Schmidt, Johanna L.

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

Rice, G. I., Kasher, P. R., Forte, G. M. A., Mannion, N. M., Greenwood, S. M., Szynkiewicz, M., Dickerson, J. E., Bhaskar, S. S., Zampini, M., Briggs, T. A., et al. (2012) · Nature Genetics

RNA regulation and diseaseinterferon and immune responses

Cited by 923

Whole exome sequencing in patients with white matter abnormalities

Vanderver, A., Simons, C., Helman, G., Crawford, J., Wolf, N. I., Bernard, G., Pizzino, A., Schmidt, J. L., Takanohashi, A., Miller, D., et al. (2016) · Annals of Neurology

Genomics and Rare DiseasesHereditary Neurological Disorders

Cited by 145

Genome sequencing in persistently unsolved white matter disorders

Helman, G., Lajoie, B. R., Crawford, J., Takanohashi, A., Walkiewicz, M., Dolzhenko, E., Gross, A. M., Gainullin, V. G., Bent, S. J., Jenkinson, E. M., et al. (2020) · Annals of Clinical and Translational Neurology

Genomics and Rare DiseasesHereditary Neurological Disorders

Cited by 39

Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome

Takanohashi, A., Prust, M., Wang, J., Gordish-Dressman, H., Bloom, M., Rice, G. I., Schmidt, J. L., Crow, Y. J., Lebon, P., Kuijpers, T. W., et al. (2013) · Neurology

Inflammasome and immune disordersinterferon and immune responses

Cited by 25