Tutkimuksemme on hyvin aktiivista ja tuloksellista. Olemme keränneet tutkimusryhmän julkaisuja tänne. Osa julkaisuista liittyy kansainväliseen yhteistyöhön, johon olemme myötävaikuttaneet. 


A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia. Heinonen T, Flegel T, Müller H, Kehl A, Hundi S, Matiasek K, Fischer A, Donner J, Forman OP, Lohi H, Hytönen MK. Hum Genet. 2023 May 24.

Breed, age, and social environment are associated with personality traits in dogs. Salonen M, Mikkola S, Niskanen JE, Hakanen E, Sulkama S, Puurunen J, Lohi H. iScience. 2023 Apr 19;26(5):106691.

Metabolomics during canine pregnancy and lactation. Arlt SP, Ottka C, Lohi H, Hinderer J, Lüdeke J, Müller E, Weber C, Kohn B, Bartel A. PLoS One. 2023 May 10;18(5):e0284570.

Distinct healthy and atopic canine gut microbiota is influenced by diet and antibiotics.Sinkko H, Lehtimäki J, Lohi H, Ruokolainen L, Hielm-Björkman A. R Soc Open Sci. 2023 Apr 26;10(4):221104.

A TNR Frameshift Variant in Weimaraner Dogs with an Exercise-Induced Paroxysmal Movement Disorder. Christen M, Gutierrez-Quintana R, Green M, Faller KME, Lowrie M, Rusbridge C, Bossens K, Mellersh C, Pettitt L, Heinonen T, Lohi H, Jagannathan V, Leeb T. Mov Disord. 2023 Apr 6.

Feline litter box issues associate with cat personality, breed, and age at sterilization. Mikkola S, Salonen M, Hakanen E, Lohi H. J Am Vet Med Assoc. 2023 Feb 24;261(5):652-660.

The metabolic differences of anestrus, heat, pregnancy, pseudopregnancy, and lactation in 800 female dogs. Ottka C, Vapalahti K, Arlt SP, Bartel A, Lohi H. Front Vet Sci. 2023 Feb 2;10:1105113.

Translational veterinary epilepsy: A win-win situation for human and veterinary neurology. Charalambous M, Fischer A, Potschka H, Walker MC, Raedt R, Vonck K, Boon P, Lohi H, Löscher W, Worrell G, Leeb T, McEvoy A, Striano P, Kluger G, Galanopoulou AS, Volk HA, Bhatti SFM. Vet J. 2023 Mar;293:105956.

Bayesian mixed model analysis uncovered 21 risk loci for chronic kidney disease in boxer dogs. Lingaas F, Tengvall K, Jansen JH, Pelander L, Hurst MH, Meuwissen T, Karlsson Å, Meadows JRS, Sundström E, Thoresen SI, Arnet EF, Guttersrud OA, Kierczak M, Hytönen MK, Lohi H, Hedhammar Å, Lindblad-Toh K, Wang C. PLoS Genet. 2023 Jan 24;19(1):e1010599.


Metabolic fingerprinting of dogs with idiopathic epilepsy receiving a ketogenic medium-chain triglyceride (MCT) oil. Berk BA, Ottka C, Hong Law T, Packer RMA, Wessmann A, Bathen-Nöthen A, Jokinen TS, Knebel A, Tipold A, Lohi H, Volk HA. Front Vet Sci. 2022 Oct 6;9:935430.

Fearfulness associates with problematic behaviors and poor socialization in cats. Mikkola S, Salonen M, Hakanen E, Lohi H. iScience. 2022 Oct 3;25(10):105265.

Validation of a Chromosome 14 Risk Haplotype for Idiopathic Epilepsy in the Belgian Shepherd Dog Found to Be Associated with an Insertion in the RAPGEF5 Gene. Belanger JM, Heinonen T, Famula TR, Mandigers PJJ, Leegwater PA, Hytönen MK, Lohi H, Oberbauer AM. Genes (Basel). 2022 Jun 23;13(7):1124.

Serum metabolomic profiles in dogs with chronic enteropathy. Walker HK, Boag AM, Ottka C, Lohi H, Handel I, Gow AG, Mellanby RJ. J Vet Intern Med. 2022 Sep;36(5):1752-1759.

Metabolic changes associated with two endocrine abnormalities in dogs: elevated fructosamine and low thyroxine. Ottka C, Puurunen J, Müller E, Weber C, Klein R, Lohi H. Metabolomics. 2022 Jul 20;18(8):58.

Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats.  Anderson H, Davison S, Lytle KM, Honkanen L, Freyer J, Mathlin J, Kyöstilä K, Inman L, Louviere A, Chodroff Foran R, Forman OP, Lohi H, Donner J. PLoS Genet. 2022 Jun 16;18(6):e1009804.

Metabolomic Abnormalities in Serum from Untreated and Treated Dogs with Hyper- and Hypoadrenocorticism. Imbery CA, Dieterle F, Ottka C, Weber C, Schlotterbeck G, Müller E, Lohi H, Giger U. Metabolites. 2022 Apr 9;12(4):339.

Metabolomic serum abnormalities in dogs with hepatopathies. Imbery CA, Dieterle F, Ottka C, Weber C, Schlotterbeck G, Müller E, Lohi H, Giger U. Sci Rep. 2022 Mar 29;12(1):5329.

Metabolomic serum abnormalities in dogs with hepatopathies. Imbery CA, Dieterle F, Ottka C, Weber C, Schlotterbeck G, Müller E, Lohi H, Giger U. Sci Rep. 2022 Mar 29;12(1):5329.

