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Gurtner, Corinne; Hug, Petra; Kleiter, Miriam; Köhler, Kernt; Dietschi, Elisabeth; Jagannathan, Vidya; Leeb, Tosso (2020). YARS2 Missense Variant in Belgian Shepherd Dogs with Cardiomyopathy and Juvenile Mortality. Genes, 11(3) MDPI 10.3390/genes11030313
Brenig, Bertram; Steingräber, Lilith; Shan, Shuwen; Xu, Fangzheng; Hirschfeld, Marc; Andag, Reiner; Spengeler, M; Dietschi, Elisabeth; Mischke, Reinhard; Leeb, Tosso (2019). Christmas disease in a Hovawart family resembling human hemophilia B Leyden is caused by a single nucleotide deletion in a highly conserved transcription factor binding site of the F9 gene promoter. Haematologica - the hematology journal, 104(11), pp. 2307-2313. Ferrata-Storti Foundation 10.3324/haematol.2018.215426
Letko, Anna; Dietschi, Elisabeth; Nieburg, Marco; Jagannathan, Vidya; Gurtner, Corinne; Oevermann, Anna; Drögemüller, Cord (2019). A Missense Variant in SCN8A in Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia. Genes, 10(5) MDPI 10.3390/genes10050362
Marchant, Thomas W; Dietschi, Elisabeth; Rytz, Ulrich; Schawalder, Peter; Jagannathan, Vidya; Hadji Rasouliha, Sheida; Gurtner, Corinne; Waldvogel, Andreas; Harrington, Ronan S; Drögemüller, Michaela; Kidd, Jeffrey; Ostrander, Elaine A; Warr, Amanda; Watson, Mick; Argyle, David; Ter Haar, Gert; Clements, Dylan N; Leeb, Tosso; Schoenebeck, Jeffrey J (2019). An ADAMTS3 missense variant is associated with Norwich Terrier upper airway syndrome. PLoS genetics, 15(5), e1008102. Public Library of Science 10.1371/journal.pgen.1008102
Bourneuf, E; Otz, P; Pausch, H; Jagannathan, Vidhya; Michot, P; Grohs, C; Piton, G; Ammermüller, S; Deloche, M-C; Fritz, S; Leclerc, H; Péchoux, C; Boukadiri, A; Hozé, C; Saintilan, R; Créchet, F; Mosca, M; Segelke, D; Guillaume, F; Bouet, S; ... (2017). Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species. Scientific Reports, 7(1), p. 11466. Nature Publishing Group 10.1038/s41598-017-11523-3
Mauri, Nico; Kleiter, Miriam; Dietschi, Elisabeth; Leschnik, Michael; Högler, Sandra; Wiedmer, Michaela; Dietrich, Sara Joëlle; Henke, Diana; Steffen, Frank; Schuller, Simone; Gurtner, Corinne; Stokar von Neuforn, Nadine; O'Toole, Donal; Bilzer, Thomas; Herden, Christiane; Oevermann, Anna; Jagannathan, Vidhya; Leeb, Tosso (2017). A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2). G3 Genes Genomes Genetics, 7(8), pp. 2729-2737. Genetics Society of America 10.1534/g3.117.043018
Wielaender, Franziska; Sarviaho, Riika; James, Fiona; Hytönen, Marjo K; Cortez, Miguel A; Kluger, Gerhard; Koskinen, Lotta L E; Arumilli, Meharji; Kornberg, Marion; Bathen-Noethen, Andrea; Tipold, Andrea; Rentmeister, Kai; Bhatti, Sofie F M; Hülsmeyer, Velia; Boettcher, Irene C; Tästensen, Carina; Flegel, Thomas; Dietschi, Elisabeth; Leeb, Tosso; Matiasek, Kaspar; ... (2017). Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1. Proceedings of the National Academy of Sciences of the United States of America - PNAS, 114(10), pp. 2669-2674. National Academy of Sciences NAS 10.1073/pnas.1614478114
Hirz, M; Drögemüller, Michaela; Schänzer, A; Jagannathan, Vidhya; Dietschi, Elisabeth; Goebel, H H; Hecht, W; Laubner, S; Schmidt, M J; Steffen, F; Hilbe, M; Köhler, K; Drögemüller, Cord; Herden, C (2017). Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog. Molecular genetics and metabolism, 120(3), pp. 269-277. Elsevier 10.1016/j.ymgme.2016.12.007
Bauer, Anina Estrella; Waluk, Dominik Pawel; Arnaud, Galichet; Timm, Katrin; Jagannathan, Vidhya; Sayar, Beyza; Wiener, Dominique Judith; Dietschi, Elisabeth; Müller, Eliane Jasmine; Roosje, Petra; Welle, Monika Maria; Leeb, Tosso (2017). A de novo variant in the ASPRV1 gene in a dog with ichthyosis. PLoS genetics, 13(3), e1006651. Public Library of Science 10.1371/journal.pgen.1006651
