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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
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
Niskanen, Julia E; Ohlsson, Åsa; Ljungvall, Ingrid; Drögemüller, Michaela; Ernst, Robert F; Dooijes, Dennis; van Deutekom, Hanneke W M; van Tintelen, J Peter; Snijders Blok, Christian J B; van Vugt, Marion; van Setten, Jessica; Asselbergs, Folkert W; Petrič, Aleksandra Domanjko; Salonen, Milla; Hundi, Sruthi; Hörtenhuber, Matthias; Kere, Juha; Pyle, W Glen; Donner, Jonas; Postma, Alex V; ... (2023). Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human. Genome medicine, 15(1), p. 73. BioMed Central 10.1186/s13073-023-01221-3
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
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
Charalambous, Marios; Fischer, Andrea; Potschka, Heidrun; Walker, Matthew C; Raedt, Robrecht; Vonck, Kristl; Boon, Paul; Lohi, Hannes; Löscher, Wolfgang; Worrell, Gregory; Leeb, Tosso; McEvoy, Andrew; Striano, Pasquale; Kluger, Gerard; Galanopoulou, Aristea S; Volk, Holger A; Bhatti, Sofie F M (2023). Translational veterinary epilepsy: A win-win situation for human and veterinary neurology. Veterinary journal, 293(105956), p. 105956. Elsevier 10.1016/j.tvjl.2023.105956
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
Quitt, Pia R; Brühschwein, Andreas; Matiasek, Kaspar; Wielaender, Franziska; Karkamo, Veera; Hytönen, Marjo K; Meyer-Lindenberg, Andrea; Dengler, Berett; Leeb, Tosso; Lohi, Hannes; Fischer, Andrea (2021). A hypomyelinating leukodystrophy in German Shepherd dogs. Journal of veterinary internal medicine, 35(3), pp. 1455-1465. Wiley-Blackwell 10.1111/jvim.16085
Syrjä, Pernilla; Palviainen, Mari; Jokinen, Tarja; Kyöstilä, Kaisa; Lohi, Hannes; Roosje, Petra; Anderegg, Linda; Leeb, Tosso; Sukura, Antti; Eskelinen, Eeva-Liisa (2020). Altered Basal Autophagy Affects Extracellular Vesicle Release in Cells of Lagotto Romagnolo Dogs With a Variant ATG4D. Veterinary pathology, 57(6), pp. 926-935. Sage 10.1177/0300985820959243
Letko, Anna; Leuthard, Fabienne; Jagannathan, Vidya; Corlazzoli, Daniele; Matiasek, Kaspar; Schweizer, Daniela; Hytönen, Marjo K; Lohi, Hannes; Leeb, Tosso; Drögemüller, Cord (2020). Whole Genome Sequencing Indicates Heterogeneity of Hyperostotic Disorders in Dogs. Genes, 11(2) MDPI 10.3390/genes11020163
Leeb, Tosso; Leuthard, Fabienne; Jagannathan, Vidya; Kiener, Sarah; Letko, Anna; Roosje, Petra; Welle, Monika M.; Gailbreath, Katherine L; Cannon, Andrea; Linek, Monika; Banovic, Frane; Olivry, Thierry; White, Stephen D; Batcher, Kevin; Bannasch, Danika; Minor, Katie M; Mickelson, James R; Hytönen, Marjo K; Lohi, Hannes; Mauldin, Elizabeth A; ... (2020). A Missense Variant Affecting the C-Terminal Tail of UNC93B1 in Dogs with Exfoliative Cutaneous Lupus Erythematosus (ECLE). Genes, 11(2) MDPI 10.3390/genes11020159
Störk, Theresa; Nessler, Jasmin; Anderegg, Linda; Hünerfauth, Enrice; Schmutz, Isabelle; Jagannathan, Vidya; Kyöstilä, Kaisa; Lohi, Hannes; Baumgärtner, Wolfgang; Tipold, Andrea; Leeb, Tosso (2019). TSEN54 missense variant in Standard Schnauzers with leukodystrophy. PLoS genetics, 15(10), e1008411. Public Library of Science 10.1371/journal.pgen.1008411
Anderegg, Linda; Im Hof Gut, Michelle; Hetzel, Udo; Howerth, Elizabeth W; Leuthard, Fabienne Nadja; Kyöstilä, Kaisa; Lohi, Hannes; Pettitt, Louise; Mellersh, Cathryn; Minor, Katie M; Mickelson, James R; Batcher, Kevin; Bannasch, Danika; Jagannathan, Vidya; Leeb, Tosso (2019). NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia. PLoS genetics, 15(9), e1008378. Public Library of Science 10.1371/journal.pgen.1008378
