2023 | 2021 | 2020 | 2019


  • Stanbury K, Stavinohova R, Pettitt L, Dixon C, Schofield EC, Mclaughlin B, Pettinen I, Lohi H, Ricketts SL, Oliver JA, Mellersh CS. Multiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene COL11A1. PLoS One. 2023 Dec 28;18(12):e0295851. doi: 10.1371/journal.pone.0295851. PMID: 38153936; PMCID: PMC10754463.
  • Christen M, Gutierrez-Quintana R, James M, Faller KME, Lowrie M, Rusbridge C, Bossens K, Mellersh C, Pettitt L, Heinonen T, Lohi H, Jagannathan V, Leeb T. A TNR Frameshift Variant in Weimaraner Dogs with an Exercise-Induced Paroxysmal Movement Disorder. Mov Disord. 2023 Jun;38(6):1094-1099. doi: 10.1002/mds.29391. Epub 2023 Apr 6. PMID: 37023257.


  • Tzouganakis I, Tsvetanova A, Jeanes EC, Mellersh CS, Gould DJ. Investigation of the allele frequency of the G>A intron 10 ADAMTS17 mutation causing primary lens luxation in the Portuguese Podengo breed. Vet Ophthalmol. 2022 Jan;25(1):85-89. doi: 10.1111/vop.12960. Epub 2021 Dec 6. PMID: 34870369.
  • Hitti-Malin RJ, Burmeister LM, Lingaas F, Kaukonen M, Pettinen I, Lohi H, Sargan D, Mellersh CS. A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog. Genes (Basel). 2021 Nov 8;12(11):1771. doi: 10.3390/genes12111771. PMID: 34828377; PMCID: PMC8624581.
  • Gutierrez-Quintana R, Mellersh C, Wessmann A, Ortega M, Penderis J, Sharpe S, Freeman E, Stevenson L, Burmeister L. Hereditary sensory and autonomic neuropathy in a family of mixed breed dogs associated with a novel RETREG1 variant. J Vet Intern Med. 2021 Sep;35(5):2306-2314. doi: 10.1111/jvim.16242. Epub 2021 Aug 13. PMID: 34387380; PMCID: PMC8478055
  • Jenkins CA; Dog Biomedical Variant Database Consortium; Schofield EC, Mellersh CS, De Risio L, Ricketts SL. Improving the resolution of canine genome- wide association studies using genotype imputation: A study of two breeds. Anim Genet. 2021 Oct;52(5):703-713. doi: 10.1111/age.13117. Epub 2021 Jul 12. PMID: 34252218; PMCID: PMC8514152.
  • Joyce H, Burmeister LM, Wright H, Fleming L, Oliver JAC, Mellersh C. Identification of a variant in NDP associated with X-linked retinal dysplasia in the English cocker spaniel dog. PLoS One. 2021 May 4;16(5):e0251071. doi: 10.1371/journal.pone.0251071. PMID: 33945575.


  • Mäkeläinen S, Hellsand M, van der Heiden AD, Andersson E, Thorsson E, S Holst B, Häggström J, Ljungvall I, Mellersh C, Hallböök F, Andersson G, Ekesten B, Bergström TF. Deletion in the Bardet-Biedl Syndrome Gene TTC8 Results in a Syndromic Retinal Degeneration in Dogs. Genes (Basel). 2020 Sep 18;11(9):1090. doi: 10.3390/genes11091090. PMID: 32962042; PMCID: PMC7565673.
  • Hitti-Malin RJ, Burmeister LM, Ricketts SL, Lewis TW, Pettitt L, Boursnell M, Schofield EC, Sargan D, Mellersh CS. A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs. BMC Genet. 2020 Sep 7;21(1):100. doi: 10.1186/s12863-020-00911-w. PMID: 32894063; PMCID: PMC7487703.
  • Hayward JJ, Kelly-Smith M, Boyko AR, Burmeister L, De Risio L, Mellersh C, Freeman J, Strain GM. A genome-wide association study of deafness in three canine breeds. PLoS One. 2020 May 15;15(5):e0232900. doi: 10.1371/journal.pone.0232900. PMID: 32413090; PMCID: PMC7228063.
  • Jenkins CA, Kalmar L, Matiasek K, Mari L, Kyöstilä K, Lohi H, Schofield EC, Mellersh CS, De Risio L, Ricketts SL. Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs. PLoS Genet. 2020 Jan 30;16(1):e1008527. doi: 10.1371/journal.pgen.1008527. PMID: 31999692; PMCID: PMC7012447.
  • Oliver JAC, Wright H, Massidda PA, Burmeister LM, Mellersh CS. A variant in OLFML3 is associated with pectinate ligament abnormality and primary closed-angle glaucoma in Border Collies from the United Kingdom. Vet Ophthalmol. 2020 Jan;23(1):25-36. doi: 10.1111/vop.12680. Epub 2019 May 29. PMID: 31141290.


