© 2026 The Canine Genetics Centre

Publications

2026 | 2025 | 2024 | 2023 | 2022 | 2021 | 2020 | 2019 | 2018 | 2017 | 2016 | 2015 | 2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005

2026

  • Schofield E, Butler T, Gonçalves R, Pettitt L, Wyatt S, Jenkins CA, De Frias JM, McLaughlin B, Pilkington E, Orlandi R, Mellersh CS, Freeman P, Prunty H, Ricketts SL, Harris G. A novel hereditary encephalopathy in four related Labrador Retrievers associated with a missense variant in the ALDH5A1 gene. J Vet Intern Med. 2026 Jan 21;40(1):aalaf021. doi: 10.1093/jvimsj/aalaf021. PMID: 41742512.
  • Poacher J, Schofield E, Lopes B, Khan S, Mellersh C, Freeman P. Prevalence and lifestyle risk factors for intervertebral disk disease in English cocker spaniels. J Vet Intern Med. 2026 Jan 21;40(1):aalaf011. doi: 10.1093/jvimsj/aalaf011. PMID: 41742489.

2025

  • Wade CM, Burmeister LM, Skelly BJ, McLaughlin B, Pettitt L, Atwater DZ, Tallmadge RL, Lejeune M, Lindblad-Toh K, Mellersh CS. Autosomal dominant primary hyperparathyroidism in the Keeshond dog breed is strongly associated with a missense variant in sirtuin-6. Anim Genet. 2025 Dec;56(6):e70056. doi: 10.1111/age.70056. PMID: 41134522.
  • Ricketts SL, Ahonen S, Pettitt L, Freyer J, Ellis S, Jenkins CA, Kaukonen M, Boursnell M, Schofield E, Forman OP, Lohi H, Mellersh CS. Common variants in the CPT1A gene are associated with cataracts in Northern breeds of domestic dog. PLoS One. 2025 Apr 4;20(4):e0320878. doi: 10.1371/journal.pone.0320878. PMID: 40184359; PMCID: PMC11970653.
  • Jenkins CA, De Risio L, Lophatananon A, Lewis TW, Foster D, Johnson J, Lohi H, Mellersh CS, Ricketts SL. Genome-wide association study of idiopathic epilepsy in the Italian Spinone dog breed. PLoS One. 2025 Mar 5;20(3):e0315546. doi: 10.1371/journal.pone.0315546. PMID: 40043055; PMCID: PMC11882058.
  • Oliver JAC, Stanbury K, Schofield E, McLaughlin B, Mellersh CS. A TTPA deletion is associated with Retinopathy with Vitamin E Deficiency (RVED) in the English Cocker Spaniel Dog. G3 (Bethesda). 2025 Jan 28:jkaf016. doi: 10.1093/g3journal/jkaf016. Epub ahead of print. PMID: 39874248.
  • Jenkins CA, De Risio L, Lophatananon A, Lewis TW, Foster D, Johnson J, Lohi H, Mellersh CS, Ricketts SL. Genome-wide association study of idiopathic epilepsy in the Italian Spinone dog breed. PLoS One. 2025 Mar 5;20(3):e0315546. doi: 10.1371/journal.pone.0315546. PMID: 40043055; PMCID: PMC11882058.
  • Wallis NJ, McClellan A, Mörseburg A, Kentistou KA, Jamaluddin A, Dowsett GKC, Schofield E, Morros-Nuevo A, Saeed S, Lam BYH, Sumanasekera NT, Chan J, Kumar SS, Zhang RM, Wainwright JF, Dittmann M, Lakatos G, Rainbow K, Withers D, Bounds R, Ma M, German AJ, Ladlow J, Sargan D, Froguel P, Farooqi IS, Ong KK, Yeo GSH, Tadross JA, Perry JRB, Gorvin CM, Raffan E. Canine genome-wide association study identifies DENND1B as an obesity gene in dogs and humans. Science. 2025 Mar 6:eads2145. doi: 10.1126/science.ads2145. Epub ahead of print. PMID: 40048553.

