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Rudd Garces, Gabriela; Farke, Daniela; Schmidt, Martin J; Letko, Anna; Schirl, Katja; Abitbol, Marie; Leeb, Tosso; Lyons, Leslie A; Lühken, Gesine (2024). PAX3 haploinsufficiency in Maine Coon cats with dominant blue eyes and hearing loss resembling the human Waardenburg syndrome. G3 Genes Genomes Genetics, 14(9) Genetics Society of America 10.1093/g3journal/jkae131
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
Goncalves Pontes Jacinto, Joana; Letko, Anna; Häfliger, Irene Monika; Drögemüller, Cord; Agerholm, Jørgen Steen (2024). Congenital syndromic Chiari-like malformation (CSCM) in Holstein cattle: towards unravelling of possible genetic causes. Acta Veterinaria Scandinavica, 66(29) BioMed Central Ltd. 10.1186/s13028-024-00752-y
Rudd Garces, Gabriela; Letko, Anna; Häfliger, Irene M; Müller, Jana; Herden, Christiane; Nesseler, Anne; Wagner, Henrik; Schmidt, Martin J; Drögemüller, Cord; Lühken, Gesine (2024). MFSD2A frameshift variant in Kerry Hill sheep with microcephaly. Animal genetics, 55(1), pp. 152-157. Wiley 10.1111/age.13374
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
Letko, Anna; Brülisauer, Franz; Häfliger, Irene M; Corr, Eilidh; Scholes, Sandra; Drögemüller, Cord (2023). Loss-of-function variant in the ovine TMCO6 gene in north country Cheviot sheep with motor neuron disease. Genomics, 115(5), p. 110689. Elsevier 10.1016/j.ygeno.2023.110689
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
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
Scheemaeker, Stephanie; Inglebert, Marine; Daminet, Sylvie; Dettwiler, Martina; Letko, Anna; Drögemüller, Cord; Kessler, Martin; Ducatelle, Richard; Rottenberg, Sven; Campos, Miguel (2023). Organoids of patient-derived medullary thyroid carcinoma: the first milestone towards a new in vitro model in dogs. Veterinary and comparative oncology, 21(1), pp. 111-122. Wiley 10.1111/vco.12872
Inglebert, Marine; Dettwiler, Martina; Hahn, Kerstin; Letko, Anna; Drögemüller, Cord; Doench, John; Brown, Adam; Memari, Yasin; Davies, Helen R; Degasperi, Andrea; Nik-Zainal, Serena; Rottenberg, Sven (2022). A living biobank of canine mammary tumor organoids as a comparative model for human breast cancer. Scientific Reports, 12(1), p. 18051. Nature Publishing Group 10.1038/s41598-022-21706-2
Letko, Anna; Minor, Katie M.; Norton, Elaine M.; Marinescu, Voichita D.; Drögemüller, Michaela; Ivansson, Emma; Megquier, Kate; Noh, Hyun Ji; Starkey, Mike; Friedenberg, Steven G.; Lindblad-Toh, Kerstin; Mickelson, James R.; Drögemüller, Cord (2021). Genome-Wide Analyses for Osteosarcoma in Leonberger Dogs Reveal the CDKN2A/B Gene Locus as a Major Risk Locus. Genes, 12(12), p. 1964. MDPI 10.3390/genes12121964
Jacinto, Joana G P; Häfliger, Irene M.; Veiga, Inês M. B.; Letko, Anna; Gentile, Arcangelo; Drögemüller, Cord (2021). A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle. Molecular genetics and genomics : MGG, 296(6), pp. 1313-1322. Springer 10.1007/s00438-021-01824-8
Letko, Anna; Bützberger, Charis; Hirter, Nathalie; Paris, Julia M.; Abril, Carlos; Drögemüller, Cord (2021). Genetic evaluation of small ruminant lentivirus susceptibility in Valais blacknose sheep. Animal genetics, 52(5), pp. 781-782. Wiley 10.1111/age.13108
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
Letko, Anna; Strugnell, Ben; Häfliger, Irene M.; Paris, Julia M.; Waine, Katie; Drögemüller, Cord; Scholes, Sandra (2021). Compound heterozygous PLA2G6 loss-of-function variants in Swaledale sheep with neuroaxonal dystrophy. Molecular genetics and genomics : MGG, 296(1), pp. 235-242. Springer 10.1007/s00438-020-01742-1
