Tommy Stödberg

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

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

Enrico Leipold, Lutz Liebmann, Georg Christoph Korenke et al. · Nature Genetics · 2013 · 302 citations

Molecular Neuroscience, Genetics, Gain-of-function Mutation +7

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Henrik Stranneheim, Kristina Lagerstedt‐Robinson, Måns Magnusson et al. · Genome Medicine · 2021 · 253 citations · Full text

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Tommy Stödberg, Amy McTague, Arnaud Ruiz et al. · Nature Communications · 2015 · 175 citations · Full text

Kcc2 Dysfunction, Genetics, Neurotransmitter +18

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

Philippa B. Mills, Stéphane Camuzeaux, Emma Footitt et al. · Brain · 2014 · 175 citations · Full text

Molecular Neuroscience, Pnpo Gene, Genetic Disorder +15