Venkateswaran Ramesh

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 · 613 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

Robert W. Taylor, Angela Pyle, Helen Griffin et al. · JAMA · 2014 · 365 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Mortality in Dravet syndrome

Monica S. Cooper, Anne M. McIntosh, Douglas E. Crompton et al. · Epilepsy Research · 2016 · 311 citations

Medicine, Cardiology, Clinical Epidemiology +2

Clinical and molecular characterization of <i>KCNT1</i> -related severe early-onset epilepsy

Amy McTague, Umesh Nair, Sony Malhotra et al. · Neurology · 2017 · 141 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Exome sequencing in undiagnosed inherited and sporadic ataxias

Angela Pyle, Tania Smertenko, David Bargiela et al. · Brain · 2014 · 139 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17