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Cook, Shawna R; Schwarz, Cleo; Guevar, Julien; Assenmacher, Charles-Antoine; Sheehy, Maeve; Fanzone, Nathan; Church, Molly E; Murgiano, Leonardo; Casal, Margret L; Jagannathan, Vidhya; Gutierrez-Quintana, Rodrigo; Lowrie, Mark; Steffen, Frank; Leeb, Tosso; Ekenstedt, Kari J (2024). Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy. (In Press). Movement disorders Wiley 10.1002/mds.29977
Kiener, Sarah; Lehner, Georg; Jagannathan, Vidhya; Welle, Monika; Leeb, Tosso (2024). Heterozygous DSP in-frame deletion in a poodle with syndromic ichthyosis involving additional hair and tooth abnormalities. (In Press). Animal genetics Wiley 10.1111/age.13467
Kiener, Sarah; Wildermuth, Brett; Meertens, Nadine M; Jagannathan, Vidhya; Leeb, Tosso (2024). Heterozygous deletion of the NSDHL gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi. Animal genetics, 55(4), pp. 697-699. Wiley 10.1111/age.13436
Letko, Anna; Gurtner, Corinne; Jagannathan, Vidhya; Drögemüller, Cord (2024). Renal dysplasia in Leonberger dogs - An emerging recessive congenital disorder? Animal genetics, 55(4), pp. 700-701. Wiley 10.1111/age.13439
Rietmann, Stefan J; Nowell, Sarah; Keating, M Kelly; Bauer, Cynthia; Jagannathan, Vidhya; Leeb, Tosso (2024). Heterozygous COL5A1 deletion in a cat with classical Ehlers-Danlos syndrome. Animal genetics, 55(4), pp. 705-707. Wiley 10.1111/age.13446
Rietmann, Stefan J.; Cochet-Faivre, Noëlle; Dropsy, Helene; Jagannathan, Vidhya; Chevallier, Lucie; Leeb, Tosso (2024). EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia. Genes, 15(7) MDPI 10.3390/genes15070854
Kiener, Sarah; Åhman, Susanne; Cikota, Robert; Jagannathan, Vidhya; Blatter, Sohvi; Cvitas, Iva; Soto, Sara; Leeb, Tosso (2024). Heterozygous ASPRV1 frameshift variant in a Pembroke Welsh Corgi with ichthyosis. Animal genetics, 55(3), pp. 490-492. Wiley 10.1111/age.13423
Rietmann, Stefan J; Lange, Anja; Soto, Sara; Thom, Nina; Manz, Eberhard; Jagannathan, Vidhya; Mayer, Ursula; Leeb, Tosso (2024). KRT5 in-frame deletion in a family of German Shepherd dogs with split paw pad disease resembling localized epidermolysis bullosa simplex in human patients. Animal genetics, 55, pp. 692-696. Wiley 10.1111/age.13444
Christen, Matthias; Gregor, Katharina M; Böttcher-Künneke, Ariane; Lombardo, Mara S; Baumgärtner, Wolfgang; Jagannathan, Vidhya; Puff, Christina; Leeb, Tosso (2024). Intragenic MFSD8 duplication and histopathological findings in a rabbit with neuronal ceroid lipofuscinosis. Animal genetics, 55, pp. 588-598. Wiley 10.1111/age.13441
Mizukami, Keijiro; Dorsey-Oresto, Angella; Raj, Karthik; Eringis, Anna; Furrow, Eva; Martin, Errolyn; Yamanaka, Daisuke; Kehl, Alexandra; Kolicheski, Ana; Jagannathan, Vidhya; Leeb, Tosso; Lionakis, Michail S; Giger, Urs (2024). Increased susceptibility to Mycobacterium avium complex infection in miniature Schnauzer dogs caused by a codon deletion in CARD9. Scientific reports, 14(10346) Springer Nature 10.1038/s41598-024-61054-x
Kaelin, Christopher B; McGowan, Kelly A; Hutcherson, Anthony D; Delay, John M; Li, Jeremiah H; Kiener, Sarah; Jagannathan, Vidhya; Leeb, Tosso; Murphy, William J; Barsh, Gregory S (2024). Ancestry dynamics and trait selection in a designer cat breed. Current biology, 34(7), 1506-1518.e7. Cell Press 10.1016/j.cub.2024.02.075
Sage, Sophie E.; Leeb, Tosso; Jagannathan, Vidhya; Gerber, Vinzenz (2024). Single-cell profiling of bronchoalveolar cells reveals a Th17 signature in neutrophilic severe equine asthma. Immunology, 171(4), pp. 549-565. Wiley-Blackwell 10.1111/imm.13745
Christen, Matthias; Oevermann, Anna; Rupp, Stefan; Vaz, Frédéric M; Wever, Eric J M; Braus, Barbara K; Jagannathan, Vidhya; Kehl, Alexandra; Hytönen, Marjo K; Lohi, Hannes; Leeb, Tosso (2024). PCYT2 deficiency in Saarlooswolfdogs with progressive retinal, central, and peripheral neurodegeneration. Molecular genetics and metabolism, 141(3), p. 108149. Elsevier 10.1016/j.ymgme.2024.108149
Christen, Matthias; Gregor, Anne; Gutierrez-Quintana, Rodrigo; Bongers, Jos; Rupp, Angie; Penderis, Jacques; Shelton, G Diane; Jagannathan, Vidhya; Zweier, Christiane; Leeb, Tosso (2024). NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model. Scientific Reports, 14(2975) Nature Publishing Group 10.1038/s41598-024-53314-7
Cook, Shawna R.; Schwarz, Cleo; Guevar, Julien; Assenmacher, Charles-Antoine; Sheehy, Maeve; Fanzone, Nathan; Church, Molly E.; Murgiano, Leonardo; Casal, Margret L.; Jagannathan, Vidhya; Gutierrez-Quintana, Rodrigo; Lowrie, Mark; Steffen, Frank; Leeb, Tosso; Ekenstedt, Kari J. (1 February 2024). RNF170 frameshift deletion in Miniature American Shepherd dogs with neuroaxonal dystrophy provides a naturally occurring model for human RNF170 phenotypic spectrum Research Square 10.21203/rs.3.rs-3914204/v1
Meadows, Jennifer R S; Kidd, Jefrey M; Wang, Guo-Dong; Parker, Heidi G; Schall, Peter Z; Bianchi, Matteo; Christmas, Matthew J; Bougiouri, Katia; Buckley, Reuben M; Hitte, Christophe; Nguyen, Anthony K; Wang, Chao; Jagannathan, Vidhya; Niskanen, Julia E; Frantz, Laurent A F; Arumilli, Meharji; Hundi, Sruthi; Lindblad-Toh, Kerstin; Ginja, Catarina; Agustina, Kadek Karang; ... (2023). Author Correction: Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome biology, 24(1), p. 255. BioMed Central Ltd. 10.1186/s13059-023-03101-w
Sage, Sophie E.; Leeb, Tosso; Jagannathan, Vidhya; Gerber, Vinzenz (28 October 2023). Single-cell transcriptome profiling of bronchoalveolar cells identifies a Th17 signature in severe equine asthma (Unpublished). In: The Annual ECEIM congress 2023. Lyon (F). 28.10.2023.
