Christian G E L De Goede

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 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 · 438 citations

Life Sciences, Genetics, Molecular Genetics +16

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek et al. · Brain · 2010 · 413 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A type I interferon signature identifies bilateral striatal necrosis due to mutations in <i>ADAR1</i>

John H. Livingston, Jean‐Pierre Lin, Russell C. Dale et al. · Journal of Medical Genetics · 2013 · 155 citations

Medicine, Genetics, Neurology +17

Acquired transverse myelopathy in children in the United Kingdom – A 2 year prospective study

Christian G E L De Goede, Eileen Holmes, Michael Pike · European Journal of Paediatric Neurology · 2010 · 54 citations

Medicine, Child Health, Pediatrics +3