Associated Papers
Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.
Nakata E et al.
Cancer Science, 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
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
Detection and Characterization of RB1 Mosaicism in Patients With Retinoblastoma Receiving cfDNA Test.
Gao C et al.
Jama Ophthalmology, 2025
Circulating Tumor DNA in Advanced EGFRex20+ NSCLC: Concordance with Tissue Biopsy, Monitoring of Response, and Resistance to High-Dose Osimertinib.
Zwierenga F et al.
Targeted Oncology, 2025
Does paired genetic testing improve targeted therapy choices and screening recommendations for patients with upper gastrointestinal cancers and their families? A prospective cohort of 42 patients.
Tatunay K et al.
Bmj Open, 2025
Delving Into Retinoblastoma Genetics: Discovery of Novel Mutations and Their Clinical Impact: Retrospective Cohort Study.
Faranoush M et al.
Cancer Medicine, 2025
Deciphering lung adenocarcinoma evolution and the role of LINE-1 retrotransposition.
Zhang T et al.
Biorxiv : the Preprint Server for Biology, 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
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
Genomic Profiling in Glioma Patients to Explore Clinically Relevant Markers.
Varachev V et al.
International Journal of Molecular Sciences, 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
Genetic Diagnosis of Retinoblastoma Using Aqueous Humour-Findings from an Extended Cohort.
Gerrish A et al.
Cancers, 2024
Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.
Shiota M et al.
Bjc Reports, 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
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Mutational analysis of the RB1 gene in patients with unilateral retinoblastoma.
Yousef YA et al.
Frontiers in Medicine, 2024
The Mutational Spectrum of Pre- and Post-Neoadjuvant Chemotherapy Triple-Negative Breast Cancers.
Aguilar-Mahecha A et al.
Genes, 2023
The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.
Tsantikidi A et al.
Diagnostics (basel, Switzerland), 2023
Genetics in ophthalmology: molecular blueprints of retinoblastoma.
Marković L et al.
Human Genomics, 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 the Mutation Profile of Tonsillar Squamous Cell Carcinomas Using Targeted Next-Generation Sequencing.
Park HY et al.
Biomedicines, 2023
Sensitive Detection of Cell-Free Tumour DNA Using Optimised Targeted Sequencing Can Predict Prognosis in Gastro-Oesophageal Cancer.
Wallander K et al.
Cancers, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.
Bhai P et al.
Frontiers in Oncology, 2023
Germline landscape of RPA1, RPA2 and RPA3 variants in pediatric malignancies: identification of RPA1 as a novel cancer predisposition candidate gene.
Sharma R et al.
Frontiers in Oncology, 2023
pRB immunostaining in the differential diagnosis between pleomorphic xanthoastrocytoma and glioblastoma with giant cells.
Barresi V et al.
Histopathology, 2022
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
Targeted Next-Generation Sequencing-Based Multiple Gene Mutation Profiling of Patients with Rectal Adenocarcinoma Receiving or Not Receiving Neoadjuvant Chemoradiotherapy.
Chang YK et al.
International Journal of Molecular Sciences, 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
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
Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer.
Bonazzi VF et al.
Genome Medicine, 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
Parental Origin of the RB1 Gene Mutations in Families with Low Penetrance Hereditary Retinoblastoma.
Alekseeva EA et al.
Cancers, 2021