Associated Papers
Tracking Cytopenias in FANCA-deficient Fanconi Anemia.
Maxwell RR et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.
Han SH et al.
European Urology Open Science, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.
Han S et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.
Yin L et al.
Jama Network Open, 2022
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
Song H et al.
Journal of Medical Genetics, 2021
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Sivapiragasam A et al.
Cancer Medicine, 2021
Pathogenic Germline Mutations in DNA Repair Genes in Combination With Cancer Treatment Exposures and Risk of Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.
Qin N et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly.
Pinese M et al.
Nature Communications, 2020
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
Kimble DC et al.
Human Mutation, 2018
Mutational landscape of candidate genes in familial prostate cancer.
Johnson AM et al.
The Prostate, 2014
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.
Tsangaris E et al.
Journal of Medical Genetics, 2011
A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients.
Chandra S et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2005
Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.
Levran O et al.
Human Mutation, 2005