Associated Papers
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
Whole-genome sequencing analysis of Japanese autism spectrum disorder trios.
Furukawa S et al.
Psychiatry and Clinical Neurosciences, 2025
Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.
Godinez-Zamora GF et al.
Frontiers in Immunology, 2025
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
Investigation of Clinically Significant Molecular Aberrations in Patients with Prostate Cancer: Implications for Personalized Treatment, Prognosis and Genetic Testing.
Fountzilas E et al.
International Journal of Molecular Sciences, 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
Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers.
Serebriiskii IG et al.
Nature Communications, 2022
IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.
Barresi V et al.
Acta Neuropathologica Communications, 2021
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
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
Genomic Database Analysis of Uterine Leiomyosarcoma Mutational Profile.
Astolfi A et al.
Cancers, 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
Role of Ubiquitination in PTEN Cellular Homeostasis and Its Implications in GB Drug Resistance.
Xia Q et al.
Frontiers in Oncology, 2020
Multifaceted Regulation of PTEN Subcellular Distributions and Biological Functions.
Liu T et al.
Cancers, 2019
A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay.
Ueno Y et al.
Human Genome Variation, 2019
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
Temko D et al.
The Journal of Pathology, 2018
Renal Cell Carcinoma: Molecular Aspects.
Kumar A et al.
Indian Journal of Clinical Biochemistry : Ijcb, 2018
Characterization of PTEN mutations in brain cancer reveals that pten mono-ubiquitination promotes protein stability and nuclear localization.
Yang JM et al.
Oncogene, 2017
Wide spetcrum mutational analysis of metastatic renal cell cancer: a retrospective next generation sequencing approach.
Fiorentino M et al.
Oncotarget, 2017