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
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
Mapping RB1 gene mutations in retinoblastoma: a study of 200 cases from North India.
Ratna R et al.
Ophthalmic Genetics, 2025
Comprehensive Genomic Profiling of Small-Cell Lung Cancer Reveals Frequent Potentially Targetable Alterations.
Schmalz D et al.
International Journal of Molecular Sciences, 2025
Spectrum of inherited eye disorders at Hong Kong Children's Hospital: insights into the local genetic landscape and experience with ocular genetic services.
Cheng SSW et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2025
Detection and Characterization of RB1 Mosaicism in Patients With Retinoblastoma Receiving cfDNA Test.
Gao C et al.
Jama Ophthalmology, 2025
Genomic alterations in retinoblastoma tumors of Argentine patients.
Parma D et al.
Ophthalmic Genetics, 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
Comparative Analyses of Targeted Myeloid Cancer Next-Generation Sequencing Panel in Fresh Blood, Bone Marrow and FFPE Material.
Hobeck AD et al.
International Journal of Molecular Sciences, 2024
Genomic landscape and tumor mutational features of resected preinvasive to invasive lung adenocarcinoma.
Lin Y et al.
Frontiers in Oncology, 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
Mutation spectrum of retinoblastoma patients in Vietnam.
Linh DNH et al.
Molecular Genetics & Genomic Medicine, 2023
Plasma ctDNA increases tissue NGS-based detection of therapeutically targetable mutations in lung cancers.
Xie J et al.
Bmc Cancer, 2023
Comprehensive genomic profiling suggested multifocal development of retinoblastoma in a single eye.
Sai M et al.
Pediatric Blood & Cancer, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
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
Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.
Gutierrez-Rodrigues F et al.
Haematologica, 2022
Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.
Robinson PS et al.
Nature Communications, 2022
Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.
Zhang Y et al.
Cell Reports, 2021
Clinicopathological and genomic features in patients with head and neck neuroendocrine carcinoma.
Ohmoto A et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 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
Genomic landscape of gliosarcoma: distinguishing features and targetable alterations.
Zaki MM et al.
Scientific Reports, 2021
Retinoblastoma from human stem cell-derived retinal organoids.
Norrie JL et al.
Nature Communications, 2021
Distinct mutational backgrounds and clonal architectures implicated prognostic discrepancies in small-cell carcinomas of the esophagus and lung.
Song Z et al.
Cell Death & Disease, 2021
Genomic analysis between idiopathic pulmonary fibrosis and associated lung cancer using laser-assisted microdissection: A case report.
Iida Y et al.
Thoracic Cancer, 2021
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Cobain EF et al.
Jama Oncology, 2021
Cutaneous adnexal carcinosarcoma: Immunohistochemical and molecular evidence of epithelial mesenchymal transition.
Kwon D et al.
Journal of Cutaneous Pathology, 2021
Retrospective Evaluation of Somatic Alterations in Cell-Free DNA from Blood in Retinoblastoma.
Abramson DH et al.
Ophthalmology Science, 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
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
The interplay of cell cycle and DNA repair gene alterations in upper tract urothelial carcinoma: predictive and prognostic implications.
Vlachostergios PJ
Precision Clinical Medicine, 2020
Genomic Database Analysis of Uterine Leiomyosarcoma Mutational Profile.
Astolfi A et al.
Cancers, 2020
Analysis of error profiles in deep next-generation sequencing data.
Ma X et al.
Genome Biology, 2019
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.
Wang P et al.
Translational Vision Science & Technology, 2019
CCNE1 amplification is associated with poor prognosis in patients with triple negative breast cancer.
Zhao ZM et al.
Bmc Cancer, 2019
Spectrum of mutations in the RB1 gene in Vietnamese patients with retinoblastoma.
Kiet NC et al.
Molecular Vision, 2019
Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan.
Yousef YA et al.
Familial Cancer, 2018
Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.
Cygan KJ et al.
Human Genetics, 2017
Genetic screening in Iranian patients with retinoblastoma.
Shahraki K et al.
Eye (london, England), 2017
Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.
Tomar S et al.
Plos One, 2017
A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families.
Li WL et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Knudson's hypothesis revisited in Indian retinoblastoma patients.
Gaikwad N et al.
Asia-pacific Journal of Clinical Oncology, 2015