Colin D. Ferrie

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 · 589 citations · Full text

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar et al. · The American Journal of Human Genetics · 2007 · 442 citations · Full text

Cardiomyopathy, Heart Failure, Cardiorenal Syndromes +8

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Birgit Budde, Yasmin Namavar, P. G. Barth et al. · Nature Genetics · 2008 · 251 citations

Genetic Disorder, Natural Sciences, Genetics +5

Nonconvulsive status epilepticus: Epilepsy Research Foundation Workshop Reports

Matthew C. Walker, J. Helen Cross, Shelagh Smith et al. · Epileptic Disorders · 2005 · 181 citations

Neuropsychology, Neurological Disorder, Neurophysiological Biomarkers +19

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

Finbar O’Callaghan, Stuart W. Edwards, Fabienne Dietrich Alber et al. · The Lancet Child & Adolescent Health · 2018 · 161 citations · Full text

Pain Disorders, Hormonal Treatment, Pediatrics +6