Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations

Accurate detection of subclonal single nucleotide variants in whole genome amplified and pooled cancer samples using HaloPlex target enrichment

(2013) Eva C Berglund et al.   BMC GENOMICS

The Genome of the Netherlands: design, and project goals

(2013) Dorret I Boomsma et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Signal integration by mTORC1 coordinates nutrient input with biosynthetic output

(2013) Christian C. Dibble et al.   NATURE CELL BIOLOGY

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

(2013) Hope Northrup et al.   PEDIATRIC NEUROLOGY

mTOR Signaling in Growth Control and Disease

(2012) Mathieu Laplante et al.   CELL

Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial

(2012) David Neal Franz et al.   LANCET

Identification and Regulation of c-Myb Target Genes in MCF-7 Cells

(2011) Anita M Quintana et al.   BMC CANCER

Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

(2010) Ans M W van den Ouweland et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

(2010) Heather C. Mefford et al.   PLoS Genetics

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

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS