Associated Papers
Genetic architecture of multiple primary cutaneous melanoma in the absence of high-penetrance susceptibility genes.
Johansson PA et al.
The Journal of Investigative Dermatology, 2026
Differential genetic analysis of ectrodactyly in a Fanconi anemia pedigree with FANCA mutations.
Zhang JH et al.
Medscience, 2026
β-Human Chorionic Gonadotropin-Secreting Giant Cell Tumor of Bone in the Mandible: Case Report and Comprehensive Literature Review.
Flores-Hidalgo A et al.
Head and Neck Pathology, 2026
Tracking Cytopenias in FANCA-deficient Fanconi Anemia.
Maxwell RR et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Comparison of somatic variant oncogenicity classification using ClinGen/CGC/VICC guidelines and QIAGEN Clinical Insight Interpret decision support software.
Goverdhan A et al.
Cancer Genetics, 2025
Head and Neck Cancer in Fanconi Anemia: Clinical Challenges and Molecular Insights into a DNA Repair Disorder.
Choi J et al.
Cancers, 2025
Implementing a Genetic Counselor-Led Model for Hereditary Myeloid Malignancies: A Real-World Study.
VanDerGraaf M et al.
Cancer Medicine, 2025
Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand.
Fluhler H et al.
Genetics in Medicine Open, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Germline findings in cancer predisposing genes from a small cohort of chordoma patients.
Raygada M et al.
Journal of Cancer Research and Clinical Oncology, 2024
FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia.
Ramanagoudr-Bhojappa R et al.
Blood Advances, 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
Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis.
Joshi G et al.
Journal of Medical Genetics, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
DeRoin L et al.
Human Mutation, 2022
Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG Genes.
Farah RA et al.
Journal of Pediatric Hematology/oncology, 2021
Spectrum of Germline Mutations Within Fanconi Anemia-Associated Genes Across Populations of Varying Ancestry.
Chan SH et al.
Jnci Cancer Spectrum, 2021
Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.
Blombery P et al.
Haematologica, 2021
Fanconi Anemia: A Syndrome of Anemia and Skeletal Malformations Progressing to a Gene Network Involved in Genomic Stability and Malignant Disease.
Poot M
Molecular Syndromology, 2020
Canonical and Noncanonical Roles of Fanconi Anemia Proteins: Implications in Cancer Predisposition.
Milletti G et al.
Cancers, 2020
Fanconi anemia and homologous recombination gene variants are associated with functional DNA repair defects in vitro and poor outcome in patients with advanced head and neck squamous cell carcinoma.
Verhagen CVM et al.
Oncotarget, 2018
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.
Bottega R et al.
Haematologica, 2018
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
Kimble DC et al.
Human Mutation, 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
Role of variant allele fraction and rare SNP filtering to improve cellular DNA repair endpoint association.
Vossen DM et al.
Plos One, 2018
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Meng L et al.
Jama Pediatrics, 2017
HSP90 Shapes the Consequences of Human Genetic Variation.
Karras GI et al.
Cell, 2017
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.
De Rocco D et al.
Haematologica, 2014
Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.
Gille JJ et al.
Anemia, 2012
The genetic and molecular basis of Fanconi anemia.
de Winter JP et al.
Mutation Research, 2009
Genetic subtyping of Fanconi anemia by comprehensive mutation screening.
Ameziane N et al.
Human Mutation, 2008
Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction.
Gross M et al.
Cytogenetic and Genome Research, 2002
The emerging genetic and molecular basis of Fanconi anaemia.
Joenje H et al.
Nature Reviews. Genetics, 2001
The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG.
de Winter JP et al.
Human Molecular Genetics, 2000
Complementation analysis in Fanconi anemia: assignment of the reference FA-H patient to group A.
Joenje H et al.
American Journal of Human Genetics, 2000