Letko, Anna; Schauer, Alexandria Marie; Derks, Martijn F. L.; Grau-Roma, Llorenç; Drögemüller, Cord; Grahofer, Alexander (2021). Phenotypic and Genomic Analysis of Cystic Hygroma in Pigs. Genes, 12(2), p. 207. MDPI 10.3390/genes12020207
Letko, Anna; Minor, Katie M; Friedenberg, Steven G; Shelton, G Diane; Salvador, Jill Pesayco; Mandigers, Paul J J; Leegwater, Peter A J; Winkler, Paige A; Petersen-Jones, Simon M; Stanley, Bryden J; Ekenstedt, Kari J; Johnson, Gary S; Hansen, Liz; Jagannathan, Vidya; Mickelson, James R; Drögemüller, Cord (2020). A CNTNAP1 Missense Variant Is Associated with Canine Laryngeal Paralysis and Polyneuropathy. Genes, 11(12) MDPI 10.3390/genes11121426
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
Jacinto, Joana G P; Häfliger, Irene M.; Veiga, Inês M. B.; Letko, Anna; Benazzi, Cinzia; Bolcato, Marilena; Drögemüller, Cord (2020). A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers–Danlos Syndrome. Animals, 10(11), p. 2002. MDPI 10.3390/ani10112002
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
Letko, Anna; Minor, Katie M.; Jagannathan, Vidya; Seefried, Franz R.; Mickelson, James R.; Oliehoek, Pieter; Drögemüller, Cord (2020). Genomic diversity and population structure of the Leonberger dog breed. Genetics, selection, evolution, 52(1), p. 61. BioMed Central 10.1186/s12711-020-00581-3
Brunetti, Barbara; Muscatello, Luisa V; Letko, Anna; Papa, Valentina; Cenacchi, Giovanna; Grillini, Marco; Murgiano, Leonardo; Jagannathan, Vidya; Drögemüller, Cord (2020). X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene. Genes, 11(10) MDPI 10.3390/genes11101175
Letko, Anna; Dijkman, Reinie; Strugnell, Ben; Häfliger, Irene M.; Paris, Julia M.; Henderson, Katrina; Geraghty, Tim; Orr, Hannah; Scholes, Sandra; Drögemüller, Cord (2020). Deleterious AGXT Missense Variant Associated with Type 1 Primary Hyperoxaluria (PH1) in Zwartbles Sheep. Genes, 11(10) MDPI 10.3390/genes11101147
Pontes Jacinto, Joana Goncalves; Häfliger, Irene Monika; Letko, Anna; Drögemüller, Cord; Agerholm, Jørgen Steen (2020). A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle. Acta Veterinaria Scandinavica, 62(1), p. 49. BioMed Central Ltd. 10.1186/s13028-020-00548-w
Vernau, Karen M; Struys, Eduard; Letko, Anna; Woolard, Kevin D; Aguilar, Miriam; Brown, Emily A; Cissell, Derek D; Dickinson, Peter J; Shelton, G Diane; Broome, Michael R; Gibson, K Michael; Pearl, Phillip L; König, Florian; Van Winkle, Thomas J; O'Brien, Dennis; Roos, B; Matiasek, Kaspar; Jagannathan, Vidya; Drögemüller, Cord; Mansour, Tamer A; ... (2020). A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog. Genes, 11(9) MDPI 10.3390/genes11091033
Batcher, Kevin; Dickinson, Peter; Maciejczyk, Kimberly; Brzeski, Kristin; Hadji Rasouliha, Sheida; Letko, Anna; Drögemüller, Cord; Leeb, Tosso; Bannasch, Danika (2020). Multiple FGF4 Retrocopies Recently Derived within Canids. Genes, 11(8) MDPI 10.3390/genes11080839
Hirter, Nathalie; Letko, Anna; Häfliger, Irene Monika; Becker, Doreen; Greber, Deborah; Drögemüller, Cord (2020). A genome-wide significant association on chromosome 15 for congenital entropion in Swiss White Alpine sheep. Animal genetics, 51(2), pp. 278-283. Wiley 10.1111/age.12903
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
Paris, Julia Maria; Letko, Anna; Häfliger, Irene Monika; Švara, Tanja; Gombač, Mitja; Klinc, Primož; Škibin, Andrej; Pogorevc, Estera; Drögemüller, Cord (2020). A de novo variant in OTX2 in a lamb with otocephaly. Acta Veterinaria Scandinavica, 62(1) BioMed Central Ltd. 10.1186/s13028-020-0503-z
