Associated Papers
Mosaicism and intronic variants in RB1 gene revealed by next generation sequencing in a cohort of Spanish retinoblastoma patients.
Gomez-Mariano G et al.
Experimental Eye Research, 2025
Single-cell DNA and surface protein characterization of high hyperdiploid acute lymphoblastic leukemia at diagnosis and during treatment.
Aertgeerts M et al.
Hemasphere, 2025
39944233 (PubMed )
Supplement: HEM3-9-e70085-s002.xlsx › XG111.D0_XEM_variants
An overview of RB1 transcript alterations detected during retinoblastoma genetic screening.
Price EA et al.
Ophthalmic Genetics, 2024
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
Identification of novel RB1 genetic variants in Retinoblastoma patients and their impact on clinical outcome.
Manukonda R et al.
Ophthalmic Genetics, 2022
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
33674644 (PubMed )
Supplement: 41598_2021_84502_MOESM2_ESM.xlsx › S10_All_Variants
The RB1 Mutation Spectrum and Genetic Management Consultation in Pediatric Patients with Retinoblastoma in Beijing, China.
Xie Y et al.
Risk Management and Healthcare Policy, 2021
Integrative genomic and transcriptomic analysis of leiomyosarcoma.
Chudasama P et al.
Nature Communications, 2018
29321523 (PubMed )
Supplement: 41467_2017_2602_MOESM4_ESM.xlsx › 5_Somatic_indels
Mutational screening of germline RB1 gene in Vietnamese patients with retinoblastoma reveals three novel mutations.
Nguyen HH et al.
Molecular Vision, 2018
Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma.
Sánchez-Sánchez F et al.
Human Mutation, 2007
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