Associated Papers
Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism.
Kim SW et al.
Genome Medicine, 2025
First Screening For Germline Variations In Exon 5 PTEN Gene and Their Contribution to Triple Negative Breast Cancer in Eastern Algeria.
Haddad S et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2025
Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.
Pinheiro M et al.
Nature Communications, 2024
Longitudinal detection of somatic mutations in the saliva of head and neck squamous cell carcinoma-affected patients: a pilot study.
Dal Secco C et al.
Frontiers in Oncology, 2024
Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer.
Serebriiskii IG et al.
Npj Genomic Medicine, 2023
Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and outcome.
Yavuz BR et al.
Npj Genomic Medicine, 2023
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
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Insulin-like Growth Factor 1 Signaling in Mammalian Hearing.
García-Mato Á et al.
Genes, 2021
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
Genomic profile of advanced breast cancer in circulating tumour DNA.
Kingston B et al.
Nature Communications, 2021
Mutation patterns in recurrent and/or metastatic oropharyngeal squamous cell carcinomas in relation to human papillomavirus status.
Reder H et al.
Cancer Medicine, 2021
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Sivapiragasam A et al.
Cancer Medicine, 2021
De novo mutations in folate-related genes associated with common developmental disorders.
Luo T et al.
Computational and Structural Biotechnology Journal, 2021
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
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
Mighell TL et al.
American Journal of Human Genetics, 2018
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
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
O'Roak BJ et al.
Nature Communications, 2014
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
Rodríguez-Escudero I et al.
Human Molecular Genetics, 2011
Association of sporadic breast cancer with PTEN/MMAC1/TEP1 promoter hypermethylation.
Sadeq V et al.
Medical Oncology (northwood, London, England), 2011
The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.
Stehr H et al.
Molecular Cancer, 2011
Pharmacogenomic profiling of the PI3K/PTEN pathway in sporadic breast cancer.
Nassiri I et al.
Iranian Biomedical Journal, 2009
PTEN mutations in malignant gliomas and their relation with meningeal gliomatosis.
Izumoto S et al.
Journal of Neuro-oncology, 2001