Mauri, Nico; Kleiter, Miriam; Leschnik, Michael; Högler, Sandra; Dietschi, Elisabeth; Wiedmer, Michaela; Dietrich, Sara Joëlle; Henke, Diana; Steffen, Frank; Schuller, Simone; Gurtner, Corinne; Stokar-Regenscheit, Nadine; O'Toole, Donal; Bilzer, Thomas; Herden, Christiane; Oevermann, Anna; Jagannathan, Vidhya; Leeb, Tosso (2016). A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1). G3 Genes Genomes Genetics, 7(2), pp. 663-669. Genetics Society of America 10.1534/g3.116.038455
Bianchi, Matteo; Dahlgren, Stina; Massey, Jonathan; Dietschi, Elisabeth; Kierczak, Marcin; Lund-Ziener, Martine; Sundberg, Katarina; Thoresen, Stein Istre; Kämpe, Olle; Andersson, Göran; Ollier, William E R; Hedhammar, Åke; Leeb, Tosso; Lindblad-Toh, Kerstin; Kennedy, Lorna J; Lingaas, Frode; Rosengren Pielberg, Gerli (2015). A Multi-Breed Genome-Wide Association Analysis for Canine Hypothyroidism Identifies a Shared Major Risk Locus on CFA12. PLoS ONE, 10(8), e0134720. Public Library of Science 10.1371/journal.pone.0134720
Kyöstilä, Kaisa; Syrjä, Pernilla; Jagannathan, Vidhya; Chandrasekar, Gayathri; Jokinen, Tarja S; Seppälä, Eija H; Becker, Doreen; Drögemüller, Michaela; Dietschi, Elisabeth; Drögemüller, Cord; Lang, Johann; Steffen, Frank; Rohdin, Cecilia; Jäderlund, Karin H; Lappalainen, Anu K; Hahn, Kerstin; Wohlsein, Peter; Baumgärtner, Wolfgang; Henke, Diana; Oevermann, Anna; ... (2015). A Missense Change in the ATG4D Gene Links Aberrant Autophagy to a Neurodegenerative Vacuolar Storage Disease. PLoS genetics, 11(4), e1005169. Public Library of Science 10.1371/journal.pgen.1005169
Frischknecht, Mirjam; Jagannathan, Vidhya; Plattet, Philippe; Neuditschko, Markus; Signer-Hasler, Heidi; Bachmann, Iris; Pacholewska, Alicja Elzbieta; Drögemüller, Cord; Dietschi, Elisabeth; Flury, Christine; Rieder, Stefan; Leeb, Tosso (2015). A Non-Synonymous HMGA2 Variant Decreases Height in Shetland Ponies and Other Small Horses. PLoS ONE, 10(10), e0140749. Public Library of Science 10.1371/journal.pone.0140749
Frischknecht, Mirjam; Niehof-Oellers, Helena; Jagannathan, Vidhya; Owczarek-Lipska, Marta; Drögemüller, Cord; Dietschi, Elisabeth; Dolf, Gaudenz; Tellhelm, Bernd; Lang, Johann; Tiira, Katriina; Lohi, Hannes; Leeb, Tosso (2013). A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism. PLoS ONE, 8(3), e60149. Public Library of Science 10.1371/journal.pone.0060149
Seppala, E.H.; Jokinen, T.S.; Fukata, M.; Fukata, Y.; Webster, M.T.; Karlsson, E.K.; Kilpinen, S.K.; Steffen, F.; Dietschi, Elisabeth; Leeb, Tosso; Eklund, R.; Zhao, X.; Rilstone, J.J.; Lindblad-Toh, K.; Minassian, B.A.; Lohi, H. (2011). LGI2 truncation causes a remitting focal epilepsy in dogs. PLoS genetics, 7(7), e1002194. San Francisco, Calif.: Public Library of Science 10.1371/journal.pgen.1002194
Schawalder, Peter; Spreng, David; Dietschi, Elisabeth; Dolf, Gaudenz; Gaillard, Claude (1997). The biomechanics of the hip joint using new diagnostic aspects in the field of hip dysplasia. Constructive critical thoughts on hip dysplasia diagnosis and today's marketable breeding methods with an outlook on future perspectives and possibilities. Part II. Schweizer Archiv für Tierheilkunde, 139(6), pp. 265-270. Huber
Schawalder, Peter; Spreng, David; Dietschi, Elisabeth; Dolf, Gaudenz; Gaillard, Claude (1996). The biomechanics of the hip joint using new diagnostic aspects in the field of hip joint dysplasia. Constructive criticism of hip dysplasia diagnosis and present marketable breeding methods with an outlook on future perspectives and possibilities. Part I. Schweizer Archiv für Tierheilkunde, 138(11), pp. 511-522. Huber
Schawalder, Peter; Spreng, David; Dietschi, Elisabeth; Dolf, Gaudenz; Gaillard, Claude (1996). Die Hüftgelenksdysplasie im Umfeld von sekundären Einflüssen und ektopischen Ursachen. Kleintierpraxis, 41, pp. 625-638. Schaper
