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

1. 

   Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders.
2. 

   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.
3. 

   The bald and the beautiful: hairlessness in domestic dog breeds.
4. 

   Allelic heterogeneity of FGF5 mutations causes the long-hair phenotype in dogs.
5. 

   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.
6. 

   Canine models of inherited bleeding disorders in the development of coagulation assays, novel protein replacement and gene therapies.
7. 

   Effect of recombinant factor VIIa on the hemostatic defect in dogs with hemophilia A, hemophilia B, and von Willebrand disease.
8. 

   Canine Hemophilia-B Resulting from a Point Mutation with Unusual Consequences

   First published description of the causal variant.
9. 

   Molecular basis of canine muscle type phosphofructokinase deficiency
10. 

    Hemolysis, myopathy, and cardiac disease associated with hereditary phosphofructokinase deficiency in two Whippets.
11. 

    Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog.

    First published description of the causal variant.
12. 

    Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia.

    First published description of the causal variant.
13. 

    A Novel Missense Mutation in ADAMTS10 in Norwegian Elkhound Primary Glaucoma
14. 

    Mapping of the disease locus and identification of ADAMTS10 as a candidate gene in a canine model of primary open angle glaucoma.

    First published description of the causal variant.
15. 

    Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis.
16. 

    A duplication in the canine beta-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan huskies.

    Breed-specific reference: Alaskan huskies
17. 

    GM1 gangliosidosis in shiba dogs

    First published description of the causal variant.
18. 

    Inadvertent propagation of factor VII deficiency in a canine mucopolysaccharidosis type I research breeding colony.
19. 

    A novel missense mutation responsible for factor VII deficiency in research Beagle colonies.

    First published description of the causal variant.
20. 

    Exercise-induced collapse of Labrador retrievers: survey results and preliminary investigation of heritability.
21. 

    A canine DNM1 mutation is highly associated with the syndrome of exercise-induced collapse.

    First published description of the causal variant.
22. 

    Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs.

    Breed/type-specific reference: Central Asian Shepherd dogs
23. 

    Inherited dystrophic epidermolysis bullosa in inbred dogs: A spontaneous animal model for somatic gene therapy Journal of Investigative Dermatology

    Dystrophic epidermolysis bullosa
24. 

    Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors.

    First published description of the causal variant.
25. 

    Presumed hereditary elliptocytosis in a dog.

    First published description of the causal variant.