Elisabeth Dietschi

LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs

Eija H. Seppälä, Tarja S. Jokinen, Masaki Fukata et al. · PLoS Genetics · 2011 · 109 citations · Full text

Medicine, Genetics, Neurology +17

Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species

Emmanuelle Bourneuf, P. Otz, Hubert Pausch et al. · Scientific Reports · 2017 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A Non-Synonymous HMGA2 Variant Decreases Height in Shetland Ponies and Other Small Horses

Mirjam Frischknecht, Vidhya Jagannathan, Philippe Plattet et al. · PLoS ONE · 2015 · 76 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

Franziska Wielaender, Riika Sarviaho, Fiona James et al. · Proceedings of the National Academy of Sciences · 2017 · 56 citations · Full text

Life Sciences, Genetics, Neuroscience +15

A Missense Change in the ATG4D Gene Links Aberrant Autophagy to a Neurodegenerative Vacuolar Storage Disease

Kaisa Kyöstilä, Pernilla Syrjä, Vidhya Jagannathan et al. · PLoS Genetics · 2015 · 54 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17