Hitti, Rebekkah J; Oliver, James A C; Schofield, Ellen C; Bauer, Anina; Kaukonen, Maria; Forman, Oliver P; Leeb, Tosso; Lohi, Hannes; Burmeister, Louise M; Sargan, David; Mellersh, Cathryn S (2019). Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration. Genes, 10(5) MDPI 10.3390/genes10050385
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
Syrjä, Pernilla; Anwar, Tahira; Jokinen, Tarja; Kyöstilä, Kaisa; Jäderlund, Karin Hultin; Cozzi, Francesca; Rohdin, Cecilia; Hahn, Kerstin; Wohlsein, Peter; Baumgärtner, Wolfgang; Henke, Diana; Oevermann, Anna; Sukura, Antti; Leeb, Tosso; Lohi, Hannes; Eskelinen, Eeva-Liisa (2017). Basal Autophagy Is Altered in Lagotto Romagnolo Dogs with an ATG4D Mutation. Veterinary pathology, 54(6), pp. 953-963. American College of Veterinary Pathologists 10.1177/0300985817712793
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
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
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
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
Shirokova, Vera; Jussila, Maria; Hytönen, Marjo K.; Perälä, Nina; Drögemüller, Cord; Leeb, Tosso; Lohi, Hannes; Sainio, Kirsi; Thesleff, Irma; Mikkola, Marja L. (2013). Expression of Foxi3 is regulated by ectodysplasin in skin appendage placodes. Developmental dynamics, 242(6), pp. 593-603. John Wiley & Sons 10.1002/dvdy.23952
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
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
Petersen, Jessica L; Mickelson, James R; Cothran, E Gus; Andersson, Lisa S; Axelsson, Jeanette; Bailey, Ernie; Bannasch, Danika; Binns, Matthew M; Borges, Alexandre S; Brama, Pieter; da Câmara Machado, Artur; Distl, Ottmar; Felicetti, Michela; Fox-Clipsham, Laura; Graves, Kathryn T; Guérin, Gérard; Haase, Bianca; Hasegawa, Telhisa; Hemmann, Karin; Hill, Emmeline W; ... (2013). Genetic diversity in the modern horse illustrated from genome-wide SNP data. PLoS ONE, 8(1), e54997. Public Library of Science 10.1371/journal.pone.0054997
Petersen, Jessica L; Mickelson, James R; Rendahl, Aaron K; Valberg, Stephanie J; Andersson, Lisa S; Axelsson, Jeanette; Bailey, Ernie; Bannasch, Danika; Binns, Matthew M; Borges, Alexandre S; Brama, Pieter; da Câmara Machado, Artur; Capomaccio, Stefano; Cappelli, Katia; Cothran, E Gus; Distl, Ottmar; Fox-Clipsham, Laura; Graves, Kathryn T; Guérin, Gérard; Haase, Bianca; ... (2013). Genome-wide analysis reveals selection for important traits in domestic horse breeds. PLoS genetics, 9(1), e1003211. Public Library of Science 10.1371/journal.pgen.1003211
Bruun, Camilla S; Jäderlund, Karin H; Berendt, Mette; Jensen, Kristine B; Spodsberg, Eva H; Gredal, Hanne; Shelton, G Diane; Mickelson, James R; Minor, Katie M; Lohi, Hannes; Bjerkås, Inge; Stigen, Oyvind; Espenes, Arild; Rohdin, Cecilia; Edlund, Rebecca; Ohlsson, Jennie; Cizinauskas, Sigitas; Leifsson, Páll S; Drögemüller, Cord; Moe, Lars; ... (2013). A Gly98Val mutation in the N-Myc downstream regulated gene 1 (NDRG1) in Alaskan Malamutes with polyneuropathy. PLoS ONE, 8(2), e54547. Public Library of Science 10.1371/journal.pone.0054547
Drögemüller, Cord; Karlsson, Elinor K; Hytönen, Marjo K; Perloski, Michele; Dolf, Gaudenz; Sainio, Kirsi; Lohi, Hannes; Lindblad-Toh, Kerstin; Leeb, Tosso (2008). A mutation in hairless dogs implicates FOXI3 in ectodermal development. Science, 321(5895), p. 1462. American Association for the Advancement of Science 10.1126/science.1162525
