Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Tracking Cytopenias in FANCA-deficient Fanconi Anemia.
Maxwell RR et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Head and Neck Cancer in Fanconi Anemia: Clinical Challenges and Molecular Insights into a DNA Repair Disorder.
Choi J et al.
Cancers, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
PLK1 Inhibition Induces Synthetic Lethality in Fanconi Anemia Pathway-Deficient Acute Myeloid Leukemia.
Sheth AS et al.
Cancer Research Communications, 2025
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Looking beyond year 1 in the molecular era of pediatric brain tumor diagnosis: confirmatory testing of germline variants found on tumor sequencing.
Greene BL et al.
Frontiers in Oncology, 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
Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center.
Poliani L et al.
Esmo Open, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.
Thompson AS et al.
Molecular Genetics & Genomic Medicine, 2021
Spectrum of Germline Mutations Within Fanconi Anemia-Associated Genes Across Populations of Varying Ancestry.
Chan SH et al.
Jnci Cancer Spectrum, 2021
Severe telomere shortening in Fanconi anemia complementation group L.
Shah A et al.
Molecular Biology Reports, 2021
Clinical, cytogenetic and molecular findings in nine Moroccan patients with Fanconi anemia.
Doubaj Y et al.
The Pan African Medical Journal, 2021
Common germline-somatic variant interactions in advanced urothelial cancer.
Vosoughi A et al.
Nature Communications, 2020
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
Structural basis of the fanconi anemia-associated mutations within the FANCA and FANCG complex.
Jeong E et al.
Nucleic Acids Research, 2020
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S et al.
Npj Genomic Medicine, 2019
FANCA Promotes DNA Double-Strand Break Repair by Catalyzing Single-Strand Annealing and Strand Exchange.
Benitez A et al.
Molecular Cell, 2018
Bone Marrow Mesenchymal Stem Cells Carrying FANCD2 Mutation Differ from the Other Fanconi Anemia Complementation Groups in Terms of TGF-β1 Production.
Cagnan I et al.
Stem Cell Reviews and Reports, 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
A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.
Pilonetto DV et al.
Molecular Genetics & Genomic Medicine, 2017
HSP90 Shapes the Consequences of Human Genetic Variation.
Karras GI et al.
Cell, 2017
The role of the cancer stem cell marker CD271 in DNA damage response and drug resistance of melanoma cells.
Redmer T et al.
Oncogenesis, 2017
FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients.
Solanki A et al.
Plos One, 2016
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
Human Fanconi anemia complementation group a protein stimulates the 5' flap endonuclease activity of FEN1.
Qian L et al.
Plos One, 2013
Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.
Gille JJ et al.
Anemia, 2012
Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.
Castella M et al.
Blood, 2011
Genetic subtyping of Fanconi anemia by comprehensive mutation screening.
Ameziane N et al.
Human Mutation, 2008
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