Adeline Vanderver

Adeline Vanderver

Children's Hospital of Philadelphia - Philadelphia / United States
Medical and Health Sciences / Neurology
AD Scientific Index ID: 4687601
person_outline Adeline Vanderver's MOST POPULAR ARTICLES
1-) Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signatureGI Rice, PR Kasher, GMA Forte, NM Mannion, SM Greenwood, ...Nature genetics 44 (11), 1243-1248, 20127142012
2-) Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune responseGI Rice, J Bond, A Asipu, RL Brunette, IW Manfield, IM Carr, JC Fuller, ...Nature genetics 41 (7), 829-832, 20097072009
3-) Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signalingGI Rice, Y del Toro Duany, EM Jenkinson, GMA Forte, BH Anderson, ...Nature genetics 46 (5), 503-509, 20145042014
4-) Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ...American journal of medical genetics Part A 167 (2), 296-312, 20156102015
5-) Clinical and molecular phenotype of Aicardi-Goutieres syndromeG Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ...The American Journal of Human Genetics 81 (4), 713-725, 20074872007