  • Granger N, Luján Feliu-Pascual A, Spicer C, Ricketts S, Hitti R, Forman O, Hersheson J, Houlden H. Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model. PeerJ. 2019 Nov 21;7:e7983. doi: 10.7717/peerj.7983. PMID: 31772832; PMCID: PMC6875392.
  • Lowrie M, Foster D, Jenkins C, McLaughlin B, Ricketts S. Genetic study of border terriers. Vet Rec. 2019 Oct 5;185(13):411. doi: 10.1136/vr.l5798. PMID: 31582496.
  • Jagannathan V, Drögemüller C, Leeb T; Dog Biomedical Variant Database Consortium (DBVDC). A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves. Anim Genet. 2019 Dec;50(6):695-704. doi: 10.1111/age.12834. Epub 2019 Sep 5. PMID: 31486122; PMCID: PMC6842318.
  • Anderegg L, Im Hof Gut M, Hetzel U, Howerth EW, Leuthard F, Kyöstilä K, Lohi H, Pettitt L, Mellersh C, Minor KM, Mickelson JR, Batcher K, Bannasch D, Jagannathan V, Leeb T. NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia. PLoS Genet. 2019 Sep 3;15(9):e1008378. doi: 10.1371/journal.pgen.1008378. PMID: 31479451; PMCID: PMC6743793.
  • Wright HE, Schofield E, Mellersh CS, Burmeister LM. A novel TYRP1 variant is associated with liver and tan coat colour in Lancashire Heelers. Anim Genet. 2019 Dec;50(6):783. doi: 10.1111/age.12839. Epub 2019 Aug 29. PMID: 31468558.
  • Stavinohova R, Hartley C, Burmeister LM, Ricketts SL, Pettitt L, Tetas Pont R, Hitti RJ, Schofield E, Oliver JAC, Mellersh CS. Clinical, histopathological and genetic characterisation of oculoskeletal dysplasia in the Northern Inuit Dog. PLoS One. 2019 Aug 15;14(8):e0220761. doi: 10.1371/journal.pone.0220761. PMID: 31415586; PMCID: PMC6695176.
  • Batcher K, Dickinson P, Giuffrida M, Sturges B, Vernau K, Knipe M, Rasouliha SH, Drögemüller C, Leeb T, Maciejczyk K, Jenkins CA, Mellersh C, Bannasch D. Phenotypic Effects of FGF4 Retrogenes on Intervertebral Disc Disease in Dogs. Genes (Basel). 2019 Jun 7;10(6):435. doi: 10.3390/genes10060435. PMID: 31181696; PMCID: PMC6627552.
  • Oliver JAC, Wright H, Massidda PA, Burmeister LM, Mellersh CS. A variant in OLFML3 is associated with pectinate ligament abnormality and primary closed- angle glaucoma in Border Collies from the United Kingdom. Vet Ophthalmol. 2020 Jan;23(1):25-36. doi: 10.1111/vop.12680. Epub 2019 May 29. PMID: 31141290.
  • Hitti RJ, Oliver JAC, Schofield EC, Bauer A, Kaukonen M, Forman OP, Leeb T, Lohi H, Burmeister LM, Sargan D, Mellersh CS. Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration. Genes (Basel). 2019 May 21;10(5):385. doi: 10.3390/genes10050385. PMID: 31117272; PMCID: PMC6562617.
  • Jeanes EC, Oliver JAC, Ricketts SL, Gould DJ, Mellersh CS. Glaucoma-causing ADAMTS17 mutations are also reproducibly associated with height in two domestic dog breeds: selection for short stature may have contributed to increased prevalence of glaucoma. Canine Genet Epidemiol. 2019 May 17;6:5. doi: 10.1186/s40575-019-0071-6. PMID: 31131111; PMCID: PMC6524303.
  • Ostrander EA, Wang GD, Larson G, vonHoldt BM, Davis BW, Jagannathan V, Hitte C, Wayne RK, Zhang YP; Dog10K Consortium. Dog10K: an international sequencing effort to advance studies of canine domestication, phenotypes and health. Natl Sci Rev. 2019 Jul;6(4):810-824. doi: 10.1093/nsr/nwz049. Epub 2019 Apr 10. PMID: 31598383; PMCID: PMC6776107.
  • Biasoli D, Compston-Garnett L, Ricketts SL, Birand Z, Courtay-Cahen C, Fineberg E, Arendt M, Boerkamp K, Melin M, Koltookian M, Murphy S, Rutteman G, Lindblad-Toh K, Starkey M. A synonymous germline variant in a gene encoding a cell adhesion molecule is associated with cutaneous mast cell tumour development in Labrador and Golden Retrievers. PLoS Genet. 2019 Mar 22;15(3):e1007967. doi: 10.1371/journal.pgen.1007967. PMID: 30901340; PMCID: PMC6447235.
  • Mäkeläinen S, Gòdia M, Hellsand M, Viluma A, Hahn D, Makdoumi K, Zeiss CJ, Mellersh C, Ricketts SL, Narfström K, Hallböök F, Ekesten B, Andersson G, Bergström TF. An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease. PLoS Genet. 2019 Mar 19;15(3):e1007873. doi: 10.1371/journal.pgen.1007873. PMID: 30889179; PMCID: PMC6424408.
  • Oliver JAC, Ricketts SL, Kuehn MH, Mellersh CS. Primary closed angle glaucoma in the Basset Hound: Genetic investigations using genome-wide association and RNA sequencing strategies. Mol Vis. 2019 Feb 8;25:93-105. PMID: 30820145; PMCID: PMC6377385.
  • Lewis TW, Mellersh CS. Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. PLoS One. 2019 Jan 16;14(1):e0209864. doi: 10.1371/journal.pone.0209864. PMID: 30650096; PMCID: PMC6334900.