Aggressiveness, ADHD-like behaviour, and environment influence repetitive behaviour in dogs. Sulkama S, Salonen M, Mikkola S, Hakanen E, Puurunen J, Araujo C, Lohi H. Sci Rep. 2022 Mar 24;12(1):3520.

Age, breed, sex and diet influence serum metabolite profiles of 2000 pet dogs. Puurunen J, Ottka C, Salonen M, Niskanen JE, Lohi H. R Soc Open Sci. 2022 Feb 16;9(2):211642.

Personality traits associate with behavioral problems in pet dogs. Salonen M, Mikkola S, Hakanen E, Sulkama S, Puurunen J, Lohi H. Transl Psychiatry. 2022 Feb 23;12(1):78.


Generation of RNA sequencing libraries for transcriptome analysis of globin-rich tissues of the domestic dog. Ezer S, Yoshihara M, Katayama S; DoGA consortium, Daub C, Lohi H, Krjutskov K, Kere J. STAR Protoc. 2021 Dec 12;2(4):100995.

Seasonal variation in serum metabolites of northern European dogs. Walker HK, Ottka C, Lohi H, Handel I, Clements DN, Gow AG, Mellanby RJ. J Vet Intern Med. 2022 Jan;36(1):190-195.

A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog. Hitti-Malin RJ, Burmeister LM, Lingaas F, Kaukonen M, Pettinen I, Lohi H, Sargan D, Mellersh CS. Genes (Basel). 2021 Nov 8;12(11):1771.

Canine hyperactivity, impulsivity, and inattention share similar demographic risk factors and behavioural comorbidities with human ADHD. Sulkama S, Puurunen J, Salonen M, Mikkola S, Hakanen E, Araujo C, Lohi H. Transl Psychiatry. 2021 Oct 1;11(1):501.

Whole Genome Sequencing Reveals Multiple Linked Genetic Variants on Canine Chromosome 12 Associated with Risk for Symmetrical Lupoid Onychodystrophy (SLO) in the Bearded Collie. Gershony LC, Belanger JM, Hytönen MK, Lohi H, Oberbauer AM. Genes (Basel). 2021 Aug 19;12(8):1265.

A novel canine nuclear magnetic resonance spectroscopy-based metabolomics platform: Validation and sample handling. Ottka C, Vapalahti K, Puurunen J, Vahtera L, Lohi H. Vet Clin Pathol. 2021 Sep;50(3):410-426. 

Dog colour patterns explained by modular promoters of ancient canid origin. Bannasch DL, Kaelin CB, Letko A, Loechel R, Hug P, Jagannathan V, Henkel J, Roosje P, Hytönen MK, Lohi H, Arumilli M; DoGA consortium, Minor KM, Mickelson JR, Drögemüller C, Barsh GS, Leeb T. Nat Ecol Evol. 2021 Oct;5(10):1415-1423.

Reliable wolf-dog hybrid detection in Europe using a reduced SNP panel developed for non-invasively collected samples. Harmoinen J, von Thaden A, Aspi J, Kvist L, Cocchiararo B, Jarausch A, Gazzola A, Sin T, Lohi H, Hytönen MK, Kojola I, Stronen AV, Caniglia R, Mattucci F, Galaverni M, Godinho R, Ruiz-González A, Randi E, Muñoz-Fuentes V, Nowak C. BMC Genomics. 2021 Jun 25;22(1):473.

Clinical and Genetic Findings in 28 American Cocker Spaniels with Aural Ceruminous Gland Hyperplasia and Ectasia. Kaimio M, Malkamäki S, Kaukonen M, Ahonen S, Hytönen MK, Rantala M, Lohi H, Saijonmaa-Koulumies L, Laitinen-Vapaavuori O. J Comp Pathol. 2021 May;185:30-44.

Serum NMR metabolomics uncovers multiple metabolic changes in phenobarbital-treated dogs. Ottka C, Weber C, Müller E, Lohi H. Metabolomics. 2021 Jun 2;17(6):54. 

Seizure frequency discrepancy between subjective and objective ictal electroencephalography data in dogs. Ukai M, Parmentier T, Cortez MA, Fischer A, Gaitero L, Lohi H, Nykamp S, Jokinen TS, Powers D, Sammut V, Sanders S, Tai T, Wielaender F, James F. J Vet Intern Med. 2021 Jul;35(4):1819-1825. 

Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss. Hytönen MK, Niskanen JE, Arumilli M, Brookhart-Knox CA, Donner J, Lohi H. Hum Genet. 2021 Nov;140(11):1611-1618.

Aggressive behaviour is affected by demographic, environmental and behavioural factors in purebred dogs. Mikkola S, Salonen M, Puurunen J, Hakanen E, Sulkama S, Araujo C, Lohi H. Sci Rep. 2021 May 3;11(1):9433. doi: 10.1038/s41598-021-88793-5.

Reliability and Validity of a Dog Personality and Unwanted Behavior Survey. Salonen M, Mikkola S, Hakanen E, Sulkama S, Puurunen J, Lohi H. Animals (Basel). 2021 Apr 24;11(5):1234. doi: 10.3390/ani11051234.

In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration. Hytönen MK, Sarviaho R, Jackson CB, Syrjä P, Jokinen T, Matiasek K, Rosati M, Dallabona C, Baruffini E, Quintero I, Arumilli M, Monteuuis G, Donner J, Anttila M, Suomalainen A, Bindoff LA, Lohi H. Hum Genet. 2021 Nov;140(11):1593-1609.

