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

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis

(2012) Ghayda M. Mirzaa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

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

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

(2012) Annapurna Poduri et al.   NEURON

Akt signalling in health and disease

(2011) Ingeborg Hers et al.   CELLULAR SIGNALLING

A proposal for classification of entities combining vascular malformations and deregulated growth

(2011) Charlène E.U. Oduber et al.   European Journal of Medical Genetics

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44

(2011) Blake C. Ballif et al.   HUMAN GENETICS

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

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

An Activating Mutation of AKT2 and Human Hypoglycemia

(2011) K. Hussain et al.   SCIENCE

High Frequency of PIK3R1 and PIK3R2 Mutations in Endometrial Cancer Elucidates a Novel Mechanism for Regulation of PTEN Protein Stability

(2011) Lydia W.T. Cheung et al.   Cancer Discovery

A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice

(2010) S. Tokuda et al.   HUMAN MOLECULAR GENETICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

(2010) Gregory M Cooper et al.   NATURE METHODS

Rate, molecular spectrum, and consequences of human mutation

(2010) M. Lynch   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes

(2009) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Somatic Mutations in p85α Promote Tumorigenesis through Class IA PI3K Activation

(2009) Bijay S. Jaiswal et al.   CANCER CELL

PIK3CA Cooperates with Other Phosphatidylinositol 3'-Kinase Pathway Mutations to Effect Oncogenic Transformation

(2008) K. Oda et al.   CANCER RESEARCH

UGT1A7 haplotype is associated with an increased risk of hepatocellular carcinoma in hepatitis B carriers

(2008) Sun-Young Kong et al.   CANCER SCIENCE

Comprehensive genomic characterization defines human glioblastoma genes and core pathways

(2008) Roger McLendon et al.   NATURE

Targeting phosphoinositide 3-kinase—Moving towards therapy

(2007) Romina Marone et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS