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
Ribonucleases in Mendelian disease: Characterization and insight from model organisms.
Dutta A et al.
Genes & Diseases, 2025
41630789 (PubMed )
Supplement: mmc1.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: Table2.XLSX › Sheet1
In Silico Characterization of RNASEH2A Pathogenic Variants and Identification of Novel Splice Site Donor Variant c.549+1G>T in Indian Population.
Nanjundagowda VK et al.
Cureus, 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_TableS3.xlsx › S3D
Is the role of human RNase H2 restricted to its enzyme activity?
Feng S et al.
Progress in Biophysics and Molecular Biology, 2016
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ et al.
American Journal of Medical Genetics. Part A, 2015
25604658 (PubMed )
Supplement: supplement_1.docx
Ribonuclease H2 in health and disease.
Reijns MA et al.
Biochemical Society Transactions, 2014
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.
Rice GI et al.
Human Mutation, 2013
Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome.
Coffin SR et al.
The Journal of Biological Chemistry, 2011
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Rice G et al.
American Journal of Human Genetics, 2007
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