2024

  • Jenkins CA, De Risio L, Dietschi E, Leeb T, Rytz U, Schawalder P, Schoenebeck JJ, Mellersh CS, Ricketts SL. A preliminary genome-wide association study of paroxysmal dyskinesia in the Norwich Terrier. Anim Genet. 2024 Oct 12. doi: 10.1111/age.13479. Epub ahead of print. PMID: 39394913.
  • Margetts AC, Mellersh C, Smith K. Ocular melanosis in the adult Cairn Terrier population within the United Kingdom. Vet Ophthalmol. 2024 Sep 4. doi: 10.1111/vop.13271. Epub ahead of print. PMID: 39229804.
  • Stanbury K, Schofield EC, McLaughlin B, Forman OP, Mellersh CS. Exonic Short Interspersed Nuclear Element Insertion in FAM161A Is Associated with Autosomal Recessive Progressive Retinal Atrophy in the English Shepherd. Genes (Basel). 2024 Jul 20;15(7):952. doi: 10.3390/genes15070952. PMID: 39062732.
  • Donner J, Mellersh C. Frequency of RPGRIP1 and MAP9 genetic modifiers of canine progressive retinal atrophy, in 132 breeds of dog. Anim Genet. 2024 Aug;55(4):687-691. doi: 10.1111/age.13443. Epub 2024 May 16. PMID: 38752391.

2023

  • 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.
  • Margetts AC, Mellersh C, Smith K. Ocular melanosis in the adult Cairn Terrier population within the United Kingdom. Vet Ophthalmol. 2024 Sep 4. doi: 10.1111/vop.13271. Epub ahead of print. PMID: 39229804.
  • 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.
  • Haywood S, Swinburne J, Schofield E, Constantino-Casas F, Watson P. Copper toxicosis in Bedlington terriers is associated with multiple independent genetic variants. Vet Rec. 2023 Aug-Feb 19;193(4):e2832. doi: 10.1002/vetr.2832. Epub 2023 Apr 10. PMID: 37038639.

2022

  • 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.

2021

  • 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.

2020

  • 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.

2019

  • 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.

2018

  • Amengual-Batle P, Rusbridge C, Jose-Lopez R, Golini L, Shelton GD, Mellersh CS, Gutierrez-Quintana R. Two mixed breed dogs with sensory neuropathy are homozygous for an inversion disrupting FAM134B previously identified in Border Collies. J Vet Intern Med. 2018;32(6):2082-7 doi: 10.1111/jvim.15312. PMID: 30307654; PMCID: PMC6272042
  • Nicholas FW, Mellersh C, Lewis T. Letter to the editor regarding an autosomal recessive mutation in SCL24A4 causing enamel hypoplasia in Samoyed and its relationship to breed-wide genetic diversity. Canine Genet Epidemiol. 2018;5:4 doi: 10.1186/s40575-018-0059-7. PMID: 29744112; PMCID: PMC5930769 interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
  • Safra N, Hayward LJ, Aguilar M, Sacks BN, Westropp JL, Mohr FC, Mellersh CS, Bannasch DL. Correction: DNA Sequence Variants in the Five Prime Untranslated Region of the Cyclooxygenase-2 Gene Are Commonly Found in Healthy Dogs and Gray Wolves. PLoS One. 2018;13(4):e0195924 doi: 10.1371/journal.pone.0195924. PMID: 29634753; PMCID: PMC5892905
  • Bauer A, Jagannathan V, Hogler S, Richter B, McEwan NA, Thomas A, Cadieu E, Andre C, Hytonen MK, Lohi H, Welle MM, Roosje P, Mellersh C, Casal ML, Leeb T. MKLN1 splicing defect in dogs with lethal acrodermatitis. PLoS Genet. 2018;14(3):e1007264 doi: 10.1371/journal.pgen.1007264. PMID: 29565995; PMCID: PMC5863938
  • Lowe R, Barton C, Jenkins CA, Ernst C, Forman O, Fernandez-Twinn DS, Bock C, Rossiter SJ, Faulkes CG, Ozanne SE, Walter L, Odom DT, Mellersh C, Rakyan VK. Ageing-associated DNA methylation dynamics are a molecular readout of lifespan variation among mammalian species. Genome Biol. 2018;19(1):22 doi: 10.1186/s13059-018-1397-1. PMID: 29452591; PMCID: PMC5815211
  • Oliver JAC, Rustidge S, Pettitt L, Jenkins CA, Farias FHG, Giuliano EA, Mellersh CS. Evaluation of ADAMTS17 in Chinese Shar-Pei with primary open-angle glaucoma, primary lens luxation, or both. Am J Vet Res. 2018;79(1):98-106 doi: 10.2460/ajvr.79.1.98. PMID: 29287154;

