Associated Papers
Ophthalmological manifestations in a cohort of Cowden syndrome patients in a large tertiary healthcare system.
Baroutis KG et al.
Eye (london, England), 2025
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
Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.
Shah SM et al.
Cancer Research Communications, 2024
Targeting PTEN Regulation by Post Translational Modifications.
González-García A et al.
Cancers, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
PTEN Dual Lipid- and Protein-Phosphatase Function in Tumor Progression.
Liu A et al.
Cancers, 2022
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
"Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)".
Tuli G et al.
Endocrine, 2021
A Genome-Wide Profiling of Glioma Patients with an IDH1 Mutation Using the Catalogue of Somatic Mutations in Cancer Database.
Pappula AL et al.
Cancers, 2021
Identification of the Prognostic Signatures of Glioma With Different PTEN Status.
Zhang P et al.
Frontiers in Oncology, 2021
Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.
Li Z et al.
Clinical and Translational Medicine, 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
PTEN arginine methylation by PRMT6 suppresses PI3K-AKT signaling and modulates pre-mRNA splicing.
Feng J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Clinically Actionable Insights into Initial and Matched Recurrent Glioblastomas to Inform Novel Treatment Approaches.
Ellis HP et al.
Journal of Oncology, 2019
Use of dedicated gene panel sequencing using next generation sequencing to improve the personalized care of lung cancer.
Kaderbhai CG et al.
Oncotarget, 2016
Tumor suppressor PTEN in breast cancer: heterozygosity, mutations and protein expression.
Kechagioglou P et al.
Anticancer Research, 2014
Systematic analysis of somatic mutations in phosphorylation signaling predicts novel cancer drivers.
Reimand J et al.
Molecular Systems Biology, 2013
Predicting the functional impact of protein mutations: application to cancer genomics.
Reva B et al.
Nucleic Acids Research, 2011
The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.
Stehr H et al.
Molecular Cancer, 2011