Sam Ackroyd

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 · 589 citations · Full text

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

Gillian Rice, Gabriella Forte, Marcin Szynkiewicz et al. · The Lancet Neurology · 2013 · 425 citations · Full text

Genetic Disorder, Aicardi-goutières Syndrome, Genetics +9

Guideline for the diagnosis and management of the rare coagulation disorders

Andrew Mumford, Sam Ackroyd, Raza Alikhan et al. · British Journal of Haematology · 2014 · 360 citations

SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage

Ruth Clifford, Tania Louis, Pauline Robbe et al. · Blood · 2013 · 228 citations · Full text

Fludarabine, Cytarabine, Granulocyte Colony-Stimulating Factor, and Idarubicin With Gemtuzumab Ozogamicin Improves Event-Free Survival in Younger Patients With Newly Diagnosed AML and Overall Survival in Patients With <i>NPM1</i> and <i>FLT3</i> Mutations

Nigel H. Russell, Charlotte S. Wilhelm-Benartzi, Jad Othman et al. · Journal of Clinical Oncology · 2024 · 31 citations · Full text