Letko, Anna; Zdora, Isabel; Hitzler, Valerie; Jagannathan, Vidya; Beineke, Andreas; Möhrke, Carola; Drögemüller, Cord (2019). A de novo in-frame duplication in the COL1A2 gene in a Lagotto Romagnolo dog with osteogenesis imperfecta. Animal genetics, 50(6), pp. 786-787. Blackwell 10.1111/age.12843
Paris, Julia Maria; Letko, Anna; Häfliger, Irene Monika; Ammann, P; Flury, C; Drögemüller, Cord (2019). Identification of two TYRP1 loss-of-function alleles in Valais Red sheep. Animal genetics, 50(6), pp. 778-782. Wiley 10.1111/age.12863
Küttel, Luzia Marlis; Letko, Anna; Häfliger, Irene Monika; Signer-Hasler, Heidi; Joller, Sara; Hirsbrunner, Gabriela; Mészáros, G; Sölkner, J; Flury, C; Leeb, Tosso; Drögemüller, C. (2019). A complex structural variant at the KIT locus in cattle with the Pinzgauer spotting pattern. Animal genetics, 50(5), pp. 423-429. Wiley 10.1111/age.12821
Hédan, Benoit; Cadieu, Edouard; Botherel, Nadine; Dufaure de Citres, Caroline; Letko, Anna; Rimbault, Maud; Drögemüller, Cord; Jagannathan, Vidya; Derrien, Thomas; Schmutz, Sheila; Leeb, Tosso; André, Catherine (2019). Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to White or Cream Coat Color in Dogs. Genes, 10(5) MDPI 10.3390/genes10050386
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
Grahofer, Alexander; Letko, Anna; Häfliger, Irene Monika; Jagannathan, Vidya; Ducos, Alain; Richard, Olivia; Peter, Vanessa Georgina; Nathues, Heiko; Drögemüller, Cord (2019). Chromosomal imbalance in pigs showing a syndromic form of cleft palate. BMC Genomics, 20(1), p. 349. BioMed Central 10.1186/s12864-019-5711-4
Dürig, Nicole; Letko, Anna; Lepori, Vincent; Hadji Rasouliha, Sheida; Loechel, R; Kehl, A; Hytönen, M K; Lohi, H; Mauri, Nico; Dietrich, Sara Joëlle; Wiedmer, Michaela; Drögemüller, Michaela; Jagannathan, Vidhya; Schmutz, S M; Leeb, Tosso (2018). Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies. Animal genetics, 49(4), pp. 284-290. Blackwell 10.1111/age.12660
Minor, K. M.; Letko, Anna; Becker, Doreen; Drögemüller, Michaela; Mandigers, P. J. J.; Bellekom, S. R.; Leegwater, P. A. J.; Stassen, Q. E. M.; Putschbach, K.; Fischer, A.; Flegel, T.; Matiasek, K.; Ekenstedt, K. J.; Furrow, E.; Patterson, E. E.; Platt, S. R.; Kelly, P. A.; Cassidy, J. P.; Shelton, G. D.; Lucot, K.; ... (2018). Canine NAPEPLD-associated models of human myelin disorders. Scientific Reports, 8(1), p. 5818. Nature Publishing Group 10.1038/s41598-018-23938-7
Lucot, Katherine L.; Dickinson, Peter J.; Finno, Carrie J.; Mansour, Tamer A.; Letko, Anna; Minor, Katherine M.; Mickelson, James R.; Drögemüller, Cord; Brown, C. Titus; Bannasch, Danika L. (2018). A Missense Mutation in the Vacuolar Protein Sorting 11 ( VPS11 ) Gene Is Associated with Neuroaxonal Dystrophy in Rottweiler Dogs. G3 Genes Genomes Genetics, 8(8), pp. 2773-2780. Genetics Society of America 10.1534/g3.118.200376
Letko, Anna; Drögemüller, Cord (2017). Two brown coat colour-associated TYRP1 variants (b(c) and b(d)) occur in Leonberger dogs. Animal genetics, 48(6), pp. 732-733. Blackwell 10.1111/age.12612
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
Inglebert, Marine; Dettwiler, Martina; Hahn, Kerstin; Letko, Anna; Drögemüller, Cord; Doench, John; Brown, Adam; Memari, Yasin; Davies, Helen; Degasperi, Andrea; Nik-Zainal, Serena; Rottenberg, Sven (2022). A living biobank of canine mammary tumor organoids as a comparative model for human breast cancer (bioRxiv). Cold Spring Harbor Laboratory 10.1101/2022.09.02.505845