2017

  • Oliver JAC, Cottrell BC, Newton JR, Mellersh CS. Gonioscopy in the dog: inter-examiner variability and the search for a grading scheme. J Small Anim Pract. 2017;58(11):652-8 doi: 10.1111/jsap.12727. PMID: 28869290;
  • Everson R, Pettitt L, Forman OP, Dower-Tylee O, McLaughlin B, Ahonen S, Kaukonen M, Komaromy AM, Lohi H, Mellersh CS, Sansom J, Ricketts SL. An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs. PLoS One. 2017;12(8):e0183021 doi: 10.1371/journal.pone.0183021. PMID: 28813472;
  • Oliver JA, Ekiri AB, Mellersh CS. Pectinate ligament dysplasia in the Border Collie, Hungarian Vizsla and Golden Retriever. Vet Rec. 2017;180(11):279 doi: 10.1136/vr.104121. PMID: 27999154;
  • Oliver JA, Rustidge S, Pettitt L, Jenkins CA, Farias FHG, Elizabeth A. Giuliano D, Cathryn S. Mellersh B, PhD. Primary open angle glaucoma/primary lens luxation in the Shar Pei: a candidate gene study reveals a novel mutation in ADAMTS17. American Journal of Veterinary Research. 2017;79(1):98-106

2016

  • De Risio L, Forman OP, Mellersh CS, Freeman J. Paroxysmal Dyskinesia in Norwich Terrier Dogs. Mov Disord Clin Pract. 2016;3(6):573-9 doi: 10.1002/mdc3.12334. PMID: 30838250; PMCID: PMC6353418
  • Fenn J, Boursnell M, Hitti RJ, Jenkins CA, Terry RL, Priestnall SL, Kenny PJ, Mellersh CS, Forman OP. Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed. BMC Genet. 2016;17(1):123 doi: 10.1186/s12863-016-0433-y. PMID: 27566131; PMCID: 5002145
  • Forman OP, Hitti RJ, Pettitt L, Jenkins CA, O’Brien DP, Shelton GD, De Risio L, Quintana RG, Beltran E, Mellersh C. An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed. G3 (Bethesda). 2016;6(9):2687-92 doi: 10.1534/g3.116.027896. PMID: 27527794; PMCID: 5015927
  • Oliver JA, Ekiri A, Mellersh CS. Prevalence and progression of pectinate ligament dysplasia in the Welsh springer spaniel. J Small Anim Pract. 2016;57(8):416-21 doi: 10.1111/jsap.12497. PMID: 27251455;
  • Downs LM, Webster AR, Moore AT, Michaelides M, Ali RR, Hardcastle AJ, Mellersh CS. Investigation of SLA4A3 as a candidate gene for human retinal disease. J Negat Results Biomed. 2016;15:11 doi: 10.1186/s12952-016-0054-z. PMID: 27211793; PMCID: 4876561
  • Raffan E, Dennis RJ, O’Donovan CJ, Becker JM, Scott RA, Smith SP, Withers DJ, Wood CJ, Conci E, Clements DN, Summers KM, German AJ, Mellersh CS, Arendt ML, Iyemere VP, Withers E, Soder J, Wernersson S, Andersson G, Lindblad-Toh K, Yeo GS, O’Rahilly S. A Deletion in the Canine POMC Gene Is Associated with Weight and Appetite in Obesity-Prone Labrador Retriever Dogs. Cell Metab. 2016;23(5):893-900 doi: 10.1016/j.cmet.2016.04.012. PMID: 27157046; PMCID: 4873617
  • Forman OP, Hitti RJ, Boursnell M, Miyadera K, Sargan D, Mellersh C. Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration. Mamm Genome. 2016;27(5-6):237-45 doi: 10.1007/s00335-016-9627-x. PMID: 27017229;
  • Oliver JA, Ekiri A, Mellersh CS. Prevalence of pectinate ligament dysplasia and associations with age, sex and intraocular pressure in the Basset hound, Flatcoated retriever and Dandie Dinmont terrier. Canine Genet Epidemiol. 2016;3:1 doi: 10.1186/s40575-016-0033-1. PMID: 26973793; PMCID: 4788888
  • Mellersh CS. DNA testing man’s best friend: Roles and responsibilities. Vet J. 2016;207:10-2 doi: 10.1016/j.tvjl.2015.08.027. PMID: 26626095;
  • Tetas Pont R, Downs L, Pettitt L, Busse C, Mellersh CS. A Carbohydrate Sulfotransferase-6 (CHST6) gene mutation is associated with Macular Corneal Dystrophy in Labrador Retrievers. Vet Ophthalmol. 2016;19(6):488-92 doi: 10.1111/vop.12332. PMID: 26585178;

