Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing

Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations

(2015) Mark Nellist et al.   BMC Medical Genetics

A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex

(2014) M. E. Tyburczy et al.   HUMAN MOLECULAR GENETICS

Tuberous sclerosis complex without tubers and subependymal nodules: a phenotype-genotype study

(2013) S. Boronat et al.   CLINICAL GENETICS

Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex

(2013) M. E. Tyburczy et al.   HUMAN MOLECULAR GENETICS

Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

(2013) Hope Northrup et al.   PEDIATRIC NEUROLOGY

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex

(2010) Wei Qin et al.   HUMAN GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Distinct clinical characteristics of Tuberous Sclerosis Complex patients with no mutation identified

(2009) S. E. Camposano et al.   ANNALS OF HUMAN GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols