Associated Papers
A Copernican revolution of multigenic analysis: A retrospective study on clinical exome sequencing in unclear genetic disorders.
Chetta M et al.
Computational and Structural Biotechnology Journal, 2024
Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.
Wang S et al.
Journal of Cellular and Molecular Medicine, 2024
Homologous recombination deficiency gene panel analysis results in synchronous endometrial and ovarian cancers.
Kazanci F et al.
Revista Da Associacao Medica Brasileira (1992), 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
Multigene testing panels reveal pathogenic variants in sporadic breast cancer patients in northern China.
Liu Y et al.
Frontiers in Genetics, 2023
Assessment of aggressive bladder cancer mutations in plasma cell-free DNA.
Carrasco R et al.
Frontiers in Oncology, 2023
Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.
Gan M et al.
Cancer Medicine, 2022
Prognostic implication of TERT promoter mutation and circulating tumor cells in muscle-invasive bladder cancer.
Carrasco R et al.
World Journal of Urology, 2022
A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia.
Goktas S et al.
Journal of Pediatric Hematology/oncology, 2022
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.
Akolkar D et al.
Plos One, 2021
TRIM28 congenital predisposition to Wilms' tumor: novel mutations and presentation in a sibling pair.
Moore C et al.
Cold Spring Harbor Molecular Case Studies, 2020
Circulating DNA as prognostic biomarker in patients with advanced hepatocellular carcinoma: a translational exploratory study from the SORAMIC trial.
Alunni-Fabbroni M et al.
Journal of Translational Medicine, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.
Renault AL et al.
Breast Cancer Research : Bcr, 2018
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
LaDuca H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014