2015

  • Forman OP, Pettitt L, Komaromy AM, Bedford P, Mellersh C. A Novel Genome-Wide Association Study Approach Using Genotyping by Exome Sequencing Leads to the Identification of a Primary Open Angle Glaucoma Associated Inversion Disrupting ADAMTS17. PLoS One. 2015;10(12):e0143546 doi: 10.1371/journal.pone.0143546. PMID: 26683476; PMCID: 4684296
  • Tetas Pont R, Downs L, Pettitt L, Busse C, Mellersh CS. A Carbohydrate Sulfotransferase-6 (CHST6) gene mutation is associated with Macular Corneal Dystrophy in Labrador Retrievers. Vet Ophthalmol. 2015 doi: 10.1111/vop.12332. PMID: 26585178;
  • Oliver JA, Forman OP, Pettitt L, Mellersh CS. Two Independent Mutations in ADAMTS17 Are Associated with Primary Open Angle Glaucoma in the Basset Hound and Basset Fauve de Bretagne Breeds of Dog. PLoS One. 2015;10(10):e0140436 doi: 10.1371/journal.pone.0140436. PMID: 26474315; PMCID: 4608710
  • Safra N, Hayward LJ, Aguilar M, Sacks BN, Westropp JL, Mohr FC, Mellersh CS, Bannasch DL. DNA Sequence Variants in the Five Prime Untranslated Region of the Cyclooxygenase-2 Gene Are Commonly Found in Healthy Dogs and Gray Wolves. PLoS One. 2015;10(8):e0133127 doi: 10.1371/journal.pone.0133127. PMID: 26244515; PMCID: 4526539
  • Ricketts SL, Pettitt L, McLaughlin B, Jenkins CA, Mellersh CS. A novel locus on canine chromosome 13 is associated with cataract in the Australian Shepherd breed of domestic dog. Mamm Genome. 2015;26(5-6):257-63 doi: 10.1007/s00335-015-9562-2. PMID: 25894238;
  • Forman OP, De Risio L, Matiasek K, Platt S, Mellersh C. Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1. Mamm Genome. 2015;26(1-2):108-17 doi: 10.1007/s00335-014-9547-6. PMID: 25354648; PMCID: 4305091