Kiener, Sarah; Åhman, Susanne; Jagannathan, Vidhya; Soto, Sara; Leeb, Tosso (2023). Heterozygous KRT10 missense variant in a Chihuahua with severe epidermolytic ichthyosis. Animal genetics, 54(5), pp. 652-654. Wiley 10.1111/age.13341
Kiener, Sarah; Troyer, Heather; Ruvolo, Daniel; Grest, Paula; Soto, Sara; Letko, Anna; Jagannathan, Vidhya; Leeb, Tosso; Mauldin, Elizabeth A; Yang, Ching; Rostaher, Ana (2023). Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa. Genes, 14(10) MDPI 10.3390/genes14101835
Brunetti, Barbara; Bacci, Barbara; Abbate, Jessica Maria; Tura, Giorgia; Paciello, Orlando; Vaccaro, Emanuela; Prisco, Francesco; Gandini, Gualtiero; Okonji, Samuel; Paola, Andrea di; Letko, Anna; Drögemüller, Cord; Jagannathan, Vidhya; Turba, Maria Elena; Ogundipe, Tolulope Grace; Lorenzini, Luca; Rosati, Marco; Psalla, Dimitra; Leeb, Tosso and Drögemüller, Michaela (2023). SGCD Missense Variant in a Lagotto Romagnolo Dog with Autosomal Recessively Inherited Limb-Girdle Muscular Dystrophy. Genes, 14(8) MDPI 10.3390/genes14081641
Meadows, Jennifer R S; Kidd, Jeffrey M; Wang, Guo-Dong; Parker, Heidi G; Schall, Peter Z; Bianchi, Matteo; Christmas, Matthew J; Bougiouri, Katia; Buckley, Reuben M; Hitte, Christophe; Nguyen, Anthony K; Wang, Chao; Jagannathan, Vidhya; Niskanen, Julia E; Frantz, Laurent A F; Arumilli, Meharji; Hundi, Sruthi; Lindblad-Toh, Kerstin; Ginja, Catarina; Agustina, Kadek Karang; ... (2023). Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome biology, 24(1), p. 187. BioMed Central Ltd. 10.1186/s13059-023-03023-7
Kiener, Sarah; Yang, Ching; Rich, Naomi; Jagannathan, Vidhya; Mauldin, Elizabeth A; Leeb, Tosso (2023). Heterozygous ATP2A2 missense variant identified in a Shih Tzu with Darier disease. Animal genetics, 54(4), pp. 558-561. Wiley 10.1111/age.13314
Kiener, Sarah; Castilla, Eloy; Jagannathan, Vidhya; Welle, Monika; Leeb, Tosso (2023). SDR9C7 missense variant in a Chihuahua with non-epidermolytic ichthyosis. Animal genetics, 54(4), pp. 562-565. Wiley 10.1111/age.13319
Christen, Matthias; Zdora, Isabel; Leschnik, Michael; Jagannathan, Vidhya; Puff, Christina; Hünerfauth, Enrice; Volk, Holger A; Baumgärtner, Wolfgang; Koch, Tessa C; Schäfer, Wencke; Kleiter, Miriam; Leeb, Tosso (2023). RALGAPA1 Deletion in Belgian Shepherd Dogs with Cerebellar Ataxia. Genes, 14(8) MDPI 10.3390/genes14081520
Drögemüller, Michaela; Klein, Nadine; Steffensen, Rikke Lill; Keiner, Miriam; Jagannathan, Vidhya; Leeb, Tosso (2023). PKD1 Nonsense Variant in a Lagotto Romagnolo Family with Polycystic Kidney Disease. Genes, 14(6) MDPI 10.3390/genes14061210
Christen, Matthias; Gutierrez-Quintana, Rodrigo; Green, Matthew; Faller, Kiterie M E; Lowrie, Mark; Rusbridge, Clare; Bossens, Kenny; Mellersh, Cathryn; Pettitt, Louise; Heinonen, Tiina; Lohi, Hannes; Jagannathan, Vidhya; Leeb, Tosso (2023). A TNR Frameshift Variant in Weimaraner Dogs with an Exercise-Induced Paroxysmal Movement Disorder. Movement disorders, 38(6), pp. 1094-1099. Wiley 10.1002/mds.29391
Lourdes Frehner, Bianca; Christen, Matthias; Reichler, Iris M; Jagannathan, Vidhya; Novacco, Marilisa; Riond, Barbara; Peters, Laureen M; Suárez Sánchez-Andrade, José; Pieńkowska-Schelling, Aldona; Schelling, Claude; Kipar, Anja; Leeb, Tosso; Balogh, Orsolya (2023). Autosomal recessive hyposegmentation of granulocytes in Australian Shepherd Dogs indicates a role for LMBR1L in myeloid leukocytes. PLoS genetics, 19(6), e1010805. Public Library of Science 10.1371/journal.pgen.1010805
Gutierrez-Quintana, Rodrigo; Christen, Matthias; Faller, Kiterie M E; Guevar, Julien; Jagannathan, Vidhya; Leeb, Tosso (2023). Response to letter regarding "SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain". Journal of veterinary internal medicine, 37(3), p. 793. Wiley 10.1111/jvim.16707
Kiener, Sarah; McMahill, Barbara G; Affolter, Verena K; Welle, Monika; Yager, Julie A; Jagannathan, Vidhya; Leeb, Tosso (2023). SOAT1 missense variant in two cats with sebaceous gland dysplasia. Molecular genetics and genomics : MGG, 298(4), pp. 837-843. Springer 10.1007/s00438-023-02020-6
Jenni, Sophia; Ludwig-Peisker, Odette; Jagannathan, Vidhya; Lapsina, Sandra; Stirn, Martina; Hofmann-Lehmann, Regina; Bogdanov, Nikolay; Schetle, Nelli; Giger, Urs; Leeb, Tosso; Bogdanova, Anna (2023). Methemoglobinemia, Increased Deformability and Reduced Membrane Stability of Red Blood Cells in a Cat with a CYB5R3 Splice Defect. Cells, 12(7) MDPI 10.3390/cells12070991
Letko, Anna; Hédan, Benoît; Snell, Anna; Harris, Alexander C; Jagannathan, Vidhya; Andersson, Göran; Holst, Bodil S; Ostrander, Elaine A; Quignon, Pascale; André, Catherine; Leeb, Tosso (2023). Genomic Diversity and Runs of Homozygosity in Bernese Mountain Dogs. Genes, 14(3) MDPI 10.3390/genes14030650
Christen, Matthias; Gonzalo-Nadal, Veronica; Kaczmarska, Adriana; Dyrka, Magdalena; Guevar, Julien; Jagannathan, Vidhya; Leeb, Tosso; Gutierrez-Quintana, Rodrigo (2023). A novel missense variant in the L2HGDH gene in a cat with L-2-hydroxyglutaric aciduria and multicystic cerebral lesions. Journal of veterinary internal medicine, 37(2), pp. 676-680. Wiley 10.1111/jvim.16675
Abitbol, Marie; Jagannathan, Vidhya; Lopez, Marie; Courtin, Ambre; Dufaure de Citres, Caroline; Gache, Vincent; Leeb, Tosso (2023). A CDH23 missense variant in Beauceron dogs with non-syndromic deafness. Animal genetics, 54(1), pp. 73-77. Wiley 10.1111/age.13273
Gutierrez-Quintana, Rodrigo; Christen, Matthias; Faller, Kiterie M E; Guevar, Julien; Jagannathan, Vidhya; Leeb, Tosso (2023). SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain. Journal of veterinary internal medicine, 37(1), pp. 230-235. Wiley 10.1111/jvim.16610
Hilton, Stephanie; Christen, Matthias; Bilzer, Thomas; Jagannathan, Vidhya; Leeb, Tosso; Giger, Urs (2023). Dystrophin (DMD) Missense Variant in Cats with Becker-Type Muscular Dystrophy. International journal of molecular sciences, 24(4), p. 3192. MDPI 10.3390/ijms24043192