A hypomyelinating leukodystrophy in German Shepherd dogs. Quitt PR, Brühschwein A, Matiasek K, Wielaender F, Karkamo V, Hytönen MK, Meyer-Lindenberg A, Dengler B, Leeb T, Lohi H, Fischer A. J Vet Intern Med. 2021 Mar 18.

A missense variant in IFT122 associated with a canine model of retinitis pigmentosa. Kaukonen M, Pettinen IT, Wickström K, Arumilli M, Donner J, Juhola IJ, Holopainen S, Turunen JA, Yoshihara M, Kere J, Lohi H. Hum Genet. 2021 Feb 19.

Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies. Niskanen JE, Reunanen V, Salonen M, Bannasch D, Lappalainen AK, Lohi H, Hytönen MK. Hum Genet. 2021 Feb 18.

Intronic variant in POU1F1 associated with canine pituitary dwarfism. Kyöstilä K, Niskanen JE, Arumilli M, Donner J, Hytönen MK, Lohi H. Hum Genet. 2021 Nov;140(11):1553-1562.

An across-breed validation study of 46 genetic markers in canine hip dysplasia. Mikkola L, Kyöstilä K, Donner J, Lappalainen AK, Hytönen MK, Lohi H, Iivanainen A.BMC Genomics. 2021 Jan 21;22(1):68.



Effect of prior general anesthesia or sedation and antiseizure drugs on the diagnostic utility of wireless video electroencephalography in dogs. Parmentier T, Monteith G, Cortez MA, Wielaender F, Fischer A, Jokinen TS, Lohi H, Sanders S, Sammut V, Tai T, James FMK.J Vet Intern Med. 2020 Sep;34(5):1967-1974.

High serum creatinine concentration is associated with metabolic perturbations in dogs. Ottka C, Vapalahti K, Määttä AM, Huuskonen N, Sarpanen S, Jalkanen L, Lohi H.J Vet Intern Med. 2021 Jan;35(1):405-414.

Simultaneous allergic traits in dogs and their owners are associated with living environment, lifestyle and microbial exposures. Lehtimäki J, Sinkko H, Hielm-Björkman A, Laatikainen T, Ruokolainen L, Lohi H.Sci Rep. 2020 Dec 15;10(1):21954.

Genetic characterization of Addison's disease in Bearded Collies. Gershony LC, Belanger JM, Hytönen MK, Lohi H, Famula TR, Oberbauer AM.BMC Genomics. 2020 Nov 26;21(1):833.

Formal commentary. Aguirre GD, Lohi H, Kaukonen M, Murgiano L.PLoS Genet. 2020 Nov 5;16(11):e1009059. doi: 10.1371/journal.pgen.1009059. eCollection 2020 Nov.

Altered Basal Autophagy Affects Extracellular Vesicle Release in Cells of Lagotto Romagnolo Dogs With a Variant ATG4D. Syrjä P, Palviainen M, Jokinen T, Kyöstilä K, Lohi H, Roosje P, Anderegg L, Leeb T, Sukura A, Eskelinen EL.Vet Pathol. 2020 Nov;57(6):926-935.

Metabolome of canine and human saliva: a non-targeted metabolomics study. Turunen S, Puurunen J, Auriola S, Kullaa AM, Kärkkäinen O, Lohi H, Hanhineva K. Metabolomics. 2020 Aug 25;16(9):90.

Active and social life is associated with lower non-social fearfulness in pet dogs. Hakanen E, Mikkola S, Salonen M, Puurunen J, Sulkama S, Araujo C, Lohi H.Sci Rep. 2020 Aug 13;10(1):13774.

A novel genomic region on chromosome 11 associated with fearfulness in dogs. Sarviaho R, Hakosalo O, Tiira K, Sulkama S, Niskanen JE, Hytönen MK, Sillanpää MJ, Lohi H.Transl Psychiatry. 2020 May 28;10(1):169.

Assessment of databases to determine the validity of β- and γ-carbonic anhydrase sequences from vertebrates. Zolfaghari Emameh R, Kuuslahti M, Nosrati H, Lohi H, Parkkila S.BMC Genomics. 2020 May 11;21(1):352.

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy. Cogné B, Latypova X, Senaratne LDS, Martin L, Koboldt DC, Kellaris G, Fievet L, Le Meur G, Caldari D, Debray D, Nizon M, Frengen E, Bowne SJ; 99 Lives Consortium, Cadena EL, Daiger SP, Bujakowska KM, Pierce EA, Gorin M, Katsanis N, Bézieau S, Petersen-Jones SM, Occelli LM, Lyons LA, Legeai-Mallet L, Sullivan LS, Davis EE, Isidor B.Am J Hum Genet. 2020 Jun 4;106(6):893-904.

Genome wide association study of 40 clinical measurements in eight dog breeds. Momozawa Y, Merveille AC, Battaille G, Wiberg M, Koch J, Willesen JL, Proschowsky HF, Gouni V, Chetboul V, Tiret L, Fredholm M, Seppälä EH, Lohi H, Georges M, Lequarré AS.Sci Rep. 2020 Apr 16;10(1):6520.

webGQT: A Shiny Server for Genotype Query Tools for Model-Based Variant Filtering. Arumilli M, Layer RM, Hytönen MK, Lohi H. Front Genet. 2020 Mar 3;11:152.

Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs. Dillard KJ, Ochs M, Niskanen JE, Arumilli M, Donner J, Kyöstilä K, Hytönen MK, Anttila M, Lohi H. PLoS Genet. 2020 Mar 9;16(3):e1008651.