2014

  • Mellersh C. Inherited neurologic disorders in the dog: the science behind the solutions. Vet Clin North Am Small Anim Pract. 2014;44(6):1223-34 doi: 10.1016/j.cvsm.2014.07.011. PMID: 25441631;
  • Forman OP, Mellersh CS. Investigating inherited diseases in dogs. Vet Rec. 2014;174(20):512 doi: 10.1136/vr.g3295. PMID: 24832891;
  • Downs LM, Mellersh CS. An Intronic SINE insertion in FAM161A that causes exon-skipping is associated with progressive retinal atrophy in Tibetan Spaniels and Tibetan Terriers. PLoS One. 2014;9(4):e93990 doi: 10.1371/journal.pone.0093990. PMID: 24705771; PMCID: 3976383
  • Downs LM, Hitti R, Pregnolato S, Mellersh CS. Genetic screening for PRA-associated mutations in multiple dog breeds shows that PRA is heterogeneous within and between breeds. Vet Ophthalmol. 2014;17(2):126-30 doi: 10.1111/vop.12122. PMID: 24255994;
  • Downs LM, Wallin-Håkansson B, Bergström T, Mellersh CS. A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever. Canine Genetics and Epidemiology. 2014;1(4)
  • Mellersh CS. The genetics of eye disorders in the dog. Canine Genetics and Epidemiology. 2014;1(3)

2013

  • Ahonen SJ, Pietila E, Mellersh CS, Tiira K, Hansen L, Johnson GS, Lohi H. Genome-wide association study identifies a novel canine glaucoma locus. PLoS One. 2013;8(8):e70903 doi: 10.1371/journal.pone.0070903. PMID: 23951034; PMCID: PMC3737263
  • Forman OP, De Risio L, Mellersh CS. Missense Mutation in CAPN1 Is Associated with Spinocerebellar Ataxia in the Parson Russell Terrier Dog Breed. PLoS ONE. 2013;8(5):e64627 PMID: 23741357; PMCID: 3669408
  • Mellersh C. DNA testing: diagnosing and preventing inherited disorders in dogs. Veterinary Record. 2013;172(10):264-5 PMID: 23475044;
  • Massey J, Boag A, Short AD, Scholey RA, Henthorn PS, Littman MP, Husebye E, Catchpole B, Pedersen N, Mellersh CS, Ollier WE, Kennedy LJ. MHC class II association study in eight breeds of dog with hypoadrenocorticism. Immunogenetics. 2013;64(4):291-7 doi: 10.1007/s00251-013-0680-2. PMID: 23358933;

2012

  • Miyadera K, Brierley I, Aguirre-Hernandez J, Mellersh CS, Sargan DR. Multiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy. PLoS ONE. 2012;7(12):e51598 PMID: 23251588; PMCID: 3520932
  • Forman OP, De Risio L, Stewart J, Mellersh CS, Beltran E. Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. BMC Genetics. 2012;13(1):55 PMID: 22781464; PMCID: 3413603
  • Downs LM, Bell JS, Freeman J, Hartley C, Hayward LJ, Mellersh CS. Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71. Animal Genetics. 2012;44(2):169-77 doi: 10.1111/j.1365-2052.2012.02379.x. PMID: 22686255;
  • Forman OP, Penderis J, Hartley C, Hayward LJ, Ricketts SL, Mellersh CS. Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inherited Disorders in a Domestic Dog Breed. PLoS Genetics. 2012;8(1):e1002462 PMID: 22253609; PMCID: 3257292
  • Hartley C, Donaldson D, Smith KC, Henley W, Lewis TW, Blott S, Mellersh C, Barnett KC. Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in 25 Cavalier King Charles spaniel dogs – part I: clinical signs, histopathology, and inheritance. Veterinary Ophthalmology. 2012:[Epub ahead of print] doi: 10.1111/j.1463-5224.2011.00986.x. PMID: 22212237;
  • Miyadera K, Kato K, Boursnell M, Mellersh CS, Sargan DR. Genome-wide association study in RPGRIP1 (-/-) dogs identifies a modifier locus that determines the onset of retinal degeneration. Mammalian Genome. 2012;23(1-2):212-23 doi: 10.1007/s00335-011-9384-9. PMID: 22193413;
  • Mellersh C. DNA testing and domestic dogs. Mamm Genome. 2012;23(1-2):109-23 doi: 10.1007/s00335-011-9365-z. PMID: 22071879; PMCID: 3275738
  • Mellersh CS. Genetics of Eye Disorders in the Dog. In: E.A. O, Ruvinsky A, editors. The Genetics of the Dog: CABI; 2012. p. 218-40.