Christen, Matthias; Ludwig-Peisker, Odette; Jagannathan, Vidhya; Hetzel, Udo; Schönball, Ulrike; Leeb, Tosso (2023). STK36 splice site variant in an Australian Shepherd dog with primary ciliary dyskinesia. Animal genetics, 54(3), pp. 412-415. Wiley 10.1111/age.13306
Batcher, Kevin; Varney, Scarlett; Raudsepp, Terje; Jevit, Matthew; Dickinson, Peter; Jagannathan, Vidhya; Leeb, Tosso; Bannasch, Danika (2023). Ancient segmentally duplicated LCORL retrocopies in equids. PLoS ONE, 18(6), e0286861. Public Library of Science 10.1371/journal.pone.0286861
Dell'Apa, Diletta; Fumeo, Martina; Volta, Antonella; Bernardini, Marco; Fidanzio, Francesca; Buffagni, Valentina; Christen, Matthias; Jagannathan, Vidhya; Leeb, Tosso; Bianchi, Ezio (2023). Case report: Sacral agenesis in two boxer dogs: clinical presentation, diagnostic investigations, and outcome. Frontiers in veterinary science, 10, p. 1201484. Frontiers Media 10.3389/fvets.2023.1201484
Abitbol, Marie; Jagannathan, Vidhya; Laurent, Nelly; Noblet, Eglantine; Dutil, Guillaume F.; Troupel, Thibaut; de Dufaure de Citres, Caroline; Gache, Vincent; Blot, Stéphane; Escriou, Catherine; Leeb, Tosso (2022). A PNPLA8 frameshift variant in Australian shepherd dogs with hereditary ataxia. Animal genetics, 53(5), pp. 709-712. Wiley 10.1111/age.13245
Christen, Matthias; Gutierrez-Quintana, Rodrigo; Vandenberghe, Helene; Kaczmarska, Adriana; Penderis, Jacques; José-López, Roberto; Rupp, Angie; Griffiths, Ian R; Jagannathan, Vidhya; Leeb, Tosso (2022). Mitochondrial fission factor (MFF) frameshift variant in Bullmastiffs with mitochondrial fission encephalopathy. Animal genetics, 53(6), pp. 814-820. Wiley 10.1111/age.13263
Kiener, Sarah; Mauldin, Elizabeth A; Jagannathan, Vidhya; Casal, Margret L; Leeb, Tosso (2022). KRT5 missense variant in a Cardigan Welsh Corgi with epidermolysis bullosa simplex. Animal genetics, 53(6), pp. 892-896. Wiley 10.1111/age.13257
Kiener, Sarah; Chevallier, Lucie; Jagannathan, Vidhya; Briand, Amaury; Cochet-Faivre, Noëlle; Reyes-Gomez, Edouard; Leeb, Tosso (2022). A COL5A2 In-Frame Deletion in a Chihuahua with Ehlers-Danlos Syndrome. Genes, 13(5) MDPI 10.3390/genes13050934
Neradilová, Silvie; Schauer, Alexandria Marie; Hayward, Jessica J; Brunner, Magdalena Anna Theresa; Bohutínská, Magdalena; Jagannathan, Vidhya; Connell, Laurie B; Boyko, Adam R; Welle, Monika M; Černá Bolfíková, Barbora (2022). Genomic and Transcriptomic Characterization of Atypical Recurrent Flank Alopecia in the Cesky Fousek. Genes, 13(4) MDPI 10.3390/genes13040650
Kiener, Sarah; Apostolopoulos, Neoklis; Schissler, Jennifer; Hass, Pascal-Kolja; Leuthard, Fabienne; Jagannathan, Vidhya; Schuppisser, Carole; Soto, Sara; Welle, Monika; Mayer, Ursula; Leeb, Tosso; Fischer, Nina M; Kaessmeyer, Sabine (2022). Independent COL5A1 Variant in Cats with Ehlers-Danlos Syndrome. Genes, 13(5), p. 797. MDPI 10.3390/genes13050797
Kiener, Sarah; Wiener, Dominique J; Hopke, Kaitlin; Diesel, Alison B; Jagannathan, Vidhya; Mauldin, Elizabeth A; Casal, Margret L; Leeb, Tosso (2022). ABHD5 frameshift deletion in Golden Retrievers with ichthyosis. G3 Genes Genomes Genetics, 12(2) Genetics Society of America 10.1093/g3journal/jkab397
Rudd Garces, Gabriela; Christen, Matthias; Loechel, Robert; Jagannathan, Vidhya; Leeb, Tosso (2022). FYCO1 Frameshift Deletion in Wirehaired Pointing Griffon Dogs with Juvenile Cataract. Genes, 13(2), p. 334. MDPI 10.3390/genes13020334
Kiener, Sarah; Rostaher, Ana; Rüfenacht, Silvia; Jagannathan, Vidhya; Sundberg, John P.; Welle, Monika; Leeb, Tosso (2022). Independent DSG4 frameshift variants in cats with hair shaft dystrophy. Molecular genetics and genomics : MGG, 297(1), pp. 147-154. Springer 10.1007/s00438-021-01842-6
Christen, Matthias; Rupp, Stefan; Van Soens, Iris; Bhatti, Sofie F. M.; Matiasek, Kaspar; von Klopmann, Thilo; Jagannathan, Vidhya; Madden, Indiana; Batcher, Kevin; Bannasch, Danika; Leeb, Tosso (2022). SLC25A12 Missense Variant in Nova Scotia Duck Tolling Retrievers Affected by Cerebellar Degeneration—Myositis Complex (CDMC). Genes, 13(7), p. 1223. MDPI 10.3390/genes13071223
Sage, Sophie E.; Nicholson, Pamela; Peters, Laureen M.; Leeb, Tosso; Jagannathan, Vidhya; Gerber, Vinzenz (2022). Single-cell gene expression analysis of cryopreserved equine bronchoalveolar cells (In Press). Frontiers in immunology, 13 Frontiers Research Foundation 10.3389/fimmu.2022.929922
Østergård Jensen, Sarah; Christen, Matthias; Rondahl, Veronica; Holland, Christopher T.; Jagannathan, Vidhya; Leeb, Tosso; Giger, Urs (2022). EHBP1L1 Frameshift Deletion in English Springer Spaniel Dogs with Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) or Neonatal Losses. Genes, 13(9), p. 1533. MDPI 10.3390/genes13091533
Sage, Sophie Elena; Nicholson, Pamela; Leeb, Tosso; Gerber, Vinzenz; Jagannathan, Vidhya (2022). Long-Read Transcriptome of Equine Bronchoalveolar Cells. Genes, 13(10), p. 1722. MDPI 10.3390/genes13101722
Affolter, Verena K; Kiener, Sarah; Jagannathan, Vidhya; Nagle, Terry; Leeb, Tosso (2022). A de novo variant in the keratin 1 gene (KRT1) in a Chinese shar-pei dog with severe congenital cornification disorder and non-epidermolytic ichthyosis. PLoS ONE, 17(10), e0275367. Public Library of Science 10.1371/journal.pone.0275367
Ludwig-Peisker, Odette; Ansel, Emily; Schweizer, Daniela; Jagannathan, Vidhya; Loechel, Robert; Leeb, Tosso (2022). PCYT1A Missense Variant in Vizslas with Disproportionate Dwarfism. Genes, 13(12), p. 2354. MDPI 10.3390/genes13122354
Christen, Matthias; Reineking, Wencke; Beineke, Andreas; Jagannathan, Vidhya; Baumgärtner, Wolfgang; Leeb, Tosso (2021). Polyadenine insertion disrupting the G6PC1 gene in German Pinschers with glycogen storage disease type Ia (GSD1A). Animal genetics, 52(6), pp. 900-902. Wiley 10.1111/age.13146
Bannasch, Danika L.; Kaelin, Christopher B; Letko, Anna; Loechel, Robert; Hug, Petra; Jagannathan, Vidhya; Henkel, Jan; Roosje, Petra; Hytönen, Marjo K; Lohi, Hannes; Arumilli, Meharji; Minor, Katie M; Mickelson, James R; Drögemüller, Cord; Barsh, Gregory S; Leeb, Tosso (2021). Dog colour patterns explained by modular promoters of ancient canid origin. Nature ecology & evolution, 5(10), pp. 1415-1423. Nature Publishing Group 10.1038/s41559-021-01524-x
Tavares-Gomes, Leticia; Monney, Camille; Neuhaus, Géraldine; Francisco, David; Solis, Diana; Summerfield, Artur; Erny, Daniel; Jagannathan, Vidhya; Oevermann, Anna (2021). Transcriptome of microglia reveals a species-specific expression profile in bovines with conserved and new signature genes. GLIA, 69(8), pp. 1932-1949. Wiley-Blackwell 10.1002/glia.24002
Bertani, Valeria; Prioni, Simona; Di Lecce, Rosanna; Gazza, Ferdinando; Ragionieri, Luisa; Merialdi, Giuseppe; Bonilauri, Paolo; Jagannathan, Vidhya; Grassi, Sara; Cabitta, Livia; Paoli, Antonella; Morrone, Amelia; Sonnino, Sandro; Drögemüller, Cord; Cantoni, Anna Maria (2021). A pathogenic HEXA missense variant in wild boars with Tay-Sachs disease. Molecular genetics and metabolism, 133(3), pp. 297-306. Elsevier 10.1016/j.ymgme.2021.05.001
Balmer, Pierre; Hariton, William V. J.; Sayar, Beyza; Jagannathan, Vidhya; Galichet, Arnaud; Leeb, Tosso; Roosje, Petra; Müller, Eliane J. (2021). SUV39H2 epigenetic silencing controls fate conversion of epidermal stem and progenitor cells. Journal of cell biology, 220(4) Rockefeller Institute Press 10.1083/jcb.201908178
Unger, Lucia; Abril, Carlos; Gerber, Vinzenz; Jagannathan, Vidhya; Koch, Christoph; Hamza, Eman (2021). Diagnostic potential of three serum microRNAs as biomarkers for equine sarcoid disease in horses and donkeys. Journal of veterinary internal medicine, 35(1), pp. 610-619. Wiley-Blackwell 10.1111/jvim.16027
Christen, Matthias; Janzen, Nils; Fraser, Anne; Sewell, Adrian C.; Jagannathan, Vidhya; Guevar, Julien; Leeb, Tosso; Sanchez-Masian, Daniel (2021). L2HGDH Missense Variant in a Cat with L-2-Hydroxyglutaric Aciduria. Genes, 12(5), p. 682. MDPI 10.3390/genes12050682
Kiener, Sarah; Cikota, Robert; Welle, Monika; Jagannathan, Vidhya; Åhman, Susanne; Leeb, Tosso (2021). A Missense Variant in SLC39A4 in a Litter of Turkish Van Cats with Acrodermatitis Enteropathica. Genes, 12(9), p. 1309. MDPI 10.3390/genes12091309
Christen, Matthias; de le Roi, Madeleine; Jagannathan, Vidhya; Becker, Kathrin; Leeb, Tosso (2021). MYO5A Frameshift Variant in a Miniature Dachshund with Coat Color Dilution and Neurological Defects Resembling Human Griscelli Syndrome Type 1. Genes, 12(10), p. 1479. MDPI 10.3390/genes12101479
Christen, Matthias; Booij-Vrieling, Henriëtte; Oksa-Minalto, Jelena; de Vries, Cynthia; Kehl, Alexandra; Jagannathan, Vidhya; Leeb, Tosso (2021). MIA3 Splice Defect in Cane Corso Dogs with Dental-Skeletal-Retinal Anomaly (DSRA). Genes, 12(10), p. 1497. MDPI 10.3390/genes12101497
Rudd Garces, Gabriela; Turba, Maria Elena; Muracchini, Myriam; Diana, Alessia; Jagannathan, Vidhya; Gentilini, Fabio; Leeb, Tosso (2021). PRKG2 Splice Site Variant in Dogo Argentino Dogs with Disproportionate Dwarfism. Genes, 12(10), p. 1489. MDPI 10.3390/genes12101489
Christen, Matthias; Indzhova, Victoria; Guo, Ling T.; Jagannathan, Vidhya; Leeb, Tosso; Shelton, G. Diane; Brocal, Josep (2021). LAMA2 Nonsense Variant in an Italian Greyhound with Congenital Muscular Dystrophy. Genes, 12(11), p. 1823. MDPI 10.3390/genes12111823
Rudd Garces, Gabriela; Knebel, Anna; Hülskötter, Kirsten; Jagannathan, Vidhya; Störk, Theresa; Hewicker-Trautwein, Marion; Leeb, Tosso; Volk, Holger A. (2021). LTBP3 Frameshift Variant in British Shorthair Cats with Complex Skeletal Dysplasia. Genes, 12(12), p. 1923. MDPI 10.3390/genes12121923
Cosandey, Jeanne; Hamza, Eman; Gerber, Vinzenz; Ramseyer, Alessandra; Leeb, Tosso; Jagannathan, Vidhya; Blaszczyk, Klaudia; Unger, Lucia (2021). Diagnostic and prognostic potential of eight whole blood microRNAs for equine sarcoid disease. PLoS ONE, 16(12), e0261076. Public Library of Science 10.1371/journal.pone.0261076
Garcia, Teresa Maria; Kiener, Sarah; Jagannathan, Vidhya; Russell, Duncan S; Leeb, Tosso (2020). A COL7A1 Variant in a Litter of Neonatal Basset Hounds with Dystrophic Epidermolysis Bullosa. Genes, 11(12), p. 1458. MDPI 10.3390/genes11121458
Letko, Anna; Minor, Katie M; Jagannathan, Vidhya; Seefried, Franz R; Mickelson, James R; Oliehoek, Pieter; Drögemüller, Cord (2020). Correction to: Genomic diversity and population structure of the Leonberger dog breed. Genetics, selection, evolution, 52(1), p. 70. BioMed Central 10.1186/s12711-020-00590-2
Christen, Matthias; Austel, Michaela; Banovic, Frane; Jagannathan, Vidhya; Leeb, Tosso (2020). NSDHL Frameshift Deletion in a Mixed Breed Dog with Progressive Epidermal Nevi. Genes, 11(11) MDPI 10.3390/genes11111297
Drögemüller, Michaela; Letko, Anna; Matiasek, Kaspar; Jagannathan, Vidhya; Corlazzoli, Daniele; Rosati, Marco; Jurina, Konrad; Medl, Susanne; Gödde, Thomas; Rupp, Stefan; Fischer, Andrea; Luján Feliu-Pascual, Alejandro; Drögemüller, Cord (2020). SLC19A3 Loss-of-Function Variant in Yorkshire Terriers with Leigh-Like Subacute Necrotizing Encephalopathy. Genes, 11(10), p. 1215. MDPI 10.3390/genes11101215
Häfliger, Irene Monika; Behn, Holger; Freick, Markus; Jagannathan, Vidhya; Drögemüller, Cord (2019). A COL2A1 de novo variant in a Holstein bulldog calf. Animal genetics, 50(1), pp. 113-114. Blackwell 10.1111/age.12735
Unger, Lucia; Jagannathan, Vidhya; Pacholewska, Alicja; Leeb, Tosso; Gerber, Vinzenz (2019). Differences in miRNA differential expression in whole blood between horses with sarcoid regression and progression. Journal of veterinary internal medicine, 33(1), pp. 241-250. Wiley-Blackwell 10.1111/jvim.15375
Spycher, M; Bauer, Anina; Jagannathan, Vidhya; Frizzi, M; De Lucia, M; Leeb, Tosso (2018). A frameshift variant in the COL5A1 gene in a cat with Ehlers-Danlos syndrome. Animal genetics, 49(6), pp. 641-644. Wiley 10.1111/age.12727
Gallana, M; Utsunomiya, Y T; Dolf, Gaudenz; Pintor Torrecilha, R B; Falbo, A-K; Jagannathan, Vidhya; Leeb, Tosso; Reichler, I; Sölkner, J; Schelling, C (2018). Genome-wide association study and heritability estimate for ectopic ureters in Entlebucher mountain dogs. Animal genetics, 49(6), pp. 645-650. Wiley 10.1111/age.12728