A putative silencer variant in a spontaneous canine model of retinitis pigmentosa. Kaukonen M, Quintero IB, Mukarram AK, Hytönen MK, Holopainen S, Wickström K, Kyöstilä K, Arumilli M, Jalomäki S, Daub CO, Kere J, Lohi H; DoGA Consortium. PLoS Genet. 2020 Mar 9;16(3):e1008659.

Prevalence, comorbidity, and breed differences in canine anxiety in 13,700 Finnish pet dogs.

Salonen M, Sulkama S, Mikkola S, Puurunen J, Hakanen E, Tiira K, Araujo C, Lohi H. Sci Rep. 2020 Mar 5;10(1):2962.

Inadequate socialisation, inactivity, and urban living environment are associated with social fearfulness in pet dogs. Puurunen J, Hakanen E, Salonen MK, Mikkola S, Sulkama S, Araujo C, Lohi H. Sci Rep. 2020 Feb 26;10(1):3527.

Whole Genome Sequencing Indicates Heterogeneity of Hyperostotic Disorders in Dogs. Letko A, Leuthard F, Jagannathan V, Corlazzoli D, Matiasek K, Schweizer D, Hytönen MK, Lohi H, Leeb T, Drögemüller C. Genes (Basel). 2020 Feb 4;11(2). pii: E163

A Missense Variant Affecting the C-Terminal Tail of UNC93B1 in Dogs with Exfoliative Cutaneous Lupus Erythematosus (ECLE). Leeb T, Leuthard F, Jagannathan V, Kiener S, Letko A, Roosje P, Welle MM, Gailbreath KL, Cannon A, Linek M, Banovic F, Olivry T, White SD, Batcher K, Bannasch D, Minor KM, Mickelson JR, Hytönen MK, Lohi H, Mauldin EA, Casal ML. Genes (Basel). 2020 Feb 3;11(2). pii: E159.

Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs. Jenkins CA, Kalmar L, Matiasek K, Mari L, Kyöstilä K, Lohi H, Schofield EC, Mellersh CS, De Risio L, Ricketts SL. PLoS Genet. 2020 Jan 30;16(1):e1008527.

Genetic dissection of canine hip dysplasia phenotypes and osteoarthritis reveals three novel loci Mikkola L, Holopainen S, Pessa-Morikawa T, Lappalainen AK, Hytönen MK, Lohi H, Iivanainen A. BMC Genomics. 2019 Dec 27;20(1):1027.

Ventricular arrhythmia and sudden cardiac death in young Leonbergers. Wiberg M, Niskanen JE, Hytönen M, Dillard K, Hagner K, Anttila M, Lohi H. J Vet Cardiol. 2020 Feb;27:10-22.



Dog10K: an international sequencing effort to advance studies of canine domestication, phenotypes and health. Ostrander EA, Wang GD, Larson G, vonHoldt BM, Davis BW, Jagannathan V, Hitte C, Wayne RK, Zhang YP; Dog10K Consortium . Natl Sci Rev. 2019 Jul;6(4):810-824.

TSEN54 missense variant in Standard Schnauzers with leukodystrophy. Störk T, Nessler J, Anderegg L, Hünerfauth E, Schmutz I, Jagannathan V, Kyöstilä K, Lohi H, Baumgärtner W, Tipold A, Leeb T. PLoS Genet. 2019 Oct 4;15(10):e1008411.

A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves. Jagannathan V, Drögemüller C, Leeb T; Dog Biomedical Variant Database Consortium (DBVDC). Anim Genet. 2019 Dec;50(6):695-704.

NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia. 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. PLoS Genet. 2019 Sep 3;15(9):e1008378.

Novel Locus Associated with Symmetrical Lupoid Onychodystrophy in the Bearded Collie. Gershony LC, Belanger JM, Hytönen MK, Lohi H, Oberbauer AM. Genes (Basel). 2019 Aug 22;10(9). pii: E635.

Novel protective and risk loci in hip dysplasia in German Shepherds. Mikkola LI, Holopainen S, Lappalainen AK, Pessa-Morikawa T, Augustine TJP, Arumilli M, Hytönen MK, Hakosalo O, Lohi H, Iivanainen A. PLoS Genet. 2019 Jul 19;15(7):e1008197.

Thoracic high resolution CT using the modified VetMousetrap™ device is a feasible method for diagnosing canine idiopathic pulmonary fibrosis in awake West Highland White Terriers. Holopainen S, Rautala E, Lilja-Maula L, Lohi H, Rajamäki MM, Lappalainen AK. Vet Radiol Ultrasound. 2019 Sep;60(5):525-532.

Breed differences of heritable behaviour traits in cats. Salonen M, Vapalahti K, Tiira K, Mäki-Tanila A, Lohi H. Sci Rep. 2019 May 28;9(1):7949.

Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration. Hitti RJ, Oliver JAC, Schofield EC, Bauer A, Kaukonen M, Forman OP, Leeb T, Lohi H, Burmeister LM, Sargan D, Mellersh CS. Genes (Basel). 2019 May 21;10(5). pii: E385.

Association between dog ownership and type 2 diabetes in later life: the Helsinki birth cohort study. Laine MK, Wasenius NS, Lohi H, Simonen M, Tiira K, Eriksson JG, Salonen MK. Int J Circumpolar Health. 2019 Dec;78(1):1611328.

A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions. Hytönen MK, Lohi H. Hum Genet. 2019 May;138(5):535-539.

Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. Hytönen MK, Arumilli M, Sarkiala E, Nieminen P, Lohi H. Hum Genet. 2019 May;138(5):525-533.

DLA class II risk haplotypes for autoimmune diseases in the bearded collie offer insight to autoimmunity signatures across dog breeds. Gershony LC, Belanger JM, Short AD, Le M, Hytönen MK, Lohi H, Famula TR, Kennedy LJ, Oberbauer AM. Canine Genet Epidemiol. 2019 Feb 15;6:2.

Breed-specific reference ranges for standard echocardiographic measurements in salukis. Giraut S, Häggström J, Koskinen LLE, Lohi H, Wiberg M.J Small Anim Pract. 2019 Jan 31. doi: 10.1111/jsap.12975.

A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia. Kyöstilä K, Syrjä P, Lappalainen AK, Arumilli M, Hundi S, Karkamo V, Viitmaa R, Hytönen MK, Lohi H. Sci Rep. 2019 Jan 30;9(1):973. doi: 10.1038/s41598-018-37801-2.

A novel KRT71 variant in curly-coated dogs. Salmela E, Niskanen J, Arumilli M, Donner J, Lohi H, Hytönen MK. Anim Genet. 2019 Feb;50(1):101-104.

Two novel genomic regions associated with fearfulness in dogs overlap human neuropsychiatric loci. Sarviaho R, Hakosalo O, Tiira K, Sulkama S, Salmela E, Hytönen MK, Sillanpää MJ, Lohi H. Transl Psychiatry. 2019 Jan 17;9(1):18.


Interbreed variation of biomarkers of lipid and glucose metabolism in dogs. Gomez-Fernandez-Blanco C, Peeters D, Moyse E, Farnir F, Höglund K, Gouni V, Wiberg M, Lundgren Willesen J, Hanås S, McEntee K, Tiret L, Häggström J, Lohi H, Chetboul V, Fredholm M, Seppälä EH, Lequarré AS, Merveille AC. Vet Clin Pathol. 2018 Dec;47(4):582-588.

First genome-wide CNV mapping in FELIS CATUS using next generation sequencing data. Genova F, Longeri M, Lyons LA, Bagnato A; 99Lives Consortium, Strillacci MG. BMC Genomics. 2018 Dec 10;19(1):895.

Fearful dogs have increased plasma glutamine and γ-glutamyl glutamine. Puurunen J, Tiira K, Vapalahti K, Lehtonen M, Hanhineva K, Lohi H. Sci Rep. 2018 Oct 29;8(1):15976.

Dog Ownership from a Life Course Perspective and Leisure-time Physical Activity in Late Adulthood: The Helsinki Birth Cohort Study. Wasenius NS, Laine MK, Savola S, Simonen M, Tiira K, Lohi H, Eriksson JG, Salonen MK. Am J Health Behav. 2018 Nov 1;42(6):11-18.

Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs. Holden LA, Arumilli M, Hytönen MK, Hundi S, Salojärvi J, Brown KH, Lohi H. Sci Rep. 2018 Jul 18;8(1):10862.

Myotonia congenita in a Labrador Retriever with truncated CLCN1. Quitt PR, Hytönen MK, Matiasek K, Rosati M, Fischer A, Lohi H. Neuromuscul Disord. 2018 Jul;28(7):597-605.

Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies. Dürig N, Letko A, Lepori V, Hadji Rasouliha S, Loechel R, Kehl A, Hytönen MK, Lohi H, Mauri N, Dietrich J, Wiedmer M, Drögemüller M, Jagannathan V, Schmutz SM, Leeb T. Anim Genet. 2018 Aug;49(4):284-290.

Interbreed variation in serum serotonin (5-hydroxytryptamine) concentration in healthy dogs. Höglund K, Häggström J, Hanås S, Merveille AC, Gouni V, Wiberg M, Lundgren Willesen J, Entee KM, Mejer Sørensen L, Tiret L, Seppälä EH, Lohi H, Chetboul V, Fredholm M, Lequarré AS, Ljungvall I. J Vet Cardiol. 2018 Aug;20(4):244-253.

Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease. Kaukonen M, Woods S, Ahonen S, Lemberg S, Hellman M, Hytönen MK, Permi P, Glaser T, Lohi H. Cell Rep. 2018 May 29;23(9):2643-2652.

Applications and efficiencies of the first cat 63K DNA array. Gandolfi B, Alhaddad H, Abdi M, Bach LH, Creighton EK, Davis BW, Decker JE, Dodman NH, Grahn JC, Grahn RA, Haase B, Haggstrom J, Hamilton MJ, Helps CR, Kurushima JD, Lohi H, Longeri M, Malik R, Meurs KM, Montague MJ, Mullikin JC, Murphy WJ, Nilson SM, Pedersen NC, Peterson CB, Rusbridge C, Saif R, Shelton GD, Warren WC, Wasim M, Lyons LA. Sci Rep. 2018 May 4;8(1):7024.

Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs. Donner J, Anderson H, Davison S, Hughes AM, Bouirmane J, Lindqvist J, Lytle KM, Ganesan B, Ottka C, Ruotanen P, Kaukonen M, Forman OP, Fretwell N, Cole CA, Lohi H. PLoS Genet. 2018 Apr 30;14(4):e1007361.

Skin microbiota and allergic symptoms associate with exposure to environmental microbes. Lehtimäki J, Sinkko H, Hielm-Björkman A, Salmela E, Tiira K, Laatikainen T, Mäkeläinen S, Kaukonen M, Uusitalo L, Hanski I, Lohi H, Ruokolainen L. Proc Natl Acad Sci U S A. 2018 May 8;115(19):4897-4902.

