Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

(2020) F. Kyle Satterstrom et al.   CELL

Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort

(2019) D. Benjamin Callaghan et al.   CLINICAL GENETICS

Pten loss results in inappropriate excitatory connectivity

(2019) Patrick D. Skelton et al.   MOLECULAR PSYCHIATRY

VariCarta: A Comprehensive Database of Harmonized Genomic Variants Found in Autism Spectrum Disorder Sequencing Studies

(2019) Manuel Belmadani et al.   Autism Research

A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships

(2018) Taylor L. Mighell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dynamics and structural stability effects of germline PTEN mutations associated with cancer versus autism phenotypes

(2018) Iris Nira Smith et al.   JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS

Multiplex assessment of protein variant abundance by massively parallel sequencing

(2018) Kenneth A. Matreyek et al.   NATURE GENETICS

PTEN suppresses axon outgrowth by down-regulating the level of detyrosinated microtubules

(2018) Christina Kath et al.   PLoS One

Control of vacuole membrane homeostasis by a resident PI-3,5-kinase inhibitor

(2018) PC Malia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PTEN lipid phosphatase inactivation links the hippo and PI3K/Akt pathways to induce gastric tumorigenesis

(2018) Wenting Xu et al.   JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

(2018) Jessica L. Mester et al.   HUMAN MUTATION

COSMIC: the Catalogue Of Somatic Mutations In Cancer

(2018) John G Tate et al.   NUCLEIC ACIDS RESEARCH

A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children

(2017) Emily Hansen-Kiss et al.   JOURNAL OF MEDICAL GENETICS

lmerTest Package: Tests in Linear Mixed Effects Models

(2017) Alexandra Kuznetsova et al.   Journal of Statistical Software

Sensory processing in autism spectrum disorders and Fragile X syndrome—From the clinic to animal models

(2017) D. Sinclair et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Nuclear Excluded Autism-Associated Phosphatase and Tensin Homolog Mutations Dysregulate Neuronal Growth

(2017) Catherine J. Fricano-Kugler et al.   BIOLOGICAL PSYCHIATRY

The ExAC browser: displaying reference data information from over 60 000 exomes

(2016) Konrad J. Karczewski et al.   NUCLEIC ACIDS RESEARCH

Better prediction of functional effects for sequence variants

(2015) Maximilian Hecht et al.   BMC GENOMICS

The I-BAR protein Ivy1 is an effector of the Rab7 GTPase Ypt7 involved in vacuole membrane homeostasis

(2015) J. Numrich et al.   JOURNAL OF CELL SCIENCE

Hyperactivity of Newborn Pten Knock-out Neurons Results from Increased Excitatory Synaptic Drive

(2015) M. R. Williams et al.   JOURNAL OF NEUROSCIENCE

C. elegans as a model to study PTEN’s regulation and function

(2015) Jun Liu et al.   METHODS

PTEN: A yin-yang master regulator protein in health and disease

(2015) Rafael Pulido   METHODS

PTEN Functions by Recruitment to Cytoplasmic Vesicles

(2015) Adam Naguib et al.   MOLECULAR CELL

TransVar: a multilevel variant annotator for precision genomics

(2015) Wanding Zhou et al.   NATURE METHODS

Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders

(2015) Sacha B. Nelson et al.   NEURON

Discovery and functional characterization of a neomorphic PTEN mutation

(2015) Helio A. Costa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cancer-Associated PTEN Mutants Act in a Dominant-Negative Manner to Suppress PTEN Protein Function

(2014) Antonella Papa et al.   CELL

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Balony: a software package for analysis of data generated by synthetic genetic array experiments

(2013) Barry P Young et al.   BMC BIOINFORMATICS

A versatile platform for creating a comprehensive UAS-ORFeome library in Drosophila

(2013) J. Bischof et al.   DEVELOPMENT

SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)

(2013) Brett S Abrahams et al.   Molecular Autism

Functional analysis of the protein phosphatase activity of PTEN

(2012) Xiaoqun Catherine Zhang et al.   BIOCHEMICAL JOURNAL

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

A high-sugar diet produces obesity and insulin resistance in wild-type Drosophila

(2011) L. Palanker Musselman et al.   Disease Models & Mechanisms

High-throughput behavioral analysis in C. elegans

(2011) Nicholas A Swierczek et al.   NATURE METHODS

Reversal of Salt Preference Is Directed by the Insulin/PI3K and Gq/PKC Signaling in Caenorhabditis elegans

(2010) T. Adachi et al.   GENETICS

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

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

Suppression of cellular proliferation and invasion by the concerted lipid and protein phosphatase activities of PTEN

(2009) L Davidson et al.   ONCOGENE

Phosphorylation keeps PTEN phosphatase closed for business

(2009) A. H. Ross et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deletion of Drosophila insulin-like peptides causes growth defects and metabolic abnormalities

(2009) H. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA