Associated Papers
Evaluating the Effectiveness of Early Genetic Screening for Fanconi Anemia in High-Risk Pediatric Populations.
Al-Doski AAS
Molecular Genetics & Genomic Medicine, 2026
Complex Relationships Between Homologous Recombination Deficiency (HRD) Score and Mutational Status of Homologous Recombination Repair (HRR) Genes in Prostate Carcinomas.
Iyevleva AG et al.
International Journal of Molecular Sciences, 2025
Head and Neck Cancer in Fanconi Anemia: Clinical Challenges and Molecular Insights into a DNA Repair Disorder.
Choi J et al.
Cancers, 2025
Prevalence of myeloid gene alterations in paediatric cutaneous and systemic mastocytosis.
Sun X et al.
British Journal of Haematology, 2025
Distinct developmental outcomes in DNA repair-deficient FANCC c.67delG mutant and FANCC-/- Mice.
Beesetti S et al.
Cell Death and Differentiation, 2025
Founder Variants in the Mexican Population: A Systematic Review.
Harari-Arakindji S et al.
Archives of Medical Research, 2025
Geographic and age variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Nature, 2025
Geographic and age-related variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Multiple Myeloma Risk and Outcomes Are Associated with Pathogenic Germline Variants in DNA Repair Genes.
Thibaud S et al.
Blood Cancer Discovery, 2024
PARP Inhibitors in Pancreatic Cancer with Homologous Recombination Repair Gene Mutations: A Single-Institution Experience.
Miao R et al.
Cancers, 2024
Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.
Han SH et al.
European Urology Open Science, 2024
Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.
Llorin H et al.
Genetics in Medicine Open, 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
Comprehensive single-cell genome analysis at nucleotide resolution using the PTA Analysis Toolbox.
Middelkamp S et al.
Cell Genomics, 2023
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
Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'.
Langenberg KPS et al.
European Journal of Cancer (oxford, England : 1990), 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
Survey of germline variants in cancer-associated genes in young adults with colorectal cancer.
Mikaeel RR et al.
Genes, Chromosomes & Cancer, 2022
High Prevalence of Constitutional Mismatch Repair Deficiency in a Pediatric T-cell Lymphoblastic Lymphoma Cohort.
Kroeze E et al.
Hemasphere, 2022
Type-I Interferon Signaling in Fanconi Anemia.
Landelouci K et al.
Frontiers in Cellular and Infection Microbiology, 2022
Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study.
Atmar K et al.
Frontiers in Immunology, 2022
The Prevent Ovarian Cancer Program (POCP): Identification of women at risk for ovarian cancer using complementary recruitment approaches.
Tone AA et al.
Gynecologic Oncology, 2021
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
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Cobain EF et al.
Jama Oncology, 2021
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Canonical and Noncanonical Roles of Fanconi Anemia Proteins: Implications in Cancer Predisposition.
Milletti G et al.
Cancers, 2020
Diagnostic yield of a custom-designed multi-gene cancer panel in Irish patients with breast cancer.
McVeigh ÚM et al.
Irish Journal of Medical Science, 2020
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
McCabe MJ et al.
Scientific Reports, 2019
FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, México.
García-de Teresa B et al.
Molecular Genetics & Genomic Medicine, 2019
Fanconi anaemia presenting as acute myeloid leukaemia and myelodysplastic syndrome in adulthood: a family report on co-occurring FANCC and CHEK2 mutations.
Berger G et al.
British Journal of Haematology, 2019
High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer.
Bertelsen B et al.
Npj Genomic Medicine, 2019
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.
Bottega R et al.
Haematologica, 2018
Recent advances in understanding hematopoiesis in Fanconi Anemia.
Bagby G
F1000research, 2018
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
Emerging functions of the Fanconi anemia pathway at a glance.
Sumpter R et al.
Journal of Cell Science, 2017
A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.
Pilonetto DV et al.
Molecular Genetics & Genomic Medicine, 2017
Four decades of stem cell transplantation for Fanconi anaemia in the Netherlands.
Smetsers SE et al.
British Journal of Haematology, 2016
Fanconi Anemia Genes, of Menders and Sweepers.
Campello S et al.
Developmental Cell, 2016