Associated Papers
The clinical application of affected-embryo-based SNP haplotype analysis for patients with de novo pathogenic mutations in PGT-M cycles.
Wang J et al.
Archives of Gynecology and Obstetrics, 2024
A Novel Mutation of the ADAR1 Gene in a Chinese Family with Dyschromatosis Symmetrica Hereditaria and Literature Review.
Ge H et al.
Clinical, Cosmetic and Investigational Dermatology, 2024
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Rice GI et al.
Neuropediatrics, 2017
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
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.
Livingston JH et al.
Journal of Medical Genetics, 2014
Select a paper to view details