Associated Papers
Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.
Munch AK et al.
Cancers, 2025
Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.
Pinheiro M et al.
Nature Communications, 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 development of a custom RNA-sequencing panel for the identification of predictive and diagnostic biomarkers in glioma.
Shirai Y et al.
Journal of Neuro-oncology, 2024
Comparison of immunohistochemistry and next-generation sequencing results in oncogenic PTEN missense mutations.
Kim M et al.
Pathology, Research and Practice, 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
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 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
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
Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression.
Mota A et al.
Oncogene, 2022
A PTEN variant uncouples longevity from impaired fitness in Caenorhabditis elegans with reduced insulin/IGF-1 signaling.
Park HH et al.
Nature Communications, 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
Comprehensive characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment.
Sun H et al.
Nature Communications, 2021
Comparative Analysis of Genetic Alterations, HPV-Status, and PD-L1 Expression in Neuroendocrine Carcinomas of the Cervix.
Takayanagi D et al.
Cancers, 2021
Distinguishing between PTEN clinical phenotypes through mutation analysis.
Portelli S et al.
Computational and Structural Biotechnology Journal, 2021
Identification of the Prognostic Signatures of Glioma With Different PTEN Status.
Zhang P et al.
Frontiers in Oncology, 2021
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Olafsson S et al.
Cell, 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
Predicting the Disease Risk of Protein Mutation Sequences With Pre-training Model.
Li K et al.
Frontiers in Genetics, 2020
Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.
Manca A et al.
Journal of Translational Medicine, 2019
Clinically Actionable Insights into Initial and Matched Recurrent Glioblastomas to Inform Novel Treatment Approaches.
Ellis HP et al.
Journal of Oncology, 2019
Drug-sensitive FGFR3 mutations in lung adenocarcinoma.
Chandrani P et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2017
Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.
Yeung KS et al.
Molecular Autism, 2017
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
Spinelli L et al.
Journal of Medical Genetics, 2015
A new insight into structural and functional impact of single-nucleotide polymorphisms in PTEN gene.
George Priya Doss C et al.
Cell Biochemistry and Biophysics, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes.
Mehenni H et al.
Human Molecular Genetics, 2005
Molecular dimensions of gastrointestinal tumors: some thoughts for digestion.
Cohen MM
American Journal of Medical Genetics. Part A, 2003
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
Marsh DJ et al.
Human Molecular Genetics, 1999
Molecular profiling-based decision for targeted therapies in IDH wild-type glioblastoma.
Kessler T et al.
Neuro-oncology Advances, 0