Associated Papers
Translational readthrough using TRIDs - Achievements and challenges for the treatment of inherited retinal disorders.
Nagel-Wolfrum K et al.
Molecular Aspects of Medicine, 2026
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
Assessing endocrine resistance: monitoring circulating ESR1 mutations in Irosustat-treated ER positive breast cancer.
Page K et al.
Breast Cancer Research and Treatment, 2025
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
Circulating Tumor DNA as a Biomarker for Precision Medicine in Prostate Cancer: A Systematic Review.
Chanhih N et al.
International Journal of Molecular Sciences, 2025
Evaluation of urinary cfDNA workflows for the molecular profiling of malignant disease.
Eberhard A et al.
Iscience, 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
Corrigendum to "POLE-Mutated Uterine Carcinosarcomas: A Clinicopathologic and Molecular Study of 11 Cases": [Modern Pathology 38 (2025) 100676].
Hammer PM et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025
POLE-Mutated Uterine Carcinosarcomas: A Clinicopathologic and Molecular Study of 11 Cases.
Hammer PM et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 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
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
Prognostic importance of direct assignment of parent of origin via long-read genome and epigenome sequencing in retinoblastoma.
Stacey AW et al.
Jci Insight, 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
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
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Therapeutic targeting of TP53 nonsense mutations in cancer.
Strandgren C et al.
Upsala Journal of Medical Sciences, 2024
Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes.
Carvalho NA et al.
Journal of Medical Genetics, 2023
Genomic Tumor Correlates of Clinical Outcomes Following Organ-Sparing Chemoradiation Therapy for Bladder Cancer.
Kamran SC et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Mutation spectrum of retinoblastoma patients in Vietnam.
Linh DNH et al.
Molecular Genetics & Genomic Medicine, 2023
An Aggressive Course of Transformed Splenic Diffuse Red Pulp Small B-Cell Lymphoma With Novel Somatic Loss-of-Function Mutation in RB1.
Christensen LM et al.
Journal of Hematology, 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
Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants.
Stoltze UK et al.
Genome Medicine, 2023
Comparison of clinicopathological and genomic profiles in anal squamous cell carcinoma between Japanese and Caucasian cohorts.
Ito T et al.
Scientific Reports, 2023
RB1 aberrations predict outcomes of immune checkpoint inhibitor combination therapy in NSCLC.
Wang Q et al.
Frontiers in Oncology, 2023
Pharmacological induction of translational readthrough of nonsense mutations in the retinoblastoma (RB1) gene.
Palomar-Siles M et al.
Plos One, 2023
Identification of novel genes by targeted exome sequencing in Retinoblastoma.
Bisht S et al.
Ophthalmic Genetics, 2022
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
Genetic testing in adult survivors of retinoblastoma in Denmark: A study of the experience and impact of genetic testing many years after initial diagnosis.
Gregersen PA et al.
European Journal of Medical Genetics, 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
Comprehensive genetic analysis of histological components of combined small cell carcinoma.
Iida Y et al.
Thoracic Cancer, 2022
Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.
Liu B et al.
Cancer Medicine, 2022
Neuroendocrine transformation from EGFR/ALK-wild type or TKI-naïve non-small cell lung cancer: An under-recognized phenomenon.
Chu X et al.
Lung Cancer (amsterdam, Netherlands), 2022
Aqueous humor as a surrogate biomarker for retinoblastoma tumor tissue.
Raval V et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2022
Characterization of the Portuguese population diagnosed with retinoblastoma.
Castela G et al.
Scientific Reports, 2022
Identification of novel RB1 genetic variants in Retinoblastoma patients and their impact on clinical outcome.
Manukonda R et al.
Ophthalmic Genetics, 2022
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Newman S et al.
Cancer Discovery, 2021
RB1 germline mutation spectrum and clinical features in patients with unilateral retinoblastomas.
Fang X et al.
Ophthalmic Genetics, 2021
Comprehensive molecular characterization of pediatric radiation-induced high-grade glioma.
DeSisto J et al.
Nature Communications, 2021
Retinoblastoma genetics screening and clinical management.
Gupta H et al.
Bmc Medical Genomics, 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
Circulating Tumor DNA Analyses Predict Disease Recurrence in Non-Muscle-Invasive Bladder Cancer.
Zhang J et al.
Frontiers in Oncology, 2021