Associated Papers
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
Cancer and disease profiles for PTEN pathogenic variants in Japanese population.
Kanazashi Y et al.
Journal of Human Genetics, 2025
39663357 (PubMed )
Supplement: 10038_2024_1311_MOESM1_ESM.xlsx › Table_S9
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
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
36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST15-PS1_PM5_hypothethical_vars
Genomic profile of advanced breast cancer in circulating tumour DNA.
Kingston B et al.
Nature Communications, 2021
33893289 (PubMed )
Supplement: 41467_2021_22605_MOESM4_ESM.xlsx › SNVs_Indels
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
31232187 (PubMed )
Supplement: supplement_1.zip › Supplement_S5_increase_aggreg_analysis.xlsx › Hydrophob._miss_trunc_ins_dels
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
33237934 (PubMed )
Supplement: pone.0242793.s003.xlsx › Sheet1
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM2_ESM.xlsx › supplementary_2_filtered
Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.
Wang J et al.
Plos One, 2014
25372392 (PubMed )
Supplement: pone.0111694.s006.pdf
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.
Tan WH et al.
Journal of Medical Genetics, 2007
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