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First published description of the causal variant. Baranowska, I., Jäderlund, K.H., Nennesmo, I., Holmqvist, E., Heidrich, N., Larsson, N.G., Andersson, G., Wagner, E.G., Hedhammar, A., Wibom, R., Andersson, L. : Sensory ataxic neuropathy in golden retriever dogs is caused by a deletion in the mitochondrial tRNATyr gene. PLoS Genet 5:e1000499, 2009. Pubmed reference: 19492087. DOI: 10.1371/journal.pgen.1000499.

First published description of the causal variant. Bannasch, D., Safra, N., Young, A., Karmi, N., Schaible, RS., Ling, GV. : Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dog. PLoS Genet 4:e1000246, 2008. Pubmed reference: 18989453. DOI: 10.1371/journal.pgen.1000246.

First published description of the causal variant. Bader, HL., Ruhe, AL., Wang, LW., Wong, AK., Walsh, KF., Packer, RA., Mitelman, J., Robertson, KR., O'Brien, DP., Broman, KW., Shelton, GD., Apte, SS., Neff, MW. :An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures. PLoS One 5:, 2010. Pubmed reference: 20862248. DOI: 10.1371/journal.pone.0012817.

First published description of the causal variant. Three diverse mutations underlying canine xanthine urolithiasis. E. Furrow, N. Tate, K. Minor, J. Mickelson, K. Peterson, and J. Lulich. ACVIM Research Report, 2016.

First published description of the causal variant. Hytönen, M.K., Arumilli, M., Lappalainen, A.K., Owczarek-Lipska, M., Jagannathan, V., Hundi, S., Salmela, E., Venta, P., Sarkiala, E., Jokinen, T., Gorgas, D., Kere, J., Nieminen, P., Drögemüller, C., Lohi, H. : Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PLoS Genet 12:e1006037, 2016. Pubmed reference: 27187611. DOI: 10.1371/journal.pgen.1006037.

First published description of the causal variants. Ref: Vet Immunol Immunopathol. 2013 Jun 15;153(3-4):279-88. doi: 10.1016/j.vetimm.2013.03.012. Epub 2013 Mar 30. "Abstract Lymphoma is one of the most common forms of cancer in dogs as it is in humans but, unlike humans, the cure rates in canines are still very low. Despite the fact that high grade B-cell lymphomas are considered to be chemotherapy responsive, almost all treated dogs ultimately relapse and die due to the residual malignant lymphocytes, namely minimal residual disease (MRD). It would be extremely valuable for clinicians to detect, monitor and quantify MRD for risk group stratification, effective treatment intervention and outcome prediction. The PCRs targeting the Ig gene rearrangements constitute one of the most reliable tools to this end. We have recently validated a method which exploits hairpin-shaped primers for quantifying MRD. In the present study, that method is conveniently used for retrospectively monitoring MRD in the peripheral blood of 8 dogs diagnosed with B-cell lymphoma who underwent chemotherapy. All dogs attained complete remission. The median disease-free interval was 254.5 days (range 63-774) while the median survival time was 313.5 days (range 143-817 days). At admission, all dogs, except one which had already been treated with prednisone, had circulating neoplastic cells. All dogs attained complete remission (CR) which was almost always matched with a complete MRD response. The persistence of MRD despite apparent CR indicated a worse prognosis and a short duration of CR. Finally, the relapse is consistently anticipated by the reappearance of MRD in the peripheral blood. The study confirmed the suitability of an MRD monitoring assay as a clinical decision-making tool. Copyright © 2013 Elsevier B.V. All rights reserved."

Hédan et al. (2020). Advances in the knowledge of the genetic bases of histiocytic sarcoma and the development of the genetic risk test SH and the online tool HSIMS.

Genetic test specific information from GTP Antagene. Publication : Hédan et al. (2020). Advances in the knowledge of the genetic bases of histiocytic sarcoma and the development of the genetic risk test SH and the online tool HSIMS.

First published description of the causal variant. Awano, T., Katz, ML., O'Brien, DP., Taylor, JF., Evans, J., Khan, S., Sohar, I., Lobel, P., Johnson, GS. : A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis. Mol Genet Metab 87:341-8, 2006. Pubmed reference: 16386934. DOI: 10.1016/j.ymgme.2005.11.005.

First published description of the causal variant. Awano, T., Katz, ML., O'Brien, DP., Sohar, I., Lobel, P., Coates, JR., Khan, S., Johnson, GC., Giger, U., Johnson, GS. : A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis. Mol Genet Metab 89:254-60, 2006. Pubmed reference: 16621647. DOI: 10.1016/j.ymgme.2006.02.016.

First published description of the causal variant. Associations between gastric dilatation-volvulus in Great Danes and specific alleles of the canine immune-system genes DLA88, DRB1, and TLR5, Michael A. Harkey, Alexandra M. Villagran, Gopalakrishnan M. Venkataraman, Wendy M. Leisenring, Meredith A. J. Hullar, and Beverly J. Torok-Storb, American Journal of Veterinary Research, August 2017, Vol. 78, No. 8 , Pages 934-945, (https://doi.org/10.2460/ajvr.78.8.934)

First published description of the causal variant. Aronovich EL, Carmichael KP, Morizono H, Koutlas IG, Deanching M, Hoganson G, Fischer A, Whitley CB: Canine heparan sulfate sulfamidase and the molecular pathology underlying Sanfilippo syndrome type A in Dachshunds. Genomics 68:80-84, 2000

First published description of the causal variant. Ainsworth, S., Carter, S., Fisher, C., Dawson, J., Makrides, L., Nuttall, T., Mason, S.L. : Ligneous membranitis in Scottish Terriers is associated with a single nucleotide polymorphism in the plasminogen (PLG) gene. Anim Genet 46:707-10, 2015. Pubmed reference: 26360520. DOI: 10.1111/age.12339.

