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An ADAMTS3 missense variant is associated with Norwich Terrier upper airway syndrome.
Marchant TW, Dietschi E, Rytz U, Schawalder P, Jagannathan V, Hadji Rasouliha S, Gurtner C, Waldvogel AS, Harrington RS, Drögemüller M, Kidd J, Ostrander EA, Warr A, Watson M, Argyle D, Ter Haar G, Clements DN, Leeb T, Schoenebeck JJ. Marchant TW, et al. Among authors: dietschi e. PLoS Genet. 2019 May 16;15(5):e1008102. doi: 10.1371/journal.pgen.1008102. eCollection 2019 May. PLoS Genet. 2019. PMID: 31095560 Free PMC article.
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.
Brenig B, Steingräber L, Shan S, Xu F, Hirschfeld M, Andag R, Spengeler M, Dietschi E, Mischke R, Leeb T. Brenig B, et al. Among authors: dietschi e. Haematologica. 2019 Nov;104(11):2307-2313. doi: 10.3324/haematol.2018.215426. Epub 2019 Mar 7. Haematologica. 2019. PMID: 30846504 Free PMC article.
A de novo variant in the ASPRV1 gene in a dog with ichthyosis.
Bauer A, Waluk DP, Galichet A, Timm K, Jagannathan V, Sayar BS, Wiener DJ, Dietschi E, Müller EJ, Roosje P, Welle MM, Leeb T. Bauer A, et al. Among authors: dietschi e. PLoS Genet. 2017 Mar 1;13(3):e1006651. doi: 10.1371/journal.pgen.1006651. eCollection 2017 Mar. PLoS Genet. 2017. PMID: 28249031 Free PMC article.
Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1.
Wielaender F, Sarviaho R, James F, Hytönen MK, Cortez MA, Kluger G, Koskinen LL, Arumilli M, Kornberg M, Bathen-Noethen A, Tipold A, Rentmeister K, Bhatti SF, Hülsmeyer V, Boettcher IC, Tästensen C, Flegel T, Dietschi E, Leeb T, Matiasek K, Fischer A, Lohi H. Wielaender F, et al. Among authors: dietschi e. Proc Natl Acad Sci U S A. 2017 Mar 7;114(10):2669-2674. doi: 10.1073/pnas.1614478114. Epub 2017 Feb 21. Proc Natl Acad Sci U S A. 2017. PMID: 28223533 Free PMC article.
A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1).
Mauri N, Kleiter M, Leschnik M, Högler S, Dietschi E, Wiedmer M, Dietrich J, Henke D, Steffen F, Schuller S, Gurtner C, Stokar-Regenscheit N, O'Toole D, Bilzer T, Herden C, Oevermann A, Jagannathan V, Leeb T. Mauri N, et al. Among authors: dietschi e. G3 (Bethesda). 2017 Feb 9;7(2):663-669. doi: 10.1534/g3.116.038455. G3 (Bethesda). 2017. PMID: 28007838 Free PMC article.
A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2).
Mauri N, Kleiter M, Dietschi E, Leschnik M, Högler S, Wiedmer M, Dietrich J, Henke D, Steffen F, Schuller S, Gurtner C, Stokar-Regenscheit N, O'Toole D, Bilzer T, Herden C, Oevermann A, Jagannathan V, Leeb T. Mauri N, et al. Among authors: dietschi e. G3 (Bethesda). 2017 Aug 7;7(8):2729-2737. doi: 10.1534/g3.117.043018. G3 (Bethesda). 2017. PMID: 28620085 Free PMC article.
A Non-Synonymous HMGA2 Variant Decreases Height in Shetland Ponies and Other Small Horses.
Frischknecht M, Jagannathan V, Plattet P, Neuditschko M, Signer-Hasler H, Bachmann I, Pacholewska A, Drögemüller C, Dietschi E, Flury C, Rieder S, Leeb T. Frischknecht M, et al. Among authors: dietschi e. PLoS One. 2015 Oct 16;10(10):e0140749. doi: 10.1371/journal.pone.0140749. eCollection 2015. PLoS One. 2015. PMID: 26474182 Free PMC article.
A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism.
Frischknecht M, Niehof-Oellers H, Jagannathan V, Owczarek-Lipska M, Drögemüller C, Dietschi E, Dolf G, Tellhelm B, Lang J, Tiira K, Lohi H, Leeb T. Frischknecht M, et al. Among authors: dietschi e. PLoS One. 2013;8(3):e60149. doi: 10.1371/journal.pone.0060149. Epub 2013 Mar 20. PLoS One. 2013. PMID: 23527306 Free PMC article.
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