Associated Papers
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis.
Joshi G et al.
Journal of Medical Genetics, 2023
36894310 (PubMed )
Supplement: jmg-2022-108714supp003.pdf
A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects.
George M et al.
Human Mutation, 2021
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
Kimble DC et al.
Human Mutation, 2018
Comprehensive genomic profiling of 295 cases of clinically advanced urothelial carcinoma of the urinary bladder reveals a high frequency of clinically relevant genomic alterations.
Ross JS et al.
Cancer, 2016
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
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