John R. Østergaard

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

De novo <i>ACTA2</i> mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

Dianna M. Milewicz, John R. Østergaard, Leena Ala‐Kokko et al. · American Journal of Medical Genetics Part A · 2010 · 269 citations

Life Sciences, Cell Biology, Molecular Genetics +13

Prevalence, incidence, and age at diagnosis in Marfan Syndrome

Kristian A. Groth, Hanne Hove, Kasper Kyhl et al. · Orphanet Journal of Rare Diseases · 2015 · 201 citations · Full text

Life Sciences, Genetics, Health Sciences +14

Intracranial arterial aneurysms in children and adolescents

John R. Østergaard, B. Voldby · Journal of neurosurgery · 1983 · 190 citations

Medicine, Neurosurgery, Surgery +15