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

1. 

   A Multi-Breed Genome-Wide Association Analysis for Canine Hypothyroidism Identifies a Shared Major Risk Locus on CFA12.
2. 

   CNS hypomyelination in Rat Terrier dogs with congenital goiter and a mutation in the thyroid peroxidase gene.

   First published description of the causal variant.
3. 

   Congenital hypothyroidism with goiter in toy fox terriers

   First published description of the causal variant.
4. 

   [Clinical, hematological, biochemical and endocrinological aspects of 32 dogs with hypothyroidism]

   First published description of the causal variant.
5. 

   Degenerative Encephalopathy in Nova Scotia Duck Tolling Retrievers Presenting with a Rapid Eye Movement Sleep Behavior Disorder.

   First published description of the causal variant.
6. 

   Sensory ataxic neuropathy in golden retriever dogs is caused by a deletion in the mitochondrial tRNATyr gene.

   First published description of the causal variant.
7. 

   Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dog.

   First published description of the causal variant.
8. 

   An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures.

   First published description of the causal variant.
9. 

   Three diverse mutations underlying canine xanthine urolithiasis.

   First published description of the causal variant.
10. 

    Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.

    First published description of the causal variant.
11. 

    Retrospective monitoring of minimal residual disease using hairpin-shaped clone specific primers in B-cell lymphoma affected dogs

    First published description of the causal variants.
12. 

    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.
13. 

    Antagene - Histiosarcoma reference "Commander"

    Genetic test specific information from GTP Antagene.
14. 

    A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis.

    First published description of the causal variant.
15. 

    A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis.

    First published description of the causal variant.
16. 

    Associations between gastric dilatation-volvulus in Great Danes and specific alleles of the canine immune-system genes DLA88, DRB1, and TLR5

    First published description of the causal variant.
17. 

    Canine heparan sulfate sulfamidase and the molecular pathology underlying Sanfilippo syndrome type A in Dachshunds.

    First published description of the causal variant.
18. 

    Ligneous membranitis in Scottish Terriers is associated with a single nucleotide polymorphism in the plasminogen (PLG) gene.

    First published description of the causal variant.
19. 

    Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect.
20. 

    Canine Hereditary Ataxia in Old English Sheepdogs and Gordon Setters Is Associated with a Defect in the Autophagy Gene Encoding RAB24.

    First published description of the causal variant.
21. 

    A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.

    First published description of the causal variant.
22. 

    A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs

    First published description of the causal variant.
23. 

    ACADM frameshift variant in Cavalier King Charles Spaniels with medium-chain acyl-CoA dehydrogenase deficiency.

    First published description of the causal variant.
24. 

    A novel mutation in PDE6B in Spanish Water Dogs with early-onset progressive retinal atrophy.

    First published description of the causal variant.
25. 

    A Missense Variant in <i>ALDH5A1</i> Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog.

    First published description of the causal variant.