2011

  • Payen G, Hanninen RL, Mazzucchelli S, Forman OP, Mellersh CS, Savoldelli M, Chahory S. Primary lens instability in ten related cats: clinical and genetic considerations. Journal of Small Animal Practice. 2011;52(8):402-10 doi: 10.1111/j.1748-5827.2011.01081.x. PMID: 21797871;
  • Downs LM, Wallin-Hakansson B, Boursnell M, Marklund S, Hedhammar A, Truve K, Hubinette L, Lindblad-Toh K, Bergstrom T, Mellersh CS. A Frameshift Mutation in Golden Retriever Dogs with Progressive Retinal Atrophy Endorses SLC4A3 as a Candidate Gene for Human Retinal Degenerations. PLoS ONE. 2011;6(6):e21452 doi: 10.1371/journal.pone.0021452. PMID: 21738669; PMCID: 3124514
  • Busse C, Barnett KC, Mellersh CS, Adams VJ. Ophthalmic and cone derived electrodiagnostic findings in outbred Miniature Long-haired Dachshunds homozygous for a RPGRIP1 mutation. Veterinary Ophthalmology. 2011;14(3):146-52 doi: 10.1111/j.1463-5224.2010.00848.x. PMID: 21521437;
  • Mellersh C. DNA testing man’s best friend. Veterinary Record. 2011;168(1):10-2 doi: 10.1136/vr.c6658. PMID: 21257529;
  • Gould D, Pettitt L, McLaughlin B, Holmes N, Forman O, Thomas A, Ahonen S, Lohi H, O’Leary C, Sargan D, Mellersh C. ADAMTS17 mutation associated with primary lens luxation is widespread among breeds. Veterinary Ophthalmology. 2011;14:1-7
  • Mellersh C. DNA testing man’s best friend – what it is, why do it and what do the results mean? Veterinary Ireland Record. 2011;1(12):669-73
  • Mellersh C, D S. DNA testing in companion animals – what is it and why do it? In Practice. 2011;33 (9):442-53

2010

  • Karmi N, Brown EA, Hughes SS, McLaughlin B, Mellersh CS, Biourge V, Bannasch DL. Estimated frequency of the canine hyperuricosuria mutation in different dog breeds. Journal of Veterinary Internal Medicine. 2010;24(6):1337-42 doi: 10.1111/j.1939-1676.2010.0631.x. PMID: 21054540;
  • Short AD, Mellersh CS, Platt H, Carter SD, Timofte D, Lohi H, Ollier WE. Exonic mutations in the L2HGDH gene in Staffordshire bull terriers. Veterinary Record. 2010;167(12):455-7 doi: 10.1136/vr.c4476. PMID: 20852250;
  • Farias FH, Johnson GS, Taylor JF, Giuliano E, Katz ML, Sanders DN, Schnabel RD, McKay SD, Khan S, Gharahkhani P, O’Leary CA, Pettitt L, Forman OP, Boursnell M, McLaughlin B, Ahonen S, Lohi H, Hernandez-Merino E, Gould DJ, Sargan D, Mellersh CS. An ADAMTS17 Splice Donor Site Mutation in Dogs with Primary Lens Luxation. Investigative Ophthalmology and Visual Science. 2010;51:4716-21 doi: 10.1167/iovs.09-5142. PMID: 20375329;

