Associated Papers
[Retinoblastoma in Argentina: study of germline variants of the RB1 gene].
Ducatelli ME et al.
Medicina, 2026
Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.
Allsopp RC et al.
Bmc Cancer, 2025
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
Enabling whole genome sequencing analysis from FFPE specimens in clinical oncology.
Domenico D et al.
Nature Communications, 2025
Rate of germline pathogenic sequence variants in cancer susceptibility genes in an Israeli pediatric and adolescent cancer cohort: a single institute experience.
Nahom D et al.
Familial Cancer, 2025
Morphological, immunohistochemical and molecular analysis of follicular dendritic cell sarcomas: L1CAM as a new diagnostic marker.
Schelbert S et al.
Histopathology, 2025
Clinicogenomic landscape of pancreatic adenocarcinoma identifies KRAS mutant dosage as prognostic of overall survival.
Varghese AM et al.
Nature Medicine, 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
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes.
O'Neill K et al.
Cell Genomics, 2024
Genetic Diagnosis of Retinoblastoma Using Aqueous Humour-Findings from an Extended Cohort.
Gerrish A et al.
Cancers, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Genetic Risk Factors and Clinical Outcomes in Childhood Eye Cancers: A Review.
Hameed S et al.
Genes, 2024
The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.
Tsantikidi A et al.
Diagnostics (basel, Switzerland), 2023
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.
Chen T et al.
Jama Network Open, 2023
Genetics in ophthalmology: molecular blueprints of retinoblastoma.
Marković L et al.
Human Genomics, 2023
Retinoblastoma: A review of the molecular basis of tumor development and its clinical correlation in shaping future targeted treatment strategies.
Rathore S et al.
Indian Journal of Ophthalmology, 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
Validation and Clinical Application of ONCOaccuPanel for Targeted Next-Generation Sequencing of Solid Tumors.
Kim M et al.
Cancer Research and Treatment, 2023
Plasma ctDNA increases tissue NGS-based detection of therapeutically targetable mutations in lung cancers.
Xie J et al.
Bmc Cancer, 2023
Distinct p53 phosphorylation patterns in chronic lymphocytic leukemia patients are reflected in the activation of circumjacent pathways upon DNA damage.
Mancikova V et al.
Molecular Oncology, 2023
Clinical and genetic characteristics of retinoblastoma patients in a single center with four novel RB1 variants.
Vural Ö et al.
International Journal of Ophthalmology, 2023
Spectrum and tissue distribution of RB1 pathogenic alleles in mosaic retinoblastoma patients.
Zhang Y et al.
Ophthalmic Genetics, 2022
Five novel RB1 gene mutations and genotype-phenotype correlations in Chinese children with retinoblastoma.
Li L et al.
International Ophthalmology, 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
Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.
Gounder MM et al.
Nature Communications, 2022
Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit.
Escudero A et al.
International Journal of Clinical Oncology, 2022
Rare germline variants in childhood cancer patients suspected of genetic predisposition to cancer.
Sylvester DE et al.
Genes, Chromosomes & Cancer, 2022
Retinoblastoma in Adults: Clinical Features, Gene Mutations and Treatment Outcomes: A Study of Six Cases.
Zhou N et al.
Frontiers in Oncology, 2022
Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.
Zhang Y et al.
Cell Reports, 2021
A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression.
Liu J et al.
Nature Communications, 2021
Dissecting the Transcriptional and Chromatin Accessibility Heterogeneity of Proliferating Cone Precursors in Human Retinoblastoma Tumors by Single Cell Sequencing-Opening Pathways to New Therapeutic Strategies?
Collin J et al.
Investigative Ophthalmology & Visual Science, 2021
Retrospective Evaluation of Somatic Alterations in Cell-Free DNA from Blood in Retinoblastoma.
Abramson DH et al.
Ophthalmology Science, 2021
Whole-Genome Sequencing of Retinoblastoma Reveals the Diversity of Rearrangements Disrupting RB1 and Uncovers a Treatment-Related Mutational Signature.
Davies HR et al.
Cancers, 2021
ctDNA in Neuroendocrine Carcinoma of Gastroenteropancreatic Origin or of Unknown Primary: The CIRCAN-NEC Pilot Study.
Gerard L et al.
Neuroendocrinology, 2021
Spectrum of germline mutations in RB1 in Chinese patients with retinoblastoma: Application of targeted next-generation sequencing.
Zou Y et al.
Molecular Vision, 2021
Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.
Akolkar D et al.
Plos One, 2021
Plasma Circulating Tumor DNA Sequencing Predicts Minimal Residual Disease in Resectable Esophageal Squamous Cell Carcinoma.
Liu T et al.
Frontiers in Oncology, 2021
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
Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.
Scholl SM et al.
Ebiomedicine, 2020
Spectrum of RB1 Germline Mutations and Clinical Features in Unrelated Chinese Patients With Retinoblastoma.
Lan X et al.
Frontiers in Genetics, 2020
Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.
Woodhouse R et al.
Plos One, 2020
Mutations of the MAPK/TSC/mTOR pathway characterize periventricular glioblastoma with epithelioid SEGA-like morphology-morphological and therapeutic implications.
Georgescu MM et al.
Oncotarget, 2019
Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour.
Gerrish A et al.
The British Journal of Ophthalmology, 2019