Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development

The role of mTOR signalling in neurogenesis, insights from tuberous sclerosis complex

(2016) Andrew R. Tee et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

PEComa: morphology and genetics of a complex tumor family

(2015) Khin Thway et al.   Annals of Diagnostic Pathology

When One Mutation Is All It Takes

(2015) Mel Greaves   CANCER CELL

The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias

(2015) Anna K Andersson et al.   NATURE GENETICS

Everolimus for renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis: extension of a randomized controlled trial

(2015) John J. Bissler et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist

(2015) Petrus J. de Vries et al.   PEDIATRIC NEUROLOGY

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

(2015) Magdalena E. Tyburczy et al.   PLoS Genetics

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient

(2014) Denise Emmerich et al.   EUROPEAN JOURNAL OF HUMAN 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

C11orf95–RELA fusions drive oncogenic NF-κB signalling in ependymoma

(2014) Matthew Parker et al.   NATURE

Discovery and saturation analysis of cancer genes across 21 tumour types

(2014) Michael S. Lawrence et al.   NATURE

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

A Central Role for mTOR in Lipid Homeostasis

(2013) Dudley W. Lamming et al.   Cell Metabolism

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

(2013) Kristian Cibulskis et al.   NATURE BIOTECHNOLOGY

Signal integration by mTORC1 coordinates nutrient input with biosynthetic output

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

WEB-based GEne SeT AnaLysis Toolkit (WebGestalt): update 2013

(2013) Jing Wang et al.   NUCLEIC ACIDS RESEARCH

Cancer Genome Landscapes

(2013) B. Vogelstein et al.   SCIENCE

Lymphangioleiomyomatosis — a wolf in sheep’s clothing

(2012) Elizabeth P. Henske et al.   JOURNAL OF CLINICAL INVESTIGATION

A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers

(2012) Ryan S. Lee et al.   JOURNAL OF CLINICAL INVESTIGATION

Absolute quantification of somatic DNA alterations in human cancer

(2012) Scott L Carter et al.   NATURE BIOTECHNOLOGY

The cBio Cancer Genomics Portal: An Open Platform for Exploring Multidimensional Cancer Genomics Data: Figure 1.

(2012) Ethan Cerami et al.   Cancer Discovery

Initial genome sequencing and analysis of multiple myeloma

(2011) Michael A. Chapman et al.   NATURE

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

Phenotypic Characterization of Disseminated Cells withTSC2Loss of Heterozygosity in Patients with Lymphangioleiomyomatosis

(2010) Xiong Cai et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

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

(2010) A. McKenna et al.   GENOME RESEARCH

Lymphangioleiomyomatosis: Cause of a Malignant Chylous Pleural Effusion

(2009) Izabela Malinowska-Kolodziej et al.   JOURNAL OF CLINICAL ONCOLOGY

COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer

(2009) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

The HECT Domain of TRIP12 Ubiquitinates Substrates of the Ubiquitin Fusion Degradation Pathway

(2008) Yoon Park et al.   JOURNAL OF BIOLOGICAL CHEMISTRY