Associated Papers
Specification of frequency criteria for secondary findings genes to improve variant classification concordance.
Johnston JJ et al.
Biorxiv : the Preprint Server for Biology, 2025
41000626 (PubMed )
Supplement: media-1.xlsx › Table_S1_Data_and_Reference
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 › Uni__germline__n__170
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
Comprehensive genomic profile of Chinese lung cancer patients and mutation characteristics of individuals resistant to icotinib/gefitinib.
Shang Y et al.
Scientific Reports, 2020
A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.
Eloy P et al.
Plos Genetics, 2016
High resolution SNP array profiling identifies variability in retinoblastoma genome stability.
Mol BM et al.
Genes, Chromosomes & Cancer, 2014
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