Associated Papers
Elucidating PTEN conformational dynamics and phosphatase regulation via integrative modeling and mutation prediction.
Dawson JE et al.
Structure (london, England : 1993), 2025
Machine Learning and Structural Dynamics-Based Approach to Reveal Molecular Mechanism of PTEN Missense Mutations Shared by Cancer and Autism Spectrum Disorder.
Yang M et al.
Journal of Chemical Information and Modeling, 2025
Small SNPs, Big Effects: A Review of Single Nucleotide Variations and Polymorphisms in Key Genes Associated With Autism Spectrum Disorder.
Srinath S et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025
Decoding Mechanisms of PTEN Missense Mutations in Cancer and Autism Spectrum Disorder using Interpretable Machine Learning Approaches.
Yang M et al.
Biorxiv : the Preprint Server for Biology, 2025
Classification of PTEN germline non-truncating variants: a new approach to interpretation.
Margot H et al.
Journal of Medical Genetics, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
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
Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.
Kleo K et al.
Journal of Cancer Research and Clinical Oncology, 2023
Preclinical Study of a Biparatopic METxMET Antibody-Drug Conjugate, REGN5093-M114, Overcomes MET-driven Acquired Resistance to EGFR TKIs in EGFR-mutant NSCLC.
Oh SY et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.
Gutierrez-Rodrigues F et al.
Haematologica, 2022
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
Wagener R et al.
European Journal of Human Genetics : Ejhg, 2021
Next-generation sequencing-based identification of EGFR and NOTCH2 complementary mutations in non-small cell lung cancer.
Niu L et al.
Oncology Letters, 2021
Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.
Kaymakcalan H et al.
Molecular Genetics & Genomic Medicine, 2021
Clinically Advanced Pheochromocytomas and Paragangliomas: A Comprehensive Genomic Profiling Study.
Bratslavsky G et al.
Cancers, 2021
Diagnostic and Prognostic Value of Circulating Cell-Free DNA for Cholangiocarcinoma.
Wintachai P et al.
Diagnostics (basel, Switzerland), 2021
The Frequency of Discordant Variant Classification in the Human Gene Mutation Database: A Comparison of the American College of Medical Genetics and Genomics Guidelines and ClinVar.
Park KJ et al.
Laboratory Medicine, 2021
Distinguishing between PTEN clinical phenotypes through mutation analysis.
Portelli S et al.
Computational and Structural Biotechnology Journal, 2021
Germline PTEN mutations are associated with a skewed peripheral immune repertoire in humans and mice.
Jaini R et al.
Human Molecular Genetics, 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
Correlation of genetic alterations by whole-exome sequencing with clinical outcomes of glioblastoma patients from the Lebanese population.
Saadeh FS et al.
Plos One, 2020
Predicting the Disease Risk of Protein Mutation Sequences With Pre-training Model.
Li K et al.
Frontiers in Genetics, 2020
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Aspromonte MC et al.
Human Mutation, 2019
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Tsaousis GN et al.
Bmc Cancer, 2019
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Surrey LF et al.
Genome Medicine, 2019
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
The effects of genomic germline variant reclassification on clinical cancer care.
Slavin TP et al.
Oncotarget, 2019
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
Mester JL et al.
Human Mutation, 2018
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
Momozawa Y et al.
Nature Communications, 2018
Multiplex assessment of protein variant abundance by massively parallel sequencing.
Matreyek KA et al.
Nature Genetics, 2018
Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.
Dominguez-Valentin M et al.
Hereditary Cancer in Clinical Practice, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 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
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017