Associated Papers
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
Classification of PTEN germline non-truncating variants: a new approach to interpretation.
Margot H et al.
Journal of Medical Genetics, 2024
Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.
Pinheiro M et al.
Nature Communications, 2024
On the Boundary of Exploratory Genomics and Translation in Sequential Glioblastoma.
Tompa M et al.
International Journal of Molecular Sciences, 2024
Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.
Rosenberg S et al.
Molecular Oncology, 2023
Pan-cancer molecular analysis of EGFR large fragment deletion in the Asian population.
Pu J et al.
Cancer Medicine, 2023
Nuclear PTEN's Functions in Suppressing Tumorigenesis: Implications for Rare Cancers.
Langdon CG
Biomolecules, 2023
Novel anti-PTEN C2 domain monoclonal antibodies to analyse the expression and function of PTEN isoform variants.
Torices L et al.
Plos One, 2023
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R et al.
Human Mutation, 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
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers.
Serebriiskii IG et al.
Nature Communications, 2022
RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data.
Long Q et al.
Frontiers in Genetics, 2022
Gene Expression and Mutational Profile in BAP-1 Inactivated Melanocytic Lesions of Progressive Malignancy from a Patient with Multiple Lesions.
Zhou Y et al.
Genes, 2021
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Rowlands C et al.
Scientific Reports, 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
Topographic correlates of driver mutations and endogenous gene expression in pediatric diffuse midline gliomas and hemispheric high-grade gliomas.
Kazarian E et al.
Scientific Reports, 2021
Mutation-specific non-canonical pathway of PTEN as a distinct therapeutic target for glioblastoma.
Choi SW et al.
Cell Death & Disease, 2021
Identification of the Prognostic Signatures of Glioma With Different PTEN Status.
Zhang P et al.
Frontiers in Oncology, 2021
Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.
Miller EM et al.
Bmc Medical Genomics, 2020
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Olafsson S et al.
Cell, 2020
Genome analysis of peeling archival cytology samples detects driver mutations in lung cancer.
Kunimasa K et al.
Cancer Medicine, 2020
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Sphere-Forming Culture for Expanding Genetically Distinct Patient-Derived Glioma Stem Cells by Cellular Growth Rate Screening.
Shin K et al.
Cancers, 2020
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
Sequencing and curation strategies for identifying candidate glioblastoma treatments.
Frank MO et al.
Bmc Medical Genomics, 2019
Clinically Actionable Insights into Initial and Matched Recurrent Glioblastomas to Inform Novel Treatment Approaches.
Ellis HP et al.
Journal of Oncology, 2019
Characterization of PTEN mutations in brain cancer reveals that pten mono-ubiquitination promotes protein stability and nuclear localization.
Yang JM et al.
Oncogene, 2017
Mutational analysis of multiple lung cancers: Discrimination between primary and metastatic lung cancers by genomic profile.
Goto T et al.
Oncotarget, 2017
Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome.
Busa T et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2015
Mutational landscape and significance across 12 major cancer types.
Kandoth C et al.
Nature, 2013