Associated Papers
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
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › PTEN
Case report: Rare oral manifestations in Cowden syndrome with PTEN mutation.
Yuan W 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
38001126 (PubMed )
Supplement: 41525_2023_384_MOESM1_ESM.xlsx › Table_S6
Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and outcome.
Yavuz BR et al.
Npj Genomic Medicine, 2023
Classification of PTEN missense VUS through exascale simulations.
Sinha S et al.
Briefings in Bioinformatics, 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
36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST11-PTEN
Clinical utility of liquid biopsy and integrative genomic profiling in early-stage and oligometastatic cancer patients treated with radiotherapy.
Cifuentes GA et al.
British Journal of Cancer, 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
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › PTEN
Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers.
Serebriiskii IG et al.
Nature Communications, 2022
35338148 (PubMed )
Supplement: 41467_2022_29227_MOESM6_ESM.xlsx › Supplemenraty_Data_3
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
34492006 (PubMed )
Supplement: pgen.1009774.s009.xlsx › Batch_1
Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.
Zhang J et al.
Frontiers in Oncology, 2021
35087742 (PubMed )
Supplement: Table_1.xlsx › Table3_mut_frequency_v3
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_S4_mutants_nochange.xlsx › Mutants_no_change
Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.
Post KL et al.
Nature Communications, 2020
Predicting the Disease Risk of Protein Mutation Sequences With Pre-training Model.
Li K et al.
Frontiers in Genetics, 2020
33408741 (PubMed )
Supplement: Table_3.XLSX › Sheet2
A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.
Hansen-Kiss E et al.
Journal of Medical Genetics, 2017
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
O'Roak BJ et al.
Nature Communications, 2014
25418537 (PubMed )
Supplement: NIHMS636245-supplement-2.xlsx › Sheet_1
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