Associated Papers
Molecular Features and Actionable Gene Targets of Testicular Germ Cell Tumors in a Real-World Setting.
Morales-Grimany R et al.
International Journal of Molecular Sciences, 2025
Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors.
Kuehn JC et al.
Npj Precision Oncology, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 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
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Davidson AL et al.
Genome Medicine, 2023
Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.
Rojanaporn D et al.
Translational Vision Science & Technology, 2022
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
Wagener R et al.
European Journal of Human Genetics : Ejhg, 2021
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
Improved Variant Detection in Clinical Myeloid NGS Testing by Supplementing a Commercial Myeloid NGS Assay with Custom or Extended Data Filtering and Accessory Fragment Analysis.
Schejbel L et al.
Molecular Diagnosis & Therapy, 2021
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
A pilot study evaluating concordance between blood-based and patient-matched tumor molecular testing within pancreatic cancer patients participating in the Know Your Tumor (KYT) initiative.
Pishvaian MJ et al.
Oncotarget, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies.
Xiu J et al.
Oncotarget, 2016
Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.
Wong SQ et al.
British Journal of Cancer, 2015
Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.
Siroy AE et al.
The Journal of Investigative Dermatology, 2015
Clinical validation of a next-generation sequencing screen for mutational hotspots in 46 cancer-related genes.
Singh RR et al.
The Journal of Molecular Diagnostics : Jmd, 2013
Exploring the structural and functional effect of pRB by significant nsSNP in the coding region of RB1 gene causing retinoblastoma.
Rajasekaran R et al.
Science China. Life Sciences, 2010
Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene.
Nichols KE et al.
Human Mutation, 2005
Conservation of the RB1 gene in human and primates.
Sivakumaran TA et al.
Human Mutation, 2005
Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma.
Lohmann DR et al.
American Journal of Human Genetics, 1997
Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma.
Blanquet V et al.
Human Molecular Genetics, 1995
Identification of germline mutations in the RB1 gene by denaturant gradient gel electrophoresis and polymerase chain reaction direct sequencing.
Blanquet V et al.
Human Molecular Genetics, 1993
Somatic mosaicism in a patient with bilateral retinoblastoma.
Greger V et al.
American Journal of Human Genetics, 1990