis complex.
Overwater IE et al.
European Journal of Human Genetics : Ejhg, 2016
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.
Ekong R et al.
Human Mutation, 2016
Careful clinical observation continues to improve understanding of the phenotype in individuals with tuberous sclerosis complex.
Jansen AC
Developmental Medicine and Child Neurology, 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
Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.
Hoogeveen-Westerveld M et al.
Human Mutation, 2013
Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds.
Wentink M et al.
Clinical Genetics, 2012
Genotype and cognitive phenotype of patients with tuberous sclerosis complex.
van Eeghen AM et al.
European Journal of Human Genetics : Ejhg, 2012