Anthony Oojageer

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

Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease

Gillian Rice, Isabelle Melki, Marie‐Louise Frémond et al. · Journal of Clinical Immunology · 2016 · 206 citations · Full text

Life Sciences, Immunology, Pediatrics +12

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Emma M. Jenkinson, Mathieu P. Rodero, Paul R. Kasher et al. · Nature Genetics · 2016 · 147 citations · Full text

Medicine, Neurology, Neuroscience +11

Stimulator of Interferon Genes–Associated Vasculopathy With Onset in Infancy

J Conde Munoz, M. Rodière, Nadia Jeremiah et al. · JAMA Dermatology · 2015 · 120 citations

Medicine, Immunology, Pediatrics +17

Mutations in CECR1 associated with a neutrophil signature in peripheral blood

Alexandre Bélot, Evangeline Wassmer, Marinka Twilt et al. · Pediatric Rheumatology · 2014 · 114 citations · Full text

Life Sciences, Immunology, Molecular Genetics +17