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
An overview of RB1 transcript alterations detected during retinoblastoma genetic screening.
Price EA et al.
Ophthalmic Genetics, 2024
Evolutionary Trajectories of Primary and Metastatic Pancreatic Neuroendocrine Tumors Based on Genomic Variations.
Xu M et al.
Genes, 2022
Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.
Rojanaporn D et al.
Translational Vision Science & Technology, 2022
36173648 (PubMed )
Supplement: tvst-11-9-30_s001.xlsx › Bilat__germline__n__938
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › RB1
Retinoblastoma genetics screening and clinical management.
Gupta H et al.
Bmc Medical Genomics, 2021
RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report.
Gelli E et al.
Frontiers in Oncology, 2020
DNA-Repair Gene Mutations Are Highly Prevalent in Circulating Tumour DNA from Multiple Myeloma Patients.
Mithraprabhu S et al.
Cancers, 2019
31261969 (PubMed )
Supplement: cancers-11-00917-s001.xlsx › TAS_results_n_36__31_RR__5_ND_
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.
Vogelaar IP et al.
European Journal of Human Genetics : Ejhg, 2017
28875981 (PubMed )
Supplement: ejhg2017138x4.xlsx › Suppl_Table_4
Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene.
Nichols KE et al.
Human Mutation, 2005
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