Johanna Schmidt

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Gillian Rice, Paul R. Kasher, Gabriella Forte et al. · Nature Genetics · 2012 · 943 citations

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

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

Cas Simons, Nicole I. Wolf, Nathan McNeil et al. · The American Journal of Human Genetics · 2013 · 194 citations · Full text

Life Sciences, Neurology, Neuroscience +16

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

Ryan J. Taft, Adeline Vanderver, Richard J. Leventer et al. · The American Journal of Human Genetics · 2013 · 187 citations · Full text

Medicine, Neurology, Neuroscience +12

Whole exome sequencing in patients with white matter abnormalities

Adeline Vanderver, Cas Simons, Guy Helman et al. · Annals of Neurology · 2016 · 145 citations · Full text

Life Sciences, Genetics, Neurology +17