Associated Papers
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
Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.
Zhang L et al.
Molecular Oncology, 2022
35971249 (PubMed )
Supplement: MOL2-16-3689-s005.xlsx › Table_S3
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TSC2
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA et al.
Jama Network Open, 2020
32347949 (PubMed )
Supplement: jamanetwopen-3-e203812-s001.pdf
Novel and de novo mutations in pediatric refractory epilepsy.
Liu J et al.
Molecular Brain, 2018
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
Bahl S et al.
Molecular Autism, 2013
23514105 (PubMed )
Supplement: 2040-2392-4-5-S5.xls › Sheet1
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
Hoogeveen-Westerveld M et al.
Human Mutation, 2011
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