Peer-reviewed papers identifying the original phene variant. Includes breed-specific references associated with genetic tests and variants.

1. 

   YARS2 Missense Variant in Belgian Shepherd Dogs with Cardiomyopathy and Juvenile Mortality.

   First published description of the causal variant.
2. 

   The R9H phospholamban mutation is associated with highly penetrant dilated cardiomyopathy and sudden death in a spontaneous canine model.

   First published description of the causal variant.
3. 

   A Missense Variant in <i>SCN8A</i> in Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia.

   First published description of the causal variant.
4. 

   Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants.

   First published description of the causal variant.
5. 

   Identification of a Missense Variant in <i>MFSD12</i> Involved in Dilution of Phaeomelanin Leading to White or Cream Coat Color in Dogs.

   First published description of the causal variant.
6. 

   NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia.

   First published description of the causal variant.
7. 

   ACADVLGene in German Hunting Terrier Dogs with Exercise Induced Metabolic Myopathy. G3 (Bethesda

   First published description of the causal variant.
8. 

   MKLN1 splicing defect in dogs with lethal acrodermatitis.

   First published description of the causal variant.
9. 

   Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 which contributes to Robinow-like syndrome in Bulldogs and related screw tail dog breeds.

   First published description of the causal variant.
10. 

    A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs.

    First published description of the causal variant.
11. 

    OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism.

    First published description of the causal variant.
12. 

    A de novo variant in the ASPRV1 gene in a dog with ichthyosis.

    First published description of the causal variant.
13. 

    A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder.

    First published description of the causal variant.
14. 

    Identification of a mutation that is associated with the saddle tan and black-and-tan phenotypes in Basset Hounds and Pembroke Welsh Corgis.

    First published description of the causal variant.
15. 

    PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.

    First published description of the causal variant.
16. 

    Transglutaminase 1-deficient recessive lamellar ichthyosis associated with a LINE-1 insertion in Jack Russell terrier dogs.

    First published description of the causal variant.
17. 

    Inheritance of hypoadrenocorticism in Bearded Collies

    First published description of the causal variant.
18. 

    Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human.

    First published description of the causal variant.
19. 

    Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders.
20. 

    cDNA cloning of mutant catalase in acatalasemic beagle dog: single nucleotide substitution leading to thermal-instability and enhanced proteolysis of mutant enzyme

    First published description of the causal variant.
21. 

    The bald and the beautiful: hairlessness in domestic dog breeds.
22. 

    Allelic heterogeneity of FGF5 mutations causes the long-hair phenotype in dogs.
23. 

    The long and the short of it: evidence that FGF5 is a major determinant of canine 'hair'-itability.

    First published description of the causal variant.
24. 

    Canine models of inherited bleeding disorders in the development of coagulation assays, novel protein replacement and gene therapies.
25. 

    Effect of recombinant factor VIIa on the hemostatic defect in dogs with hemophilia A, hemophilia B, and von Willebrand disease.