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Lepori, Vincent; Mühlhause, Franziska; Sewell, Adrian C; Jagannathan, Vidhya; Janzen, Nils; Rosati, Marco; Maximiano Alves de Sousa, Filipe Miguel; Tschopp, Aurélie; Schüpbach, Gertraud; Matiasek, Kaspar; Tipold, Andrea; Leeb, Tosso; Kornberg, Marion (2018). A Nonsense Variant in the ACADVL Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy. G3 Genes Genomes Genetics, 8(5), pp. 1545-1554. Genetics Society of America 10.1534/g3.118.200084
Schmutz, Isabelle; Jagannathan, Vidhya; Dìez Bernal, Sabina; Lanz, Simone; Kalbfleisch, Ted; Leeb, Tosso; Spadavecchia, Claudia (2018). Exclusion of adrenoceptor alpha 2 variants in a horse insensitive to medetomidine. Animal genetics, 49(2), p. 141. Blackwell 10.1111/age.12636
Bauer, Anina; Nimmo, J; Newman, R; Brunner, Magdalena Anna Theresa; Welle, Monika Maria; Jagannathan, Vidhya; Leeb, Tosso (2018). A splice site variant in the SUV39H2 gene in Greyhounds with nasal parakeratosis. Animal genetics, 49(2), pp. 137-140. Blackwell 10.1111/age.12643
Bauer, Anina; Jagannathan, Vidhya; Högler, Sandra; Richter, Barbara; McEwan, Neil A; Thomas, Anne; Cadieu, Edouard; André, Catherine; Hytönen, Marjo K; Lohi, Hannes; Welle, Monika Maria; Roosje, Petra; Mellersh, Cathryn; Casal, Margret L; Leeb, Tosso (2018). MKLN1 splicing defect in dogs with lethal acrodermatitis. PLoS genetics, 14(3), e1007264. Public Library of Science 10.1371/journal.pgen.1007264
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Bauer, Anina; Kehl, A; Jagannathan, Vidhya; Leeb, Tosso (2018). A novel MLPH variant in dogs with coat colour dilution. Animal genetics, 49(1), pp. 94-97. Blackwell 10.1111/age.12632
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Pacholewska, Alicja Elzbieta; Kraft, Matthias Fabian; Gerber, Vinzenz; Jagannathan, Vidhya (2017). Differential Expression of Serum MicroRNAs Supports CD4⁺ T Cell Differentiation into Th2/Th17 Cells in Severe Equine Asthma. Genes, 8(12) MDPI 10.3390/genes8120383
Hofstetter, Sonja; Welle, Monika Maria; Gorgas, Daniela; Balmer, Pierre; Roosje, Petra; Mock, Thomas; Meylan, Mireille; Jagannathan, Vidhya; Drögemüller, Cord (2017). A de novo germline mutation of DLX3 in a Brown Swiss calf with tricho-dento-osseus-like syndrome. Veterinary dermatology, 28(6), 616-e150. Blackwell Science 10.1111/vde.12462
Herder, Vanessa; Ciurkiewicz, Malgorzata; Baumgärtner, Wolfgang; Jagannathan, Vidhya; Leeb, Tosso (2017). Frame-shift variant in the CHRNE gene in a juvenile dog with suspected myasthenia gravis-like disease. Animal genetics, 48(5), p. 625. Blackwell 10.1111/age.12558
Caduff, M; Bauer, Anina; Jagannathan, Vidhya; Leeb, Tosso (2017). A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism. Animal genetics, 48(5), pp. 619-621. Blackwell 10.1111/age.12582
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
Bauer, Anina; De Lucia, Michela; Jagannathan, Vidhya; Mezzalira, Giorgia; Casal, Margaret L; Welle, Monika Maria; Leeb, Tosso (2017). A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder. G3 Genes Genomes Genetics, 7(9), pp. 3115-3121. Genetics Society of America 10.1534/g3.117.1124
Becker, Doreen; Minor, Katie M; Letko, Anna; Ekenstedt, Kari J; Jagannathan, Vidhya; Leeb, Tosso; Shelton, G Diane; Mickelson, James R; Drögemüller, Cord (2017). A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs. BMC Genomics, 18(1), p. 662. BioMed Central 10.1186/s12864-017-4081-z
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
Agerholm, Jørgen S; McEvoy, Fintan J; Heegaard, Steffen; Charlier, Carole; Jagannathan, Vidhya; Drögemüller, Cord (2017). A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle. BMC genetics, 18(1), p. 74. BioMed Central 10.1186/s12863-017-0541-3
Dürig, Nicole; Jude, R; Holl, H; Brooks, S A; Lafayette, C; Jagannathan, Vidhya; Leeb, Tosso (2017). Whole genome sequencing reveals a novel deletion variant in the KIT gene in horses with white spotted coat colour phenotypes. Animal genetics, 48(4), pp. 483-485. Blackwell 10.1111/age.12556
Schaefer, Robert J; Schubert, Mikkel; Bailey, Ernest; Bannasch, Danika L; Barrey, Eric; Bar-Gal, Gila Kahila; Brem, Gottfried; Brooks, Samantha A; Distl, Ottmar; Fries, Ruedi; Finno, Carrie J; Gerber, Vinzenz; Haase, Bianca; Jagannathan, Vidhya; Kalbfleisch, Ted; Leeb, Tosso; Lindgren, Gabriella; Lopes, Maria Susana; Mach, Núria; da Câmara Machado, Artur; ... (2017). Developing a 670k genotyping array to tag ~2M SNPs across 24 horse breeds. BMC Genomics, 18(1), p. 565. BioMed Central 10.1186/s12864-017-3943-8
Wallner, Barbara; Palmieri, Nicola; Vogl, Claus; Rigler, Doris; Bozlak, Elif; Druml, Thomas; Jagannathan, Vidhya; Leeb, Tosso; Fries, Ruedi; Tetens, Jens; Thaller, Georg; Metzger, Julia; Distl, Ottmar; Lindgren, Gabriella; Rubin, Carl-Johan; Andersson, Leif; Schaefer, Robert; McCue, Molly; Neuditschko, Markus; Rieder, Stefan; ... (2017). Y Chromosome Uncovers the Recent Oriental Origin of Modern Stallions. Current Biology, 27(13), pp. 2029-2035. Cell Press 10.1016/j.cub.2017.05.086
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Bauer, Anina Estrella; Hiemesch, Theresa; Jagannathan, Vidhya; Neuditschko, Markus; Bachmann, Iris; Rieder, Stefan; Mikko, Sofia; Penedo, M Cecilia; Tarasova, Nadja; Vitková, Martina; Sirtori, Nicolò; Roccabianca, Paola; Leeb, Tosso; Welle, Monika Maria (2017). A Nonsense Variant in the ST14 Gene in Akhal-Teke Horses with Naked Foal Syndrome. G3 Genes Genomes Genetics, 7(4), pp. 1315-1321. Genetics Society of America 10.1534/g3.117.039511
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
Dürig, Nicole; Jude, Rony; Jagannathan, Vidhya; Leeb, Tosso (2017). A novel MITF variant in a white American Standardbred foal. Animal genetics, 48(1), pp. 123-124. Blackwell 10.1111/age.12484
Pacholewska, Alicja; Marti, Eliane Isabelle; Leeb, Tosso; Jagannathan, Vidhya; Gerber, Vinzenz (2017). LPS-induced modules of co-expressed genes in equine peripheral blood mononuclear cells. BMC Genomics, 18(1), p. 34. BioMed Central 10.1186/s12864-016-3390-y
