Associated Papers
Ribonucleases in Mendelian disease: Characterization and insight from model organisms.
Dutta A et al.
Genes & Diseases, 2025
41630789 (PubMed )
Supplement: mmc1.xlsx › Sheet1
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S et al.
Brain : a Journal of Neurology, 2022
34791078 (PubMed )
Supplement: awab395_supplementary_data.zip › brain-2021-01013-File007.pdf
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant.
Kameli R et al.
Orphanet Journal of Rare Diseases, 2019
rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA.
Haud N et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.
Henneke M et al.
Nature Genetics, 2009
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