Associated Papers
Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" Cohort.
Chung CWT et al.
Molecular Genetics & Genomic Medicine, 2024
SpliceVault predicts the precise nature of variant-associated mis-splicing.
Dawes R et al.
Nature Genetics, 2023
36747048 (PubMed )
Supplement: 41588_2022_1293_MOESM16_ESM.xlsx › Ours_RNA
Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia.
Di Nardo A et al.
Cell Reports, 2020
32579942 (PubMed )
Supplement: NIHMS1607413-supplement-3.xlsx › Table_S2
First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.
Reyna-Fabián ME et al.
Scientific Reports, 2020
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
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