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
41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand.
Fluhler H et al.
Genetics in Medicine Open, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1
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
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Histone Methylation by SETD1A Protects Nascent DNA through the Nucleosome Chaperone Activity of FANCD2.
Higgs MR et al.
Molecular Cell, 2018
The FA Core Complex Contains a Homo-dimeric Catalytic Module for the Symmetric Mono-ubiquitination of FANCI-FANCD2.
Swuec P et al.
Cell Reports, 2017
Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders.
Zhang J et al.
Clinical Genetics, 2016
Defective FANCI binding by a fanconi anemia-related FANCD2 mutant.
Sato K et al.
Plos One, 2014
Histone chaperone activity of Fanconi anemia proteins, FANCD2 and FANCI, is required for DNA crosslink repair.
Sato K et al.
The Embo Journal, 2012
Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing.
Ameziane N et al.
Anemia, 2012
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.
Kalb R et al.
American Journal of Human Genetics, 2007
The Fanconi anemia gene network is conserved from zebrafish to human.
Titus TA et al.
Gene, 2006
A quantitative measurement of the human somatic mutation rate.
Araten DJ et al.
Cancer Research, 2005
Positional cloning of a novel Fanconi anemia gene, FANCD2.
Timmers C et al.
Molecular Cell, 2001
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