Associated Papers
Tracking Cytopenias in FANCA-deficient Fanconi Anemia.
Maxwell RR et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
41445598 (PubMed )
Supplement: media-1.pdf
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
38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1
Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.
Saygin C et al.
Blood Advances, 2023
36001442 (PubMed )
Supplement: BLOODA_ADV-2022-008172-mmc1.pdf
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
DeRoin L et al.
Human Mutation, 2022
35419889 (PubMed )
Supplement: HUMU-43-950-s001.xlsx › S3
Structure of the FA core ubiquitin ligase closing the ID clamp on DNA.
Wang S et al.
Nature Structural & Molecular Biology, 2021
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
Kimble DC et al.
Human Mutation, 2018
Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.
Gille JJ et al.
Anemia, 2012
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
Validation of Fanconi anemia complementation Group A assignment using molecular analysis.
Moghrabi NN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009
Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants.
Adachi D et al.
Human Molecular Genetics, 2002
Sequence variation in the Fanconi anemia gene FAA.
Levran O et al.
Proceedings of the National Academy of Sciences of the United States of America, 1997
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