Johann te Water Naudé

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

Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations

Marjan E. Steenweg, Daniele Ghezzi, Tobias B. Haack et al. · Brain · 2012 · 216 citations · Full text

Long-term outcome of paediatric-onset multiple sclerosis: a population-based study

Katharine Harding, Kate Liang, M. Cossburn et al. · Journal of Neurology Neurosurgery & Psychiatry · 2012 · 133 citations

The prevalence of neuromyelitis optica in South East Wales

M. Cossburn, George Tackley, K. Baker et al. · European Journal of Neurology · 2011 · 99 citations

Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy

Andrew E. Fry, Christopher Marra, Anna V. Derrick et al. · The American Journal of Human Genetics · 2020 · 44 citations · Full text

Epileptic Encephalopathy, X-linked Developmental, Developmental Biology +6