Associated Papers
Germline mutations of homologous recombination genes and clinical outcomes in pancreatic cancer: a multicenter study in Taiwan.
Cheng SM et al.
Journal of Biomedical Science, 2024
38350919 (PubMed )
Supplement: 12929_2024_1008_MOESM1_ESM.zip › 12929_2024_1008_MOESM1_ESM › Additional_file_1_Table_S2.xlsx › Table_S2
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
Importance of Germline and Somatic Alterations in Human MRE11, RAD50, and NBN Genes Coding for MRN Complex.
Otahalova B et al.
International Journal of Molecular Sciences, 2023
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
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
Nijmegen breakage syndrome (NBS).
Chrzanowska KH et al.
Orphanet Journal of Rare Diseases, 2012
ATR-dependent phosphorylation and activation of ATM in response to UV treatment or replication fork stalling.
Stiff T et al.
The Embo Journal, 2006
Mild Nijmegen breakage syndrome phenotype due to alternative splicing.
Varon R et al.
Human Molecular Genetics, 2006
Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability.
Seemanová E et al.
Journal of Medical Genetics, 2006
Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers.
Di Masi A et al.
Genetic Testing, 2006
Interaction of FANCD2 and NBS1 in the DNA damage response.
Nakanishi K et al.
Nature Cell Biology, 2002
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