Associated Papers
Prospective implementation of an aqueous humor liquid biopsy platform informs clinical diagnosis and management of retinoblastoma and other intraocular lesions.
Kagami LAT et al.
Npj Precision Oncology, 2026
[Retinoblastoma in Argentina: study of germline variants of the RB1 gene].
Ducatelli ME et al.
Medicina, 2026
Mapping RB1 gene mutations in retinoblastoma: a study of 200 cases from North India.
Ratna R et al.
Ophthalmic Genetics, 2025
The mutational landscape of hereditary retinoblastoma and genotype-phenotype associations in Lebanon.
Assaf N et al.
Ophthalmic Genetics, 2025
Pathogenic Germline Variant Prevalence and Genetic Testing Outcomes in Patients With Urothelial Carcinoma.
Oh E et al.
Clinical Genitourinary Cancer, 2025
Phenotyping and genotyping FEVR: Molecular genetics, clinical and imaging features, and therapeutics.
Wang Y et al.
Progress in Retinal and Eye Research, 2025
Delving Into Retinoblastoma Genetics: Discovery of Novel Mutations and Their Clinical Impact: Retrospective Cohort Study.
Faranoush M et al.
Cancer Medicine, 2025
Uterine sarcoma with KAT6B/A::KANSL1 fusion: a molecular and clinicopathological study on 9 cases.
Dundr P et al.
Virchows Archiv : an International Journal of Pathology, 2025
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
Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses.
Lucas CG et al.
Neuro-oncology, 2025
Comprehensive analysis of clinical phenotype and genetic characteristics of retinoblastoma caused by RB1 gene mutation: a case series.
Fu Z et al.
American Journal of Cancer Research, 2025
RB1 CIRCULATING TUMOR DNA IN THE BLOOD OF PATIENTS WITH RETINOBLASTOMA INCREASES IN UNTREATED PATIENTS.
Silverman RF et al.
Retina (philadelphia, Pa.), 2024
Evaluation of whole genome sequencing utility in identifying driver alterations in cancer genome.
Nagashima T et al.
Scientific Reports, 2024
Aqueous Humor Liquid Biopsy as a Companion Diagnostic for Retinoblastoma: Implications for Diagnosis, Prognosis, and Therapeutic Options: Five Years of Progress.
Berry JL et al.
American Journal of Ophthalmology, 2024
An overview of RB1 transcript alterations detected during retinoblastoma genetic screening.
Price EA et al.
Ophthalmic Genetics, 2024
Impact of RB1 gene screening from blood collected on a single day from 411 family members of 113 Retinoblastoma survivors in India.
Vanniarajan A et al.
Eye (london, England), 2024
Genetic Diagnosis of Retinoblastoma Using Aqueous Humour-Findings from an Extended Cohort.
Gerrish A et al.
Cancers, 2024
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors-a nationwide, prospective Swedish study.
Tesi B et al.
The Lancet Regional Health. Europe, 2024
Establishment and Comprehensive Characterization of a Novel Preclinical Platform of Metastatic Retinoblastoma for Therapeutic Developments.
Zugbi S et al.
Investigative Ophthalmology & Visual Science, 2023
RB1 screening of retinoblastoma patients in Sri Lanka using targeted next generation sequencing (NGS) and gene ratio analysis copy enumeration PCR (GRACE-PCR).
Kugalingam N et al.
Bmc Medical Genomics, 2023
Mutation spectrum of retinoblastoma patients in Vietnam.
Linh DNH et al.
Molecular Genetics & Genomic Medicine, 2023
All-CLL: A Capture-based Next-generation Sequencing Panel for the Molecular Characterization of Chronic Lymphocytic Leukemia.
López-Oreja I et al.
Hemasphere, 2023
RB1 gene mutations and genetic spectrum in retinoblastoma cases.
Akdeniz Odemis D et al.
Medicine, 2023
Genetics in ophthalmology: molecular blueprints of retinoblastoma.
Marković L et al.
Human Genomics, 2023
Dynamic ctDNA Mutational Complexity in Patients with Melanoma Receiving Immunotherapy.
Fitzgerald S et al.
Molecular Diagnosis & Therapy, 2023
Simultaneous Copy Number Alteration and Single-Nucleotide Variation Analysis in Matched Aqueous Humor and Tumor Samples in Children with Retinoblastoma.
Schmidt MJ et al.
International Journal of Molecular Sciences, 2023
Non-synonymous, synonymous, and non-coding nucleotide variants contribute to recurrently altered biological processes during retinoblastoma progression.
Stachelek K et al.
Genes, Chromosomes & Cancer, 2023
Assessment of aggressive bladder cancer mutations in plasma cell-free DNA.
Carrasco R et al.
Frontiers in Oncology, 2023
EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.
Li Z et al.
Bmc Pulmonary Medicine, 2022
Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.
Rojanaporn D et al.
Translational Vision Science & Technology, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.
Barresi V et al.
Acta Neuropathologica Communications, 2021
Clinical Impact of Detecting Low-Frequency Variants in Cell-Free DNA on Treatment of Castration-Resistant Prostate Cancer.
Mizuno K et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021
Parental Origin of the RB1 Gene Mutations in Families with Low Penetrance Hereditary Retinoblastoma.
Alekseeva EA et al.
Cancers, 2021
DNA hypermethylation/boundary control loss identified in retinoblastomas associated with genetic and epigenetic inactivation of the RB1 gene promoter.
Raizis AM et al.
Epigenetics, 2021
Retinoblastoma from human stem cell-derived retinal organoids.
Norrie JL et al.
Nature Communications, 2021
Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA.
Finkle JD et al.
Npj Precision Oncology, 2021
Breast cancer and DDT: putative interactions, associated gene alterations, and molecular pathways.
Jayaseelan VP et al.
Environmental Science and Pollution Research International, 2021
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Cobain EF et al.
Jama Oncology, 2021
Establishing the Clinical Utility of ctDNA Analysis for Diagnosis, Prognosis, and Treatment Monitoring of Retinoblastoma: The Aqueous Humor Liquid Biopsy.
Xu L et al.
Cancers, 2021
Retrospective Evaluation of Somatic Alterations in Cell-Free DNA from Blood in Retinoblastoma.
Abramson DH et al.
Ophthalmology Science, 2021