Wucher, Valentin; Legeai, Fabrice; Hédan, Benoît; Rizk, Guillaume; Lagoutte, Lætitia; Leeb, Tosso; Jagannathan, Vidhya; Cadieu, Edouard; David, Audrey; Lohi, Hannes; Cirera, Susanna; Fredholm, Merete; Botherel, Nadine; Leegwater, Peter A J; Le Béguec, Céline; Fieten, Hille; Johnson, Jeremy; Alföldi, Jessica; André, Catherine; Lindblad-Toh, Kerstin; ... (2017). FEELnc: a tool for long non-coding RNA annotation and its application to the dog transcriptome. Nucleic acids research, 45(8), e57. Information Retrieval Ltd. 10.1093/nar/gkw1306
Awasthi, Nivedita; Drögemüller, Cord; Jagannathan, Vidhya; Keller, Irene; Wüthrich, Daniel; Bruggmann, Rémy; Beck, Julia; Schütz, Ekkehard; Brenig, Bertram; Demmel, Steffi; Moser, Simon; Signer-Hasler, Heidi; Pieńkowska-Schelling, Aldona; Schelling, Claude; Sande Melon, Marcos; Rongen, Ronald; Rieder, Stefan; Kelsh, Robert N.; Mercader Huber, Nadia and Leeb, Tosso (2017). A structural variant in the 5’-flanking region of the TWIST2 gene affects melanocyte development in belted cattle. PLoS ONE, 12(6), e0180170. Public Library of Science 10.1371/journal.pone.0180170
Balmer, Pierre; Bauer, Anina Estrella; Pujar, Shashikant; McGarvey, Kelly M; Welle, Monika Maria; Galichet, Arnaud; Müller, Eliane Jasmine; Pruitt, Kim D; Leeb, Tosso; Jagannathan, Vidhya (2017). A curated catalog of canine and equine keratin genes. PLoS ONE, 12(8), e0180359. Public Library of Science 10.1371/journal.pone.0180359
Caduff, Madleina; Bauer, Anina Estrella; Jagannathan, Vidhya; Leeb, Tosso (2017). OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism. PLoS ONE, 12(10), e0185944. Public Library of Science 10.1371/journal.pone.0185944
Brunner, Magdalena; Jagannathan, Vidhya; Waluk, Dominik Pawel; Roosje, Petra; Linek, Monika; Panakova, Lucia; Leeb, Tosso; Wiener, Dominique Judith; Welle, Monika Maria (2017). Novel insights into the pathways regulating the canine hair cycle and their deregulation in alopecia X. PLoS ONE, 12(10), e0186469. Public Library of Science 10.1371/journal.pone.0186469
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
Murgiano, Leonardo; Jagannathan, Vidhya; Piffer, Christian; Diez-Prieto, Inmaculada; Bolcato, Marilena; Gentile, Arcangelo; Drögemüller, Cord (2016). A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle. BMC veterinary research, 12(276), p. 276. BioMed Central 10.1186/s12917-016-0904-4
Waluk, Dominik Pawel; Zur, Gila; Kaufmann, Ronnie; Welle, Monika Maria; Jagannathan, Vidhya; Drögemüller, Cord; Müller, Eliane Jasmine; Leeb, Tosso; Galichet, Arnaud (2016). A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype. G3 Genes Genomes Genetics, 6(9), pp. 2949-2954. Genetics Society of America 10.1534/g3.116.033225
Murgiano, Leonardo; Waluk, Dominik Pawel; Towers, Rachel; Wiedemar, Natalie; Dietrich, Sara Joëlle; Jagannathan, Vidhya; Drögemüller, Michaela; Balmer, Pierre; Druet, Tom; Galichet, Arnaud; Penedo, M Cecilia; Müller, Eliane Jasmine; Roosje, Petra; Welle, Monika Maria; Leeb, Tosso (2016). An Intronic MBTPS2 Variant Results in a Splicing Defect in Horses with Brindle Coat Texture. G3 Genes Genomes Genetics, 6(9), pp. 2963-2970. Genetics Society of America 10.1534/g3.116.032433
Doelle, Maren; Linder, Keith E; Boche, Janna; Jagannathan, Vidhya; Leeb, Tosso; Linek, Monika (2016). Initial characterization of stiff skin-like syndrome in West Highland white terriers. Veterinary dermatology, 27(3), 210-e53. Blackwell Science 10.1111/vde.12316
Karli, Philemon; Oevermann, Anna; Bauer, Anina Estrella; Jagannathan, Vidhya; Leeb, Tosso (2016). MFSD8 single-base pair deletion in a Chihuahua with neuronal ceroid lipofuscinosis. Animal genetics, 47(5), p. 631. Blackwell 10.1111/age.12449
Hytönen, Marjo K; Arumilli, Meharji; Lappalainen, Anu K; Owczarek, Marta; Jagannathan, Vidhya; Hundi, Sruthi; Salmela, Elina; Venta, Patrick; Sarkiala, Eva; Jokinen, Tarja; Gorgas, Daniela; Kere, Juha; Nieminen, Pekka; Drögemüller, Cord; Lohi, Hannes (2016). Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PLoS genetics, 12(5), e1006037. Public Library of Science 10.1371/journal.pgen.1006037
Murgiano, Leonardo; Shirokova, Vera; Welle, Monika Maria; Jagannathan, Vidhya; Plattet, Philippe; Oevermann, Anna; Pienkowska-Schelling, Aldona; Gallo, Daniele; Gentile, Arcangelo; Mikkola, Marja L; Drögemüller, Cord (2016). Correction: Hairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation. PLoS genetics, 12(5), e1005688. Public Library of Science 10.1371/journal.pgen.1005688
Brinkmann, J; Jagannathan, Vidhya; Drögemüller, Cord; Rieder, S; Leeb, Tosso; Thaller, G; Tetens, J (2016). Genetic variability of the equine casein genes. Journal of dairy science, 99(7), pp. 5486-5497. American Dairy Science Association 10.3168/jds.2015-10652
Menzi, Fiona; Besuchet Schmutz, Nathalie; Fragnière, Muriel; Hofstetter, S; Jagannathan, Vidhya; Mock, Thomas; Raemy, Andreas; Studer, Eveline; Mehinagic, Kemal; Regenscheit, Nadine; Meylan, Mireille; Schmitz-Hsu, F; Drögemüller, Cord (2016). A transposable element insertion in APOB causes cholesterol deficiency in Holstein cattle. Animal genetics, 47(2), pp. 253-257. Blackwell 10.1111/age.12410
Sayyab, Shumaila; Viluma, Agnese; Bergvall, Kerstin; Brunberg, Emma; Jagannathan, Vidhya; Leeb, Tosso; Andersson, Göran; Bergström, Tomas F (2016). Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad Hyperkeratosis. G3 Genes Genomes Genetics, 6(3), pp. 521-527. Genetics Society of America 10.1534/g3.115.025643
Brinkmann, J.; Jagannathan, Vidhya; Drögemüller, Cord; Rieder, S.; Leeb, Tosso; Thaller, G.; Tetens, J. (2016). DNA-based analysis of protein variants reveals different genetic variability of the paralogous equine ß-lactoglobulin genes LGB1 and LGB2. Livestock science, 187, pp. 181-185. Elsevier 10.1016/j.livsci.2016.03.014
Agerholm, Jørgen S.; Menzi, Fiona; McEvoy, Fintan J.; Jagannathan, Vidhya; Drögemüller, Cord (2016). Lethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1. BMC veterinary research, 12(1), p. 100. BioMed Central 10.1186/s12917-016-0739-z
