Robinson, Robert

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 genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Ibañez, K., Polke, J., Hagelstrom, R. T., Dolzhenko, E., Pasko, D., Thomas, E. R. A., Daugherty, L. C., Kasperaviciute, D., Smith, K. R., McDonagh, E. M., et al. (2022) · The Lancet Neurology

Genetic Neurodegenerative DiseasesGenomics and Rare Diseases

Cited by 187

Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial

O'Callaghan, F. J. K., Edwards, S. W., Alber, F. D., Cortina Borja, M., Hancock, E., Johnson, A. L., Kennedy, C. R., Likeman, M., Lux, A. L., Mackay, M. T., et al. (2018) · The Lancet Child & Adolescent Health

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 167

Impact of electronic health record use on cognitive load and burnout among clinicians: narrative review

Asgari, E., Kaur, J., Nuredini, G., Balloch, J., Taylor, A. M., Sebire, N., Robinson, R., Peters, C., Sridharan, S., & Pimenta, D. (2024) · JMIR Medical Informatics

Electronic Health Records SystemsHealthcare professionals’ stress and burnout

Cited by 142

Use of an ambient artificial intelligence tool to improve quality of clinical documentation

Balloch, J., Sridharan, S., Oldham, G., Wray, J., Gough, P., Robinson, R., Sebire, N. J., Khalil, S., Asgari, E., Tan, C., et al. (2024) · Future Healthcare Journal

Electronic Health Records SystemsArtificial Intelligence in Healthcare and Education

Cited by 107