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

1. 

   TYRP1 and MC1R genotypes and their effects on coat color in dogs Mammalian

   First published description of the causal variant.
2. 

   Assessment of visual function and retinal structure following acute light exposure in the light sensitive T4R rhodopsin mutant dog.
3. 

   Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff dog breeds.

   First published description of the causal variant.
4. 

   A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum-Associated Protein Degradation (ERAD) Machinery.

   First published description of the causal variant.
5. 

   Transient Photoreceptor Deconstruction by CNTF Enhances rAAV-Mediated Cone Functional Rescue in Late Stage CNGB3-Achromatopsia
6. 

   Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia
7. 

   GM2 gangliosidosis (B variant) in two Japanese Chins: clinical, magnetic resonance imaging and pathological characteristics.

   Breed-specific research
8. 

   GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease.

   First published description of the causal variant
9. 

   Population screening for the mutation associated with osteogenesis imperfecta in dachshunds.
10. 

    A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta.

    First published description of the causal variant
11. 

    Development and validation of a diagnostic test for Ridge allele copy number in Rhodesian Ridgeback dogs.
12. 

    Efficient mapping of mendelian traits in dogs through genome-wide association
13. 

    Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs.

    First publication describing the causal variant.
14. 

    Degenerative myelopathy in a SOD1 compound heterozygous Bernese mountain dog.
15. 

    Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy.
16. 

    Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis.

    First published description of the causal variant
17. 

    SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system.
18. 

    Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs

    First published description of the causal variant.
19. 

    Neutrophil elastase-processing defect in cyclic hematopoietic dogs.

    First published description of the causal variant.
20. 

    Coat variation in the domestic dog is governed by variants in three genes.

    First published description of the causal variant.
21. 

    DNA-PKcs mutations in dogs and horses: allele frequency and association with neoplasia Gene.

    First published description of the causal variant.
22. 

    Linkage mapping of the primary disease locus for collie eye anomaly.

    Linkage reporting
23. 

    Genetic analysis of optic nerve head coloboma in the Nova Scotia Duck Tolling Retriever identifies discordance with the NHEJ1 intronic deletion (collie eye anomaly mutation).

    Breed-specific variant research
24. 

    Discrepancy in compliance between the clinical and genetic diagnosis of choroidal hypoplasia in Danish Rough Collies and Shetland Sheepdogs.

    Breed-specific variant research
25. 

    Breed relationships facilitate fine-mapping studies: a 7.8-kb deletion cosegregates with Collie eye anomaly

    Primary publication for identification of variant.