Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
2009 · Nature Genetics · 680 citations
https://doi.org/10.1038/ng.373
E
Evangeline Wassmer
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Evangeline Wassmer is an academic researcher from Birmingham Children's Hospital. The author has contributed to research in topics: Multiple Sclerosis Research Studies & Peripheral Neuropathies and Disorders & RNA regulation and disease. The author has an h-index of 62, co-authored 216 publications.
ORCID: 0000-0002-2446-1106Papers by this author
worksCharacterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>
2015 · American Journal of Medical Genetics Part A · 601 citations
https://doi.org/10.1002/ajmg.a.36887
E.U. paediatric MOG consortium consensus: Part 1 – Classification of clinical phenotypes of paediatric myelin oligodendrocyte glycoprotein antibody-associated disorders
2020 · European Journal of Paediatric Neurology · 155 citations
https://doi.org/10.1016/j.ejpn.2020.10.006
E.U. paediatric MOG consortium consensus: Part 1 – Classification of clinical phenotypes of paediatric myelin oligodendrocyte glycoprotein antibody-associated disorders
2020 · European Journal of Paediatric Neurology · 155 citations
https://doi.org/10.1016/j.ejpn.2020.10.006
Mutations in CECR1 associated with a neutrophil signature in peripheral blood
2014 · Pediatric Rheumatology · 113 citations
https://doi.org/10.1186/1546-0096-12-44
Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function
2020 · Human Mutation · 107 citations
https://doi.org/10.1002/humu.23975
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