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
Oncocytic Thyroid Tumours With Pathogenic FLCN Mutations Mimic Oncocytic Papillary Thyroid Carcinoma on Fine-Needle Aspiration.
Ashraf AM et al.
Cytopathology : Official Journal of the British Society for Clinical Cytology, 2026
[Retinoblastoma in Argentina: study of germline variants of the RB1 gene].
Ducatelli ME et al.
Medicina, 2026
A prospective, multicenter, comprehensive genomic profile signature study in patients with EGFR-mutant advanced non-small cell lung cancer at the first-line treatment failure of osimertinib.
Shi Y et al.
Signal Transduction and Targeted Therapy, 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
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
Evolution and Co-occurrence of PI3K Pathway Gene Mutations in Endometrial Carcinoma Molecular Subtypes at the Single-Cell Level.
Da Cruz Paula A et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Proposed framework for triage of putative germline variants detected via tumour genomic testing in UK oncology practice.
McVeigh TP et al.
Journal of Medical Genetics, 2025
Detection and Characterization of RB1 Mosaicism in Patients With Retinoblastoma Receiving cfDNA Test.
Gao C et al.
Jama Ophthalmology, 2025
Delving Into Retinoblastoma Genetics: Discovery of Novel Mutations and Their Clinical Impact: Retrospective Cohort Study.
Faranoush M et al.
Cancer Medicine, 2025
Folliculin (FLCN) in Thyroid Tumors: Incidence, Significance, and Role as a Driver Gene and Secondary Alteration.
Hassan FA et al.
Current Oncology (toronto, Ont.), 2025
Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.
Riviere-Cazaux C et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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
Retinal Organoids from Induced Pluripotent Stem Cells of Patients with Inherited Retinal Diseases: A Systematic Review.
Lee YJ et al.
Stem Cell Reviews and Reports, 2025
Improved Diagnosis of Glioblastoma, IDH-Wildtype, Metastasis through Molecular and DNA Methylation Profiling: Two Case Reports.
Bertucci A et al.
Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 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
Detailed characterization of combination treatment with MET inhibitor plus EGFR inhibitor in EGFR-mutant and MET-amplified non-small cell lung cancer.
Lee Y et al.
Translational Lung Cancer Research, 2024
Low PD-L1 expression, MAP2K2 alterations, and enriched HPV gene signatures characterize brain metastases in head and neck squamous cell carcinoma.
Dennis MJ et al.
Journal of Translational Medicine, 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
Enhanced innate responses in microglia derived from retinoblastoma patient-specific iPSCs.
Xu J et al.
Glia, 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
Mutational analysis of the RB1 gene in patients with unilateral retinoblastoma.
Yousef YA et al.
Frontiers in Medicine, 2024
Mutation spectrum of retinoblastoma patients in Vietnam.
Linh DNH et al.
Molecular Genetics & Genomic Medicine, 2023
Generation and characterization of two induced pluripotent stem cell lines from conjunctiva of a retinoblastoma patient.
Xu P et al.
Stem Cell Research, 2023
RB1 gene mutations and genetic spectrum in retinoblastoma cases.
Akdeniz Odemis D et al.
Medicine, 2023
The Mutational, Prognostic, and Therapeutic Landscape of Neuroendocrine Neoplasms.
Liu M et al.
The Oncologist, 2023
Genetics in ophthalmology: molecular blueprints of retinoblastoma.
Marković L et al.
Human Genomics, 2023
Retinal organoids provide unique insights into molecular signatures of inherited retinal disease throughout retinogenesis.
Watson A et al.
Journal of Anatomy, 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
Etiology of oncogenic fusions in 5,190 childhood cancers and its clinical and therapeutic implication.
Liu Y et al.
Nature Communications, 2023
GA4GH Phenopackets: A Practical Introduction.
Ladewig MS et al.
Advanced Genetics (hoboken, N.j.), 2023
Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis.
Light N et al.
Nature Communications, 2023
Preclinical Study of a Biparatopic METxMET Antibody-Drug Conjugate, REGN5093-M114, Overcomes MET-driven Acquired Resistance to EGFR TKIs in EGFR-mutant NSCLC.
Oh SY et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Pharmacological induction of translational readthrough of nonsense mutations in the retinoblastoma (RB1) gene.
Palomar-Siles M et al.
Plos One, 2023
CDK4 phosphorylation status and rational use for combining CDK4/6 and BRAF/MEK inhibition in advanced thyroid carcinomas.
Pita JM et al.
Frontiers in Endocrinology, 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
Molecular characterization of adenocarcinomas arising in the urinary bladder following augmentation cystoplasty: a multi-institutional study.
Stohr BA et al.
Human Pathology, 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