Somatic Mutations in theMTORgene cause focal cortical dysplasia type IIb

Familial focal epilepsy with focal cortical dysplasia due toDEPDC5mutations

(2015) Stéphanie Baulac et al.   ANNALS OF NEUROLOGY

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia

(2015) Alissa M. D'Gama et al.   ANNALS OF NEUROLOGY

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

(2015) Laura A. Jansen et al.   BRAIN

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy

(2015) Jae Seok Lim et al.   NATURE MEDICINE

Mutations in mammalian target of rapamycin regulatorDEPDC5cause focal epilepsy with brain malformations

(2014) Ingrid E. Scheffer et al.   ANNALS OF NEUROLOGY

Pathogenetic mechanisms of focal cortical dysplasia

(2014) Isaac Marin-Valencia et al.   EPILEPSIA

A Diverse Array of Cancer-Associated MTOR Mutations Are Hyperactivating and Can Predict Rapamycin Sensitivity

(2014) B. C. Grabiner et al.   Cancer Discovery

mTOR signaling and its roles in normal and abnormal brain development

(2014) Nobuyuki Takei et al.   Frontiers in Molecular Neuroscience

mTOR kinase structure, mechanism and regulation

(2013) Haijuan Yang et al.   NATURE

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

(2013) Kristian Cibulskis et al.   NATURE BIOTECHNOLOGY

A Tumor Suppressor Complex with GAP Activity for the Rag GTPases That Signal Amino Acid Sufficiency to mTORC1

(2013) L. Bar-Peled et al.   SCIENCE

Somatic Mutation, Genomic Variation, and Neurological Disease

(2013) A. Poduri et al.   SCIENCE

Suppressed Expression of Autophagosomal Protein LC3 in Cortical Tubers of Tuberous Sclerosis Complex

(2012) Hiroaki Miyahara et al.   BRAIN PATHOLOGY

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

mTOR Signaling in Growth Control and Disease

(2012) Mathieu Laplante et al.   CELL

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

(2012) D. C. Koboldt et al.   GENOME RESEARCH

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

(2012)   NATURE

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

(2012) Jeong Ho Lee et al.   NATURE GENETICS

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

(2012) Annapurna Poduri et al.   NEURON

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

(2011) Marjorie J. Lindhurst et al.   NEW ENGLAND JOURNAL OF MEDICINE

mTOR: A pathogenic signaling pathway in developmental brain malformations

(2011) Peter B. Crino   TRENDS IN MOLECULAR MEDICINE

The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission1

(2010) Ingmar Blümcke et al.   EPILEPSIA

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

mTOR: from growth signal integration to cancer, diabetes and ageing

(2010) Roberto Zoncu et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Single amino-acid changes that confer constitutive activation of mTOR are discovered in human cancer

(2010) T Sato et al.   ONCOGENE

Focal cortical dysplasia type II: biological features and clinical perspectives

(2009) Sanjay M Sisodiya et al.   LANCET NEUROLOGY

Tenets of PTEN Tumor Suppression

(2008) Leonardo Salmena et al.   CELL

Isolation of Hyperactive Mutants of Mammalian Target of Rapamycin

(2008) Yoichiro Ohne et al.   JOURNAL OF BIOLOGICAL CHEMISTRY