Hannah Gornall

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

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

Tracy A. Briggs, Gillian Rice, Sarah B. Daly et al. · Nature Genetics · 2011 · 259 citations · Full text

Medicine, Immunology, Pathobiology +14

Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis

Venkateswaran Ramesh, Bruno De Bernardi, A. Stafa et al. · Developmental Medicine & Child Neurology · 2010 · 110 citations · Full text

Medicine, Molecular Medicine, Neurology +14

Familial Aicardi–Goutières syndrome due to <i>SAMHD1</i> mutations is associated with chronic arthropathy and contractures

Russell C. Dale, Hannah Gornall, Davinder Singh‐Grewal et al. · American Journal of Medical Genetics Part A · 2010 · 83 citations

Life Sciences, Genetics, Molecular Genetics +15