MKLN1 splicing defect in dogs with lethal acrodermatitis. Bauer A, Jagannathan V, Högler S, Richter B, McEwan NA, Thomas A, Cadieu E, André C, Hytönen MK, Lohi H, Welle MM, Roosje P, Mellersh C, Casal ML, Leeb T. PLoS Genet. 2018 Mar 22;14(3):e1007264.

The Endo-Lysosomal System of Brain Endothelial Cells Is Influenced by Astrocytes In Vitro. Toth AE, Siupka P, P Augustine TJ, Venø ST, Thomsen LB, Moos T, Lohi HT, Madsen P, Lykke-Hartmann K, Nielsen MS. Mol Neurobiol. 2018 Nov;55(11):8522-8537.

Urban environment predisposes dogs and their owners to allergic symptoms. Hakanen E, Lehtimäki J, Salmela E, Tiira K, Anturaniemi J, Hielm-Björkman A, Ruokolainen L, Lohi H. Sci Rep. 2018 Jan 25;8(1):1585.

Absence Seizures as a Feature of Juvenile Myoclonic Epilepsy in Rhodesian Ridgeback Dogs. Wielaender F, James FMK, Cortez MA, Kluger G, Neßler JN, Tipold A, Lohi H, Fischer A. J Vet Intern Med. 2018 Jan;32(1):428-432.


Toxoplasma gondii seroprevalence varies by cat breed. Must K, Hytönen MK, Orro T, Lohi H, Jokelainen P. PLoS One. 2017 Sep 8;12(9):e0184659.

Early weaning increases aggression and stereotypic behaviour in cats. Ahola MK, Vapalahti K, Lohi H. Sci Rep. 2017 Sep 4;7(1):10412. doi: 10.1038/s41598-017-11173-5.

An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs. Everson R, Pettitt L, Forman OP, Dower-Tylee O, McLaughlin B, Ahonen S, Kaukonen M, Komáromy AM, Lohi H, Mellersh CS, Sansom J, Ricketts SL. PLoS One. 2017 Aug 16;12(8):e0183021. doi: 10.1371/journal.pone.0183021. eCollection 2017.

Diagnostic Utility of Wireless Video-Electroencephalography in Unsedated Dogs. James FMK, Cortez MA, Monteith G, Jokinen TS, Sanders S, Wielaender F, Fischer A, Lohi H. J Vet Intern Med. 2017 Jul 31. doi: 10.1111/jvim.14789. 

Paroxysmal Dyskinesia in Border Terriers: Clinical, Epidemiological, and Genetic Investigations. Stassen QEM, Koskinen LLE, van Steenbeek FG, Seppälä EH, Jokinen TS, Prins PGM, Bok HGJ, Zandvliet MMJM, Vos-Loohuis M, Leegwater PAJ, Lohi H.

J Vet Intern Med. 2017 Jul;31(4):1123-1131. doi: 10.1111/jvim.14731.

Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers. Cox ML, Evans JM, Davis AG, Guo LT, Levy JR, Starr-Moss AN, Salmela E, Hytönen MK, Lohi H, Campbell KP, Clark LA, Shelton GD. Skelet Muscle. 2017 Jul 11;7:15. doi: 10.1186/s13395-017-0131-0. eCollection 2017.

Basal Autophagy Is Altered in Lagotto Romagnolo Dogs with an ATG4D Mutation. Syrjä P, Anwar T, Jokinen T, Kyöstilä K, Jäderlund KH, Cozzi F, Rohdin C, Hahn K, Wohlsein P, Baumgärtner W, Henke D, Oevermann A, Sukura A, Leeb T, Lohi H, Eskelinen EL. Vet Pathol. 2017 Jan 1:300985817712793. doi: 10.1177/0300985817712793.

Genetic rescue of an endangered domestic animal through outcrossing with closely related breeds: A case study of the Norwegian Lundehund. Stronen AV, Salmela E, Baldursdóttir BK, Berg P, Espelien IS, Järvi K, Jensen H, Kristensen TN, Melis C, Manenti T, Lohi H, Pertoldi C. PLoS One. 2017 Jun 1;12(6):e0177429. doi: 10.1371/journal.pone.0177429. eCollection 2017.

A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy. Chew T, Haase B, Bathgate R, Willet CE, Kaukonen MK, Mascord LJ, Lohi HT, Wade CM. G3 (Bethesda). 2017 Jul 5;7(7):2327-2335. doi: 10.1534/g3.117.043109.

Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs. Niskanen J, Dillard K, Arumilli M, Salmela E, Anttila M, Lohi H, Hytönen MK. PLoS One. 2017 May 11;12(5):e0177527. doi: 10.1371/journal.pone.0177527. eCollection 2017.

Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes). Oh A, Pearce JW, Gandolfi B, Creighton EK, Suedmeyer WK, Selig M, Bosiack AP, Castaner LJ, Whiting RE, Belknap EB, Lyons LA; 99 Lives Consortium. Sci Rep. 2017 Mar 21;7:43918. doi: 10.1038/srep43918.

Association study reveals novel risk loci for sporadic inclusion body myositis. Johari M, Arumilli M, Palmio J, Savarese M, Tasca G, Mirabella M, Sandholm N, Lohi H, Hackman P, Udd B. Eur J Neurol. 2017 Feb 24. doi: 10.1111/ene.13244.

