Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism

Cytoplasmic-predominant Pten increases microglial activation and synaptic pruning in a murine model with autism-like phenotype

(2020) Nicholas Sarn et al.   MOLECULAR PSYCHIATRY

A framework for an evidence-based gene list relevant to autism spectrum disorder

(2020) Christian P. Schaaf et al.   NATURE REVIEWS GENETICS

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

(2020) Kathryn L. Post et al.   Nature Communications

A Metabolomics Approach to Screening for Autism Risk in the Children's Autism Metabolome Project

(2020) Alan M. Smith et al.   Autism Research

Germline PTEN mutations are associated with a skewed peripheral immune repertoire in humans and mice

(2020) Ritika Jaini et al.   HUMAN MOLECULAR GENETICS

Genome-wide detection of tandem DNA repeats that are expanded in autism

(2020) Brett Trost et al.   NATURE

PTEN-opathies: from biological insights to evidence-based precision medicine

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Prevalence and Trends of Developmental Disabilities among Children in the United States: 2009–2017

(2019) Benjamin Zablotsky et al.   PEDIATRICS

Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome

(2019) Lamis Yehia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prevalence of Motor Difficulties in Autism Spectrum Disorder: Analysis of a Population‐Based Cohort

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Plasma peroxiredoxin changes and inflammatory cytokines support the involvement of neuro-inflammation and oxidative stress in Autism Spectrum Disorder

(2019) P. M. Abruzzo et al.   Journal of Translational Medicine

Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN

(2019) Robyn M. Busch et al.   Translational Psychiatry

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

Abnormal mTOR Activation in Autism

(2018) Kellen D. Winden et al.   Annual Review of Neuroscience

A certain role of SOD/CAT imbalance in pathogenesis of autism spectrum disorders

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Multiplex assessment of protein variant abundance by massively parallel sequencing

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

Communicating complex genomic information: A counselling approach derived from research experience with Autism Spectrum Disorder

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The Emerging Clinical Neuroscience of Autism Spectrum Disorder

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Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience

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

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Toward a conceptual framework for early brain and behavior development in autism

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(2017) Heather Cody Hazlett et al.   NATURE

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

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Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

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Neural transcriptome of constitutional Pten dysfunction in mice and its relevance to human idiopathic autism spectrum disorder

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Balancing Proliferation and Connectivity in PTEN-associated Autism Spectrum Disorder

(2015) Amanda K. Tilot et al.   Neurotherapeutics

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

(2014) Antonella Papa et al.   CELL

Germline disruption of Pten localization causes enhanced sex-dependent social motivation and increased glial production

(2014) A. K. Tilot et al.   HUMAN MOLECULAR GENETICS

What is the difference between missing completely at random and missing at random?

(2014) Krishnan Bhaskaran et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism

(2014) T W Frazier et al.   MOLECULAR PSYCHIATRY

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

(2014) B. J. O'Roak et al.   Nature Communications

Atypical Cross Talk Between Mentalizing and Mirror Neuron Networks in Autism Spectrum Disorder

(2014) Inna Fishman et al.   JAMA Psychiatry

Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism

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Phosphorylation and degradation of S6K1 (p70S6K1) in response to persistent JNK1 Activation

(2013) Jin Zhang et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly

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Cognitive characteristics of PTEN hamartoma tumor syndromes

(2013) Robyn M. Busch et al.   GENETICS IN MEDICINE

Pten Deletion in Adult Hippocampal Neural Stem/Progenitor Cells Causes Cellular Abnormalities and Alters Neurogenesis

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De novo mutations revealed by whole-exome sequencing are strongly associated with autism

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MnSOD deficiency results in elevated oxidative stress and decreased mitochondrial function but does not lead to muscle atrophy during aging

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Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis

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A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands

(2010) Min-Han Tan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

(2010) Kim L. McBride et al.   Autism Research

A Meta-Analysis of the Corpus Callosum in Autism

(2009) Thomas W. Frazier et al.   BIOLOGICAL PSYCHIATRY

NovelPTENmutations in neurodevelopmental disorders and macrocephaly

(2009) A Orrico et al.   CLINICAL GENETICS

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly

(2009) Elizabeth A Varga et al.   GENETICS IN MEDICINE

Haploinsufficiency forPtenandSerotonin transportercooperatively influences brain size and social behavior

(2009) Damon T. Page et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Autistic Neuron: Troubled Translation?

(2008) Raymond J. Kelleher et al.   CELL

Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis

(2008) Jacqueline R. Weissman et al.   PLoS One