Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism.
Kim SW et al.
Genome Medicine, 2025
Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis.
Vilela J et al.
Biomedicines, 2023
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
A scalable Drosophila assay for clinical interpretation of human PTEN variants in suppression of PI3K/AKT induced cellular proliferation.
Ganguly P et al.
Plos Genetics, 2021
De novo mutations in folate-related genes associated with common developmental disorders.
Luo T et al.
Computational and Structural Biotechnology Journal, 2021
De novo missense variants disrupting protein-protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types.
Chen S et al.
Molecular Autism, 2020
A Premalignant Cell-Based Model for Functionalization and Classification of PTEN Variants.
Chao JT et al.
Cancer Research, 2020
Analyzing aggregation propensities of clinically relevant PTEN mutants: a new culprit in pathogenesis of cancer and other PTENopathies.
Palumbo E et al.
Journal of Biomolecular Structure & Dynamics, 2020
Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.
Post KL et al.
Nature Communications, 2020
PTEN in Autism and Neurodevelopmental Disorders.
Rademacher S et al.
Cold Spring Harbor Perspectives in Medicine, 2019
PTEN gene mutations in patients with macrocephaly and classic autism: A systematic review.
Zahedi Abghari F et al.
Medical Journal of the Islamic Republic of Iran, 2019
Systematic reconstruction of autism biology from massive genetic mutation profiles.
Luo W et al.
Science Advances, 2018
Prediction of functionally significant single nucleotide polymorphisms in PTEN tumor suppressor gene: An in silico approach.
Khan I et al.
Biotechnology and Applied Biochemistry, 2017
Prevalence of four Mendelian disorders associated with autism in 2392 affected families.
Saskin A et al.
Journal of Human Genetics, 2017
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Wang T et al.
Nature Communications, 2016
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
Spinelli L et al.
Journal of Medical Genetics, 2015
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
O'Roak BJ et al.
Nature Communications, 2014
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
O'Roak BJ et al.
Science (new York, N.y.), 2012
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
O'Roak BJ et al.
Nature, 2012