Julie Prendiville

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Gillian Rice, Jacquelyn Bond, Aruna Asipu et al. · Nature Genetics · 2009 · 684 citations

Life Sciences, Genetics, Molecular Genetics +11

Characterization 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>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 613 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar et al. · The American Journal of Human Genetics · 2007 · 450 citations · Full text

Medicine, Cardiology, Genetics +11

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

Nicole Revençu, Laurence M. Boon, John B. Mulliken et al. · Human Mutation · 2008 · 430 citations

Medicine, Genetics, Neurology +17

The Spectrum of Pathogenic Mutations in SPINK5 in 19 Families with Netherton Syndrome: Implications for Mutation Detection and First Case of Prenatal Diagnosis

Eli Sprecher, Shivan Amin, Karl Nielsen et al. · Journal of Investigative Dermatology · 2001 · 162 citations

Life Sciences, Genetics, Molecular Genetics +13