Aguirre, G.D., Baldwin, V., Pearce-Kelling, S., Narfström, K., Ray, K., Acland, G.M. : Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect. Mol Vis 4:23, 1998. Pubmed reference: 9808841.

First published description of the causal variant. Agler, C., Nielsen, D.M., Urkasemsin, G., Singleton, A., Tonomura, N., Sigurdsson, S., Tang, R., Linder, K., Arepalli, S., Hernandez, D., Lindblad-Toh, K., van de Leemput, J., Motsinger-Reif, A., O'Brien, D.P., Bell, J., Harris, T., Steinberg, S., Olby, N.J. : Canine Hereditary Ataxia in Old English Sheepdogs and Gordon Setters Is Associated with a Defect in the Autophagy Gene Encoding RAB24. PLoS Genet 10:e1003991, 2014. Pubmed reference: 24516392. DOI: 10.1371/journal.pgen.1003991.

First published description of the causal variant. Abitbol, M., Thibaud, J.L., Olby, N.J., Hitte, C., Puech, J.P., Maurer, M., Pilot-Storck, F., Hedan, B., Dreano, S., Brahimi, S., Delattre, D., Andre, C., Gray, F., Delisle, F., Caillaud, C., Bernex, F., Panthier, J.J., Aubin-Houzelstein, G., Blot, S., Tiret, L. : A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis. Proc Natl Acad Sci U S A 107:14775-80, 2010. Pubmed reference: 20679209. DOI: 10.1073/pnas.0914206107.

First published description of the causal variant. A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs; Becker D, Minor KM, Letko A, et al. (2017); BMC Genomics (2017) 18:662. doi: 10.1186/s12864-017-4081-z

First published description of the causal variant. 2022 Christen, M., Bongers, J., Mathis, D., Jagannathan, V., Quintana, R.G., Leeb, T. :ACADM frameshift variant in Cavalier King Charles Spaniels with medium-chain acyl-CoA dehydrogenase deficiency. Genes (Basel) 13:1847, 2022. Pubmed reference: 36292732. DOI: 10.3390/genes13101847.

First published description of the causal variant. 2020 Winkler, P.A., Ramsey, H.D., Petersen-Jones, S.M. : A novel mutation in PDE6B in Spanish Water Dogs with early-onset progressive retinal atrophy. Vet Ophthalmol :, 2020. Pubmed reference: 32639685. DOI: 10.1111/vop.12792.

First published description of the causal variant. 2020 Vernau, K.M., Struys, E., Letko, A., Woolard, K.D., Aguilar, M., Brown, E.A., Cissell, D.D., Dickinson, P.J., Shelton, G.D., Broome, M.R., Gibson, K.M., Pearl, P.L., König, F., Van Winkle, T.J., O'Brien, D., Roos, B., Matiasek, K., Jagannathan, V., Drögemüller, C., Mansour, T.A., Brown, C.T., Bannasch, D.L. : A Missense Variant in <i>ALDH5A1</i> Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog. Genes (Basel) 11:, 2020. Pubmed reference: 32887425. DOI: 10.3390/genes11091033.

First published description of the causal variant. 2020 Gurtner, C., Hug, P., Kleiter, M., Köhler, K., Dietschi, E., Jagannathan, V., Leeb, T. : YARS2 Missense Variant in Belgian Shepherd Dogs with Cardiomyopathy and Juvenile Mortality. Genes (Basel) 11:, 2020. Pubmed reference: 32183361. DOI: 10.3390/genes11030313.

First published description of the causal variant. 2019 Yost, O., Friedenberg, S.G., Jesty, S.A., Olby, N.J., Meurs, K.M. : The R9H phospholamban mutation is associated with highly penetrant dilated cardiomyopathy and sudden death in a spontaneous canine model. Gene 697:118-122, 2019. Pubmed reference: 30794913. DOI: 10.1016/j.gene.2019.02.022.

First published description of the causal variant. 2019 Letko, A., Dietschi, E., Nieburg, M., Jagannathan, V., Gurtner, C., Oevermann, A., Drögemüller, C., Letko, A., Dietschi, E., Nieburg, M., Jagannathan, V., Gurtner, C., Oevermann, A., Drögemüller, C. : A Missense Variant in <i>SCN8A</i> in Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia. Genes (Basel) 10:, 2019. Pubmed reference: 31083464. DOI: 10.3390/genes10050362.

First published description of the causal variant. 2019 Hytönen, M.K., Arumilli, M., Sarkiala, E., Nieminen, P., Lohi, H. : Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. Hum Genet :, 2019. Pubmed reference: 30877375. DOI: 10.1007/s00439-019-01997-8.

First published description of the causal variant. 2019 Hédan et al., Hédan, B., Cadieu, E., Botherel, N., Dufaure de Citres, C., Letko, A., Rimbault, M., Drögemüller, C., Jagannathan, V., Derrien, T., Schmutz, S., Leeb, T., André, C. : Identification of a Missense Variant in <i>MFSD12</i> Involved in Dilution of Phaeomelanin Leading to White or Cream Coat Color in Dogs. Genes (Basel) 10:386, 2019. Pubmed reference: 31117290. DOI: 10.3390/genes10050386.