Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia

(2015) Mark Nellist et al.   MOLECULAR GENETICS AND METABOLISM

Megalencephaly and hemimegalencephaly: Breakthroughs in molecular etiology

(2014) Ghayda M. Mirzaa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

CODOC: efficient access, analysis and compression of depth of coverage signals

(2014) Niko Popitsch   BIOINFORMATICS

The usefulness of whole-exome sequencing in routine clinical practice

(2014) Alejandro Iglesias et al.   GENETICS IN MEDICINE

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

(2014) K. J. Carss et al.   HUMAN MOLECULAR GENETICS

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Pharmacological and Genetic Targeting of the PI4KA Enzyme Reveals Its Important Role in Maintaining Plasma Membrane Phosphatidylinositol 4-Phosphate and Phosphatidylinositol 4,5-Bisphosphate Levels

(2014) Naveen Bojjireddy et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

PI4KIII  is required for cortical integrity and cell polarity during Drosophila oogenesis

(2014) J. Tan et al.   JOURNAL OF CELL SCIENCE

Whole-genome sequence variation, population structure and demographic history of the Dutch population

(2014) Laurent C Francioli et al.   NATURE GENETICS

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

(2014) Andy Rimmer et al.   NATURE GENETICS

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

(2014) S. Baulac et al.   NEUROLOGY

Structures of PI4KIII  complexes show simultaneous recruitment of Rab11 and its effectors

(2014) J. E. Burke et al.   SCIENCE

Biological Effects of COMT Haplotypes and Psychosis Risk in 22q11.2 Deletion Syndrome

(2013) Doron Gothelf et al.   BIOLOGICAL PSYCHIATRY

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria

(2013) Stéphanie Valence et al.   NEUROGENETICS

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Phosphoinositides: Tiny Lipids With Giant Impact on Cell Regulation

(2013) Tamas Balla   PHYSIOLOGICAL REVIEWS

Germline PIK3CA and AKT1 Mutations in Cowden and Cowden-like Syndromes

(2012) Mohammed S. Orloff et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PtdIns4P synthesis by PI4KIIIα at the plasma membrane and its impact on plasma membrane identity

(2012) Fubito Nakatsu et al.   JOURNAL OF CELL BIOLOGY

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

(2012) Donna M McDonald-McGinn et al.   JOURNAL OF MEDICAL GENETICS

Evaluation of Phosphatidylinositol-4-Kinase III  as a Hepatitis C Virus Drug Target

(2012) F. H. Vaillancourt et al.   JOURNAL OF VIROLOGY

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 homogeneous and nonisotopic assay for phosphatidylinositol 4-kinases

(2011) Andrew W. Tai et al.   ANALYTICAL BIOCHEMISTRY

Phylogenomics of phosphoinositide lipid kinases: perspectives on the evolution of second messenger signaling and drug discovery

(2011) James R Brown et al.   BMC EVOLUTIONARY BIOLOGY

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

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

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

(2010) Richard J. Leventer et al.   BRAIN

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

(2010) Elizabeth A Worthey et al.   GENETICS IN MEDICINE

Stampy: A statistical algorithm for sensitive and fast mapping of Illumina sequence reads

(2010) G. Lunter et al.   GENOME RESEARCH

The p110δ structure: mechanisms for selectivity and potency of new PI(3)K inhibitors

(2010) Alex Berndt et al.   Nature Chemical Biology

Crucial role of phosphatidylinositol 4-kinase III  in development of zebrafish pectoral fin is linked to phosphoinositide 3-kinase and FGF signaling

(2009) H. Ma et al.   JOURNAL OF CELL SCIENCE

Prenatal diagnosis of monosomy 1p36: A focus on brain abnormalities and a review of the literature

(2008) Philippe M. Campeau et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Design of Drug-Resistant Alleles of Type-III Phosphatidylinositol 4-Kinases Using Mutagenesis and Molecular Modeling†

(2008) Andras Balla et al.   BIOCHEMISTRY