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
A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID.
Cesana D et al.
Nature Communications, 2024
Classification of PTEN missense VUS through exascale simulations.
Sinha S et al.
Briefings in Bioinformatics, 2023
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
Cancer risk and genotype-phenotype correlation in Japanese patients with Cowden syndrome.
Teramae S et al.
International Journal of Clinical Oncology, 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
Distinguishing between PTEN clinical phenotypes through mutation analysis.
Portelli S et al.
Computational and Structural Biotechnology Journal, 2021
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
Frequent PTEN loss and differential HER2/PI3K signaling pathway alterations in salivary duct carcinoma: Implications for targeted therapy.
Saintigny P et al.
Cancer, 2018
EGFR feedback-inhibition by Ran-binding protein 6 is disrupted in cancer.
Oldrini B et al.
Nature Communications, 2017
Kinome sequencing reveals RET G691S polymorphism in human neuroendocrine lung cancer cell lines.
Sosonkina N et al.
Genes & Genomics, 2014
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
Pilarski R et al.
Journal of Medical Genetics, 2011
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
Sarquis MS et al.
American Journal of Human Genetics, 2006
Frequent somatic mutations in PTEN and TP53 are mutually exclusive in the stroma of breast carcinomas.
Kurose K et al.
Nature Genetics, 2002