Agerholm, Jørgen S.; McEvoy, Fintan J.; Menzi, Fiona; Jagannathan, Vidhya; Drögemüller, Cord (2016). A CHRNB1 frameshift mutation is associated with familial arthrogryposis multiplex congenita in Red dairy cattle. BMC Genomics, 17(1) BioMed Central 10.1186/s12864-016-2832-x
Murgiano, Leonardo; Wiedemar, Natalie; Jagannathan, Vidhya; Isling, Louise K; Drögemüller, Cord; Agerholm, Jørgen S (2015). Epidermolysis bullosa in Danish Hereford calves is caused by a deletion in LAMC2 gene. BMC veterinary research, 11(1), p. 334. BioMed Central 10.1186/s12917-015-0334-8
Peters, Martin; Reber, Irene; Jagannathan, Vidhya; Raddatz, Barbara; Wohlsein, Peter; Drögemüller, Cord (2015). DNA-based diagnosis of rare diseases in veterinary medicine: a 4.4 kb deletion of ITGB4 is associated with epidermolysis bullosa in Charolais cattle. BMC veterinary research, 11(1), p. 366. BioMed Central 10.1186/s12917-015-0366-0
Librado, Pablo; Der Sarkissian, Clio; Ermini, Luca; Schubert, Mikkel; Jónsson, Hákon; Albrechtsen, Anders; Fumagalli, Matteo; Yang, Melinda A.; Gamba, Cristina; Seguin-Orlando, Andaine; Mortensen, Cecilie D.; Petersen, Bent; Hoover, Cindi A.; Lorente-Galdos, Belen; Nedoluzhko, Artem; Boulygina, Eugenia; Tsygankova, Svetlana; Neuditschko, Markus; Jagannathan, Vidhya; Thèves, Catherine; ... (2015). Tracking the origins of Yakutian horses and the genetic basis for their fast adaptation to subarctic environments. Proceedings of the National Academy of Sciences of the United States of America - PNAS, 112(50), E6889-E6897. National Academy of Sciences NAS 10.1073/pnas.1513696112
Wiedmer, Michaela; Oevermann, Anna; Borer, Stephanie; Gorgas, Daniela; Shelton, G. Diane; Drögemüller, Michaela; Jagannathan, Vidhya; Henke, Diana; Leeb, Tosso (2015). A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1). G3 Genes Genomes Genetics, 6(2), pp. 255-262. Genetics Society of America 10.1534/g3.115.022707
Hahn, Kerstin Caroline; Rohdin, Cecilia; Jagannathan, Vidhya; Wohlsein, Peter; Baumgärtner, Wolfgang; Seehusen, Frauke; Spitzbarth, Ingo; Grandon, Rodrigo; Drögemüller, Cord; Jäderlund, Karin Hultin (2015). TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. PLoS ONE, 10(11), e0141824. Public Library of Science 10.1371/journal.pone.0141824
Der Sarkissian, Clio; Ermini, Luca; Schubert, Mikkel; Yang, Melinda A; Librado, Pablo; Fumagalli, Matteo; Jónsson, Hákon; Bar-Gal, Gila Kahila; Albrechtsen, Anders; Vieira, Filipe G; Petersen, Bent; Ginolhac, Aurélien; Seguin-Orlando, Andaine; Magnussen, Kim; Fages, Antoine; Gamba, Cristina; Lorente-Galdos, Belen; Polani, Sagi; Steiner, Cynthia; Neuditschko, Markus; ... (2015). Evolutionary Genomics and Conservation of the Endangered Przewalski's Horse. Current Biology, 25(19), pp. 2577-2583. Cell Press 10.1016/j.cub.2015.08.032
Steffen, Frank; Bilzer, Thomas; Brands, Jan; Golini, Lorenzo; Jagannathan, Vidhya; Wiedmer, Michaela; Drögemüller, Michaela; Drögemüller, Cord; Leeb, Tosso (2015). A Nonsense Variant in COL6A1 in Landseer Dogs with Muscular Dystrophy. G3 Genes Genomes Genetics, 5(12), pp. 2611-2617. Genetics Society of America 10.1534/g3.115.021923
Pacholewska, Alicja Elzbieta; Jagannathan, Vidhya; Drögemüller, Michaela; Klukowska-Rötzler, Jolanta; Lanz, Simone; Hamza, Eman; Dermitzakis, Emmanouil T; Marti, Eliane Isabelle; Leeb, Tosso; Gerber, Vinzenz (2015). Impaired Cell Cycle Regulation in a Natural Equine Model of Asthma. PLoS ONE, 10(8), e0136103. Public Library of Science 10.1371/journal.pone.0136103
Wiedemar, Natalie; Riedi, Anna-Katharina; Jagannathan, Vidhya; Drögemüller, Cord; Meylan, Mireille (2015). Genetic Abnormalities in a Calf with Congenital Increased Muscular Tonus. Journal of veterinary internal medicine, 29(5), pp. 1418-1421. Wiley-Blackwell 10.1111/jvim.13599
Haase, Bianca; Jagannathan, Vidhya; Rieder, Stefan; Leeb, Tosso (2015). A novel KIT variant in an Icelandic horse with white-spotted coat colour. Animal genetics, 46(4), p. 466. Blackwell 10.1111/age.12313
Decker, Brennan; Davis, Brian W; Rimbault, Maud; Long, Adrienne H; Karlins, Eric; Parker, Heidi G; Jagannathan, Vidhya; Reiman, Rebecca; Drögemüller, Cord; Corneveaux, Jason J; Chapman, Erica S; Trent, Jeffery M; Leeb, Tosso; Huentelman, Matthew J; Wayne, Robert K; Karyadi, Danielle M; Ostrander, Elaine A (2015). Comparison against 186 canid whole genome sequences reveals survival strategies of an ancient clonally transmissible canine tumor. Genome research, 25(11), pp. 1646-1655. Cold Spring Harbor, N.Y 10.1101/gr.190314.115
Murgiano, Leonardo; Shirokova, Vera; Welle, Monika Maria; Jagannathan, Vidhya; Plattet, Philippe; Oevermann, Anna; Pienkowska-Schelling, Aldona; Gallo, Daniele; Gentile, Arcangelo; Mikkola, Marja; Drögemüller, Cord (2015). Hairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation. PLoS genetics, 11(7), e1005427. Public Library of Science 10.1371/journal.pgen.1005427
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
Pacholewska, Alicja Elzbieta; Drögemüller, Michaela; Klukowska, Jolanta; Lanz, Simone; Hamza, Eman; Dermitzakis, Emmanouil T; Marti, Eliane Isabelle; Gerber, Vinzenz; Leeb, Tosso; Jagannathan, Vidhya (2015). The transcriptome of equine peripheral blood mononuclear cells. PLoS ONE, 10(3), e0122011. Public Library of Science 10.1371/journal.pone.0122011
Gerber, Martina; Fischer, Andrea; Jagannathan, Vidhya; Drögemüller, Michaela; Drögemüller, Cord; Schmidt, Martin J; Bernardino, Filipa; Manz, Eberhard; Matiasek, Kaspar; Rentmeister, Kai; Leeb, Tosso (2015). A Deletion in the VLDLR Gene in Eurasier Dogs with Cerebellar Hypoplasia Resembling a Dandy-Walker-Like Malformation (DWLM). PLoS ONE, 10(2), e0108917. Public Library of Science 10.1371/journal.pone.0108917
Tassano, Elisa; Jagannathan, Vidhya; Drögemüller, Cord; Leoni, Massimiliano; Hytönen, Marjo K; Severino, Mariasavina; Gimelli, Stefania; Cuoco, Cristina; Rocco, Maja Di; Sanio, Kirsi; Groves, Andrew K; Leeb, Tosso; Gimelli, Giorgio (2015). Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion. American journal of medical genetics. Part A, 167(3), pp. 537-544. Wiley-Liss 10.1002/ajmg.a.36895