2009

  • Miyadera K, Kato K, Aguirre-Hernandez J, Tokuriki T, Morimoto K, Busse C, Barnett K, Holmes N, Ogawa H, Sasaki N, Mellersh CS, Sargan DR. Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation. Mol Vis. 2009;15:2287-305 PMID: 19936303; PMCID: 2779058
  • Mellersh CS, McLaughlin B, Ahonen S, Pettitt L, Lohi H, Barnett KC. Mutation in HSF4 is associated with hereditary cataract in the Australian Shepherd. Veterinary Ophthalmology. 2009;12(6):372-8 doi: 10.1111/j.1463-5224.2009.00735.x. PMID: 19883468;
  • Lheriteau E, Libeau L, Stieger K, Deschamps JY, Mendes-Madeira A, Provost N, Lemoine F, Mellersh C, Ellinwood NM, Cherel Y, Moullier P, Rolling F. The RPGRIP1-deficient dog, a promising canine model for gene therapy. Mol Vis. 2009;15:349-61 PMID: 19223988; PMCID: 2642837

2008

2007

  • Mellersh CS, Graves KT, McLaughlin B, Ennis RB, Pettitt L, Vaudin M, Barnett KC. Mutation in HSF4 Associated with Early but Not Late-Onset Hereditary Cataract in the Boston Terrier. J Hered. 2007;98(5):531-3 PMID: 17611257;
  • Sargan DR, Withers D, Pettitt L, Squire M, Gould DJ, Mellersh CS. Mapping the mutation causing lens luxation in several terrier breeds. J Hered. 2007;98(5):534-8 PMID: 17573382;
  • Mosher DS, Quignon P, Bustamante CD, Sutter NB, Mellersh CS, Parker HG, Ostrander EA. A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygote dogs. PLoS Genet. 2007;3(5):e79 PMID: 17530926;
  • Penderis J, Calvin J, Abramson C, Jakobs C, Pettitt L, Binns MM, Verhoeven NM, O’Driscoll E, Platt SR, Mellersh CS. L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. Journal of Medical Genetics. 2007;44(5):334-40 PMID: 17475916;

2006

  • Mellersh CS, Pettitt L, Forman OP, Vaudin M, Barnett KC. Identification of mutations in HSF4 in dogs of three different breeds with hereditary cataracts. Veterinary Ophthalmology. 2006;9(5):369-78 PMID: 16939467;
  • Mellersh CS, Boursnell ME, Pettitt L, Ryder EJ, Holmes NG, Grafham D, Forman OP, Sampson J, Barnett KC, Blanton S, Binns MM, Vaudin M. Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. Genomics. 2006;88(3):293-301 PMID: 16806805;
  • Donaldson D, Sansom J, Scase T, Adams V, Mellersh C. Canine limbal melanoma: 30 cases (1992-2004). Part 1. Signalment, clinical and histological features and pedigree analysis. Vet Ophthalmol. 2006;9(2):115-9 PMID: 16497236;

2005

  • Starkey MP, Scase TJ, Mellersh CS, Murphy S. Dogs really are man’s best friend–canine genomics has applications in veterinary and human medicine! Brief Funct Genomic Proteomic. 2005;4(2):112-28 PMID: 16102268;
  • Turba ME, Binns M, Mellersh C. Canine microsatellites associated with genes known to cause progressive retinal atrophy in dogs or retinitis pigmentosa in humans. Anim Genet. 2005;36(3):259-61 PMID: 15932411;

Recent Publications

Wade CM et al. Autosomal dominant primary hyperparathyroidism in the Keeshond dog breed is strongly associated with a missense variant in sirtuin-6. Anim Genet. 2025 Dec;56(6)

Ricketts SL et al. Common variants in the CPT1A gene are associated with cataracts in Northern breeds of domestic dog. PLoS One. 2025 Apr 4

Jenkins CA et al. Genome-wide association study of idiopathic epilepsy in the Italian Spinone dog breed. PLoS One. 2025 Mar 5

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