Associated Papers
Clinical validation of the Ion Torrent Oncomine Myeloid Assay GX v2 on the Genexus Integrated Sequencer as a stand-alone assay for single-nucleotide variants, insertions/deletions, and fusion genes: Challenges, performance, and perspectives.
Krishnamurthy K et al.
American Journal of Clinical Pathology, 2024
Role of RB1 in neurodegenerative diseases: inhibition of post-mitotic neuronal apoptosis via Kmt5b.
Zhao S et al.
Cell Death Discovery, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.
Adamson AW et al.
Journal of Ovarian Research, 2023
Whole-Exome Sequencing and cfDNA Analysis Uncover Genetic Determinants of Melanoma Therapy Response in a Real-World Setting.
Vanni I et al.
International Journal of Molecular Sciences, 2023
Detection of disease-causing mutations in prostate cancer by NGS sequencing.
Mangolini A et al.
Cell Biology International, 2022
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
Genomic characterisation of breast fibroepithelial lesions in an international cohort.
Md Nasir ND et al.
The Journal of Pathology, 2019
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
Tumor mutational profile of triple negative breast cancer patients in Thailand revealed distinctive genetic alteration in chromatin remodeling gene.
Niyomnaitham S et al.
Peerj, 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
The diagnostic application of RNA sequencing in patients with thyroid cancer: an analysis of 851 variants and 133 fusions in 524 genes.
Pagan M et al.
Bmc Bioinformatics, 2016
RB1 gene inactivation by chromothripsis in human retinoblastoma.
McEvoy J et al.
Oncotarget, 2014
A cancer derived mutation in the retinoblastoma gene with a distinct defect for LXCXE dependent interactions.
Henley SA et al.
Cancer Cell International, 2010