Precision Medicine in Cats: Novel Niemann-Pick Type C1 Diagnosed by Whole-Genome Sequencing. Mauler DA, Gandolfi B, Reinero CR, O'Brien DP, Spooner JL, Lyons LA; 99 Lives Consortium. J Vet Intern Med. 2017 Feb 24. doi: 10.1111/jvim.14599.

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1. Wielaender F, Sarviaho R, James F, Hytönen MK, Cortez MA, Kluger G, Koskinen LL, Arumilli M, Kornberg M, Bathen-Noethen A, Tipold A, Rentmeister K, Bhatti SF, Hülsmeyer V, Boettcher IC, Tästensen C, Flegel T, Dietschi E, Leeb T, Matiasek K, Fischer A, Lohi H. Proc Natl Acad Sci U S A. 2017 Mar 7;114(10):2669-2674. doi: 10.1073/pnas.1614478114.

ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs. Holopainen S, Hytönen MK, Syrjä P, Arumilli M, Järvinen AK, Rajamäki M, Lohi H.

PLoS Genet. 2017 Feb 21;13(2):e1006625. doi: 10.1371/journal.pgen.1006625.

ADAM23 is a common risk gene for canine idiopathic epilepsy. Koskinen LL, Seppälä EH, Weissl J, Jokinen TS, Viitmaa R, Hänninen RL, Quignon P, Fischer A, André C, Lohi H.

BMC Genet. 2017 Jan 31;18(1):8. doi: 10.1186/s12863-017-0478-6.

Deep sequencing of a candidate region harboring the SOX9 gene for the canine XX disorder of sex development. Nowacka-Woszuk J, Szczerbal I, Pausch H, Hundi S, Hytönen MK, Grzemski A, Flisikowski K, Lohi H, Switonski M, Szydlowski M. Anim Genet. 2017 Jan 17. doi: 10.1111/age.12538.

FEELnc: a tool for long non-coding RNA annotation and its application to the dog transcriptome. Wucher V, Legeai F, Hédan B, Rizk G, Lagoutte L, Leeb T, Jagannathan V, Cadieu E, David A, Lohi H, Cirera S, Fredholm M, Botherel N, Leegwater PA, Le Béguec C, Fieten H, Johnson J, Alföldi J, André C, Lindblad-Toh K, Hitte C, Derrien T. Nucleic Acids Res. 2017 Jan 3. pii: gkw1306. doi: 10.1093/nar/gkw1306.



No evidence of prenatal diversifying selection at locus or supertype levels in the dog MHC class II loci. Niskanen AK, Kennedy LJ, Lohi H, Aspi J, Pyhäjärvi T. Canine Genet Epidemiol. 2016 Nov 18;3:9.

Canine models of human rare disorders. Hytönen MK and Lohi H., Rare Dis, Vol. 4, No. 1, e1241362, 2016.

A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats. Aberdein D, Munday JS, Gandolfi B, Dittmer KE, Malik R, Garrick DJ, Lyons LA; 99 Lives Consortium (incl H Lohi). Mamm Genome. 2016 Oct 21.

A non-targeted metabolite profiling pilot study suggests that tryptophan and lipid metabolisms are linked with ADHD-like behaviours in dogs. Puurunen J, Sulkama S, Tiira K, Araujo C, Lehtonen M, Hanhineva K, Lohi H. Behav Brain Funct. 2016 Sep 29;12(1):27.

Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples. Wang J, Skoog T, Einarsdottir E, Kaartokallio T, Laivuori H, Grauers A, Gerdhem P, Hytönen M, Lohi H, Kere J, Jiao H. Sci Rep. 2016 Sep 16;6:33256. doi: 10.1038/srep33256.

Health and Behavioral Survey of over 8000 Finnish Cats. Katariina Vapalahti,  Anna-Maija Virtala,  Tara A. Joensuu,  Katriina Tiira, Jaana Tähtinen, and Hannes Lohi. Front. Vet. Sci., 29 August 2016. 

Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. Donner J, Kaukonen M, Anderson H, Möller F, Kyöstilä K, Sankari S, Hytönen M, Giger U, Lohi H. PLoS One. 2016 Aug 15;11(8):e0161005. doi: 10.1371/journal.pone.0161005. eCollection 2016.

Globin mRNA reduction for whole-blood transcriptome sequencing. Krjutškov K, Koel M, Roost AM, Katayama S, Einarsdottir E, Jouhilahti EM, Söderhäll C, Jaakma Ü, Plaas M, Vesterlund L, Lohi H, Salumets A, Kere J. Sci Rep. 2016 Aug 12;6:31584. doi: 10.1038/srep31584.

Mitä koirien geenit ovat meille opettaneet? Lohi Hannes Pääkirjoitus. Duodecim, 132(13):1200-2, 2016.

Domesticated Animal Biobanking: Land of Opportunity. Groeneveld LF, Gregusson S, Guldbrandtsen B, Hiemstra SJ, Hveem K, Kantanen J, Lohi H, Stroemstedt L, Berg P.
PLoS Biol. 2016 Jul 28;14(7):e1002523. doi: 10.1371/journal.pbio.1002523. eCollection 2016

The canine era: the rise of a biomedical model. van Steenbeek FG, Hytönen MK, Leegwater PA, Lohi H. Anim Genet. 2016 Oct;47(5):519-27. doi: 10.1111/age.12460. Epub 2016 Jun 21. Review.

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. Hytönen MK, Arumilli M, Lappalainen AK, Owczarek-Lipska M, Jagannathan V, Hundi S, Salmela E, Venta P, Sarkiala E, Jokinen T, Gorgas D, Kere J, Nieminen P, Drögemüller C, Lohi H. PLoS Genet. 2016 May 17;12(5):e1006037.

