A Missense Variant in SCN8A in Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia

по Letko, Anna, Dietschi, Elisabeth, Nieburg, Marco, Jagannathan, Vidhya, Gurtner, Corinne, Oevermann, Anna, Drögemüller, Cord
Опубликовано в: Genes (Basel) (2019)

A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle

по Jacinto, Joana Gonçalves Pontes, Häfliger, Irene Monika, Letko, Anna, Drögemüller, Cord, Agerholm, Jørgen Steen
Опубликовано в: Acta Vet Scand (2020)

Compound heterozygous PLA2G6 loss-of-function variants in Swaledale sheep with neuroaxonal dystrophy

по Letko, Anna, Strugnell, Ben, Häfliger, Irene M., Paris, Julia M., Waine, Katie, Drögemüller, Cord, Scholes, Sandra
Опубликовано в: Mol Genet Genomics (2020)

Phenotypic and Genomic Analysis of Cystic Hygroma in Pigs

по Letko, Anna, Schauer, Alexandria Marie, Derks, Martijn F. L., Grau-Roma, Llorenç, Drögemüller, Cord, Grahofer, Alexander
Опубликовано в: Genes (Basel) (2021)

Genomic diversity and population structure of the Leonberger dog breed

по Letko, Anna, Minor, Katie M., Jagannathan, Vidhya, Seefried, Franz R., Mickelson, James R., Oliehoek, Pieter, Drögemüller, Cord
Опубликовано в: Genet Sel Evol (2020)

Correction to: Genomic diversity and population structure of the Leonberger dog breed

по Letko, Anna, Minor, Katie M., Jagannathan, Vidhya, Seefried, Franz R., Mickelson, James R., Oliehoek, Pieter, Drögemüller, Cord
Опубликовано в: Genet Sel Evol (2020)

Chromosomal imbalance in pigs showing a syndromic form of cleft palate

по Grahofer, Alexander, Letko, Anna, Häfliger, Irene Monika, Jagannathan, Vidhya, Ducos, Alain, Richard, Olivia, Peter, Vanessa, Nathues, Heiko, Drögemüller, Cord
Опубликовано в: BMC Genomics (2019)

Multiple FGF4 Retrocopies Recently Derived within Canids

по Batcher, Kevin, Dickinson, Peter, Maciejczyk, Kimberly, Brzeski, Kristin, Rasouliha, Sheida Hadji, Letko, Anna, Drögemüller, Cord, Leeb, Tosso, Bannasch, Danika
Опубликовано в: Genes (Basel) (2020)

X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene

по Brunetti, Barbara, Muscatello, Luisa V., Letko, Anna, Papa, Valentina, Cenacchi, Giovanna, Grillini, Marco, Murgiano, Leonardo, Jagannathan, Vidhya, Drögemüller, Cord
Опубликовано в: Genes (Basel) (2020)

A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers–Danlos Syndrome

по Jacinto, Joana G. P., Häfliger, Irene M., Veiga, Inês M. B., Letko, Anna, Benazzi, Cinzia, Bolcato, Marilena, Drögemüller, Cord
Опубликовано в: Animals (Basel) (2020)

A de novo variant in OTX2 in a lamb with otocephaly

по Paris, Julia Maria, Letko, Anna, Häfliger, Irene Monika, Švara, Tanja, Gombač, Mitja, Klinc, Primož, Škibin, Andrej, Pogorevc, Estera, Drögemüller, Cord
Опубликовано в: Acta Vet Scand (2020)

Whole Genome Sequencing Indicates Heterogeneity of Hyperostotic Disorders in Dogs

по Letko, Anna, Leuthard, Fabienne, Jagannathan, Vidhya, Corlazzoli, Daniele, Matiasek, Kaspar, Schweizer, Daniela, Hytönen, Marjo K., Lohi, Hannes, Leeb, Tosso, Drögemüller, Cord
Опубликовано в: Genes (Basel) (2020)

A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs

по Becker, Doreen, Minor, Katie M., Letko, Anna, Ekenstedt, Kari J., Jagannathan, Vidhya, Leeb, Tosso, Shelton, G. Diane, Mickelson, James R., Drögemüller, Cord
Опубликовано в: BMC Genomics (2017)

Deleterious AGXT Missense Variant Associated with Type 1 Primary Hyperoxaluria (PH1) in Zwartbles Sheep

по Letko, Anna, Dijkman, Reinie, Strugnell, Ben, Häfliger, Irene M., Paris, Julia M., Henderson, Katrina, Geraghty, Tim, Orr, Hannah, Scholes, Sandra, Drögemüller, Cord
Опубликовано в: Genes (Basel) (2020)

Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to White or Cream Coat Color in Dogs

по Hédan, Benoit, Cadieu, Edouard, Botherel, Nadine, Dufaure de Citres, Caroline, Letko, Anna, Rimbault, Maud, Drögemüller, Cord, Jagannathan, Vidhya, Derrien, Thomas, Schmutz, Sheila, Leeb, Tosso, André, Catherine
Опубликовано в: Genes (Basel) (2019)

A Missense Mutation in the Vacuolar Protein Sorting 11 (VPS11) Gene Is Associated with Neuroaxonal Dystrophy in Rottweiler Dogs

по 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.
Опубликовано в: G3 (Bethesda) (2018)

SLC19A3 Loss-of-Function Variant in Yorkshire Terriers With Leigh-Like Subacute Necrotizing Encephalopathy

по 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
Опубликовано в: Genes (Basel) (2020)

A CNTNAP1 Missense Variant Is Associated with Canine Laryngeal Paralysis and Polyneuropathy

по 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, Vidhya, Mickelson, James R., Drögemüller, Cord
Опубликовано в: Genes (Basel) (2020)

A Missense Variant Affecting the C-Terminal Tail of UNC93B1 in Dogs with Exfoliative Cutaneous Lupus Erythematosus (ECLE)

по Leeb, Tosso, Leuthard, Fabienne, Jagannathan, Vidhya, 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., Casal, Margret L.
Опубликовано в: Genes (Basel) (2020)

A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog

по 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, Vidhya, Drögemüller, Cord, Mansour, Tamer A., Brown, C. Titus, Bannasch, Danika L.
Опубликовано в: Genes (Basel) (2020)