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

Exonic Mutations ofTSC2/TSC1Are Common but Not Seen in All Sporadic Pulmonary Lymphangioleiomyomatosis

(2013) Kameswara Rao Badri et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Recognition of Tuberous Sclerosis in Adult Women: Delayed Presentation With Life-Threatening Consequences

(2013) Diane Seibert et al.   ANNALS OF INTERNAL MEDICINE

The Mechanisms of UV Mutagenesis

(2011) Hironobu IKEHATA et al.   JOURNAL OF RADIATION RESEARCH

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Angiomyolipoma Have Common Mutations in TSC2 but No Other Common Genetic Events

(2011) Wei Qin et al.   PLoS One

Human TSC2-null fibroblast-like cells induce hair follicle neogenesis and hamartoma morphogenesis

(2011) Shaowei Li et al.   Nature Communications

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

Lymphangioleiomyomatosis (LAM): Molecular insights lead to targeted therapies

(2010) Connie G. Glasgow et al.   RESPIRATORY MEDICINE

Inherited Susceptibility to Common Cancers

(2008) William D. Foulkes   NEW ENGLAND JOURNAL OF MEDICINE