Drögemüller, Michaela; Jagannathan, Vidhya; Dolf, Gaudenz; Butenhoff, Karin; Kottmann-Berger, Suzanne; Wess, Gerhard; Leeb, Tosso (2015). A single codon insertion in the PICALM gene is not associated with subvalvular aortic stenosis in Newfoundland dogs. Human genetics, 134(1), pp. 127-129. Springer 10.1007/s00439-014-1506-5
Rupp, Sebastian; Aguilar Bultet, Lisandra; Jagannathan, Vidhya; Guldimann, Claudia; Drögemüller, Cord; Pfarrer, Christiane; Vidondo, Beatriz; Seuberlich, Torsten; Frey, Joachim; Oevermann, Anna (2015). A naturally occurring prfA truncation in a Listeria monocytogenes field strain contributes to reduced replication and cell-to-cell spread. Veterinary microbiology, 179(1-2), pp. 91-101. Elsevier 10.1016/j.vetmic.2015.03.002
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; Jagannathan, Vidhya; Leeb, Tosso (2014). Whole genome sequencing confirms KIT insertions in a white cat. Animal genetics, 46(1), p. 98. Blackwell 10.1111/age.12246
Drögemüller, Michaela; Jagannathan, Vidhya; Welle, Monika Maria; Graubner, Claudia; Straub, Reto; Gerber, Vinzenz; Burger, Dominik; Signer-Hasler, Heidi; Poncet, Pierre-André; Klopfenstein, Stéphane; von Niederhäusern, Ruedi; Tetens, Jens; Rieder, Stefan; Thaller, Georg; Drögemüller, Cord; Leeb, Tosso (2014). Congenital Hepatic Fibrosis in the Franches-Montagnes Horse Is Associated with the Polycystic Kidney and Hepatic Disease 1 (PKHD1) Gene. PLoS ONE, 9(10), e1004635. Public Library of Science 10.1371/journal.pone.0110125
Murgiano, Leonardo; Jagannathan, Vidhya; Benazzi, Cinzia; Bolcato, Marilena; Brunetti, Barbara; Muscatello, Luisa Vera; Dittmer, Keren; Piffer, Christian; Gentile, Arcangelo; Drögemüller, Cord (2014). Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean Grey cattle. PLoS ONE, 9(4), e94861. Public Library of Science 10.1371/journal.pone.0094861
Drögemüller, Michaela; Jagannathan, Vidhya; Howard, J.; Bruggmann, Rémy; Drögemüller, Cord; Ruetten, Maja; Leeb, Tosso; Kook, Peter H. (2014). A frameshift mutation in the cubilin gene (CUBN) in Beagles with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption). Animal genetics, 45(1), pp. 148-150. Blackwell 10.1111/age.12094
Drögemüller, Michaela; Jagannathan, Vidhya; Becker, Doreen; Drögemüller, Cord; Schelling, Claude; Plassais, Jocelyn; Kaerle, Cécile; Dufaure de Citres, Caroline; Thomas, Anne; Müller, Eliane Jasmine; Welle, Monika Maria; Roosje, Petra; Leeb, Tosso (2014). A mutation in the FAM83G gene in dogs with hereditary footpad hyperkeratosis (HFH). PLoS genetics, 10(5), e1004370. Public Library of Science 10.1371/journal.pgen.1004370
Wiedemar, Natalie; Tetens, Jens; Jagannathan, Vidhya; Menoud, Annie; Neuenschwander, Samuel; Bruggmann, Rémy; Thaller, Georg; Drögemüller, Cord (2014). Independent polled mutations leading to complex gene expression differences in cattle. PLoS ONE, 9(3), e93435. Public Library of Science 10.1371/journal.pone.0093435
Murgiano, Leonardo; Jagannathan, Vidhya; Calderoni, Valerio; Joechler, Monika; Gentile, Arcangelo; Drögemüller, Cord (2014). Looking the cow in the eye: deletion in the NID1 gene is associated with recessive inherited cataract in Romagnola cattle. PLoS ONE, 9(10), e110628. Public Library of Science 10.1371/journal.pone.0110628
Frischknecht, Mirjam; Neuditschko, Markus; Jagannathan, Vidhya; Drögemüller, Cord; Tetens, Jens; Thaller, Georg; Leeb, Tosso; Rieder, Stefan (2014). Imputation of sequence level genotypes in the Franches-Montagnes horse breed. Genetics, selection, evolution, 46(1), p. 63. BioMed Central 10.1186/s12711-014-0063-7
Shakhsi Niaei, Mostafa; Drögemüller, Michaela; Jagannathan, Vidhya; Gerber, Vinzenz; Leeb, Tosso (2013). IL26 gene inactivation in Equidae. Animal genetics, 44(6), pp. 770-772. Blackwell 10.1111/age.12069
Bruggmann, Rémy; Jagannathan, Vidhya; Braunschweig, Martin (2013). In search of epigenetic marks in testes and sperm cells of differentially fed boars. PLoS ONE, 8(11), e78691. Public Library of Science 10.1371/journal.pone.0078691
Towers, Rachel E; Murgiano, Leonardo; Millar, David S; Glen, Elise; Topf, Ana; Jagannathan, Vidhya; Drögemüller, Cord; Goodship, Judith A; Clarke, Angus J; Leeb, Tosso (2013). A Nonsense Mutation in the IKBKG Gene in Mares with Incontinentia Pigmenti. PLoS ONE, 8(12), e81625. Public Library of Science 10.1371/journal.pone.0081625
Jagannathan, Vidhya; Bannoehr, Jeanette; Plattet, Philippe; Hauswirth, Regula; Drögemüller, Cord; Drögemüller, Michaela; Wiener, Dominique Judith; Doherr, Marcus; Owczarek-Lipska, Marta; Galichet, Arnaud; Welle, Monika Maria; Tengvall, Katarina; Bergvall, Kerstin; Lohi, Hannes; Rüfenacht, Silvia; Linek, Monika; Paradis, Manon; Müller, Eliane Jasmine; Roosje, Petra and Leeb, Tosso (2013). A mutation in the SUV39H2 gene in Labrador Retrievers with hereditary nasal parakeratosis (HNPK) provides insights into the epigenetics of keratinocyte differentiation. PLoS genetics, 9(10), e1003848. Public Library of Science 10.1371/journal.pgen.1003848
Owczarek-Lipska, Marta; Jagannathan, Vidhya; Drögemüller, Cord; Lutz, Sabina; Glanemann, Barbara; Leeb, Tosso; Kook, Peter H. (2013). A frameshift mutation in the cubilin gene (CUBN) in Border Collies with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption). PLoS ONE, 8(4), e61144. Public Library of Science 10.1371/journal.pone.0061144
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
Owczarek-Lipska, Marta; Lauber, Béatrice; Molitor, Vivianne; Meury, Sabrina; Kierczak, Marcin; Tengvall, Katarina; Webster, Matthew T.; Jagannathan, Vidhya; Schlotter, Yvette; Willemse, Ton; Hendricks, Anke; Bergvall, Kerstin; Hedhammar, Åke; Andersson, Göran; Lindblad-Toh, Kerstin; Favrot, Claude; Roosje, Petra; Marti, Eliane; Leeb, Tosso and Singh, Shree Ram (2012). Two Loci on Chromosome 5 Are Associated with Serum IgE Levels in Labrador Retrievers. PLoS ONE, 7(6), e39176. Public Library of Science 10.1371/journal.pone.0039176