A frameshift mutation in ARMC3 is associated with a tail stump sperm defect in Swedish Red (Bos taurus) cattle. Pausch H, Venhoranta H, Wurmser C, Hakala K, Iso-Touru T, Sironen A, Vingborg RK, Lohi H, Söderquist L, Fries R, Andersson M. BMC Genet. 2016 Feb 29;17(1):49.

Non-targeted metabolite profiling reveals changes in oxidative stress, tryptophan and lipid metabolisms in fearful dogs. Puurunen J, Tiira K, Lehtonen M, Hanhineva K, Lohi H.
Behav Brain Funct. 2016 Feb 12;12(1):7. doi: 10.1186/s12993-016-0091-2.

Genome-wide Association Study in Mice Identifies Loci Affecting Liver-related Phenotypes Including Sel1l Influencing Serum Bile Acids. Wu W, Patel A, Kyöstilä K, Lohi H, Mladkova N, Kiryluk K, Sun X, Lefkowitch JH, Worman HJ, Gharavi AG. Hepatology. 2016 Feb 9. doi: 10.1002/hep.28495.

Effect of Breed on Plasma Endothelin-1 Concentration, Plasma Renin Activity, and Serum Cortisol Concentration in Healthy Dogs. Höglund K, Lequarré AS, Ljungvall I, Mc Entee K, Merveille AC, Wiberg M, Gouni V, Lundgren Willesen J, Hanås S, Wess G, Mejer Sørensen L, Tiret L, Kierczak M, Forsberg SK, Seppälä E, Lindblad-Toh K, Lohi H, Chetboul V, Fredholm M, Häggström J. J Vet Intern Med. 2016.

Out of southern East Asia: the natural history of domestic dogs across the world. Wang GD, Zhai W, Yang HC, Wang L, Zhong L, Liu YH, Fan RX, Yin TT, Zhu CL, Poyarkov AD, Irwin DM, Hytönen MK, Lohi H, Wu CI, Savolainen P, Zhang YP. Cell Res. 2016 Jan;26(1):21-33. doi: 10.1038/cr.2015.147.

Early Life Experiences and Exercise Associate with Canine Anxieties. Tiira K, Lohi H. PLoS One. 2015 Nov 3;10(11):e0141907. doi: 10.1371/journal.pone.0141907. eCollection 2015.

Canine MPV17 truncation without clinical manifestations. Hänninen RL, Ahonen S, Màrquez M, Myöhänen MJ, Hytönen MK, Lohi H. Biol Open. 2015 Sep 9;4(10):1253-8. doi: 10.1242/bio.013870.

Identification of a common risk haplotype for canine idiopathic epilepsy in the ADAM23 gene. Koskinen LL, Seppälä EH, Belanger JM, Arumilli M, Hakosalo O, Jokinen P, Nevalainen EM, Viitmaa R, Jokinen TS, Oberbauer AM, Lohi H. BMC Genomics. 2015 Jun 18;16:465. doi: 10.1186/s12864-015-1651-9.

Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease. Wilbe M, Kozyrev SV, Farias FH, Bremer HD, Hedlund A, Pielberg GR, Seppälä EH, Gustafson U, Lohi H, Carlborg Ö, Andersson G, Hansson-Hamlin H, Lindblad-Toh K. PLoS Genet. 2015 Jun 9;11(6):e1005248. doi: 10.1371/journal.pgen.1005248. eCollection 2015 Jun.

The Shepherds' Tale: A Genome-Wide Study across 9 Dog Breeds Implicates Two Loci in the Regulation of Fructosamine Serum Concentration in Belgian Shepherds. Forsberg SK, Kierczak M, Ljungvall I, Merveille AC, Gouni V, Wiberg M, Lundgren Willesen J, Hanås S, Lequarré AS, Mejer Sørensen L, Tiret L, McEntee K, Seppälä E, Koch J, Battaille G, Lohi H, Fredholm M, Chetboul V, Häggström J, Carlborg Ö, Lindblad-Toh K, Höglund K. PLoS One. 2015 May 13;10(5):e0123173. doi: 10.1371/journal.pone.0123173. eCollection 2015.

Behavioral Abnormalities in Lagotto Romagnolo Dogs with a History of Benign Familial Juvenile Epilepsy: A Long-Term Follow-Up Study. Jokinen TS, Tiira K, Metsähonkala L, Seppälä EH, Hielm-Björkman A, Lohi H, Laitinen-Vapaavuori O. J Vet Intern Med. 2015 Jul-Aug;29(4):1081-7. doi: 10.1111/jvim.12611. Epub 2015 May 6.

A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease. Kyöstilä K, Syrjä P, Jagannathan V, Chandrasekar G, Jokinen TS, Seppälä EH, Becker D, Drögemüller M, Dietschi E, Drögemüller C, Lang J, Steffen F, Rohdin C, Jäderlund KH, Lappalainen AK, Hahn K, Wohlsein P, Baumgärtner W, Henke D, Oevermann A, Kere J, Lohi H, Leeb T. PLoS Genet. 2015 Apr 15;11(4):e1005169. doi: 10.1371/journal.pgen.1005169. eCollection 2015 Apr.


Reliability and validity of a questionnaire survey in canine anxiety research. Katriina Tiira and Hannes Lohi. Applied Animal Behaviour Science 2014; 155:82–92.

Increased expression of MERTK is associated with a unique form of canine retinopathy.
Ahonen SJ, Arumilli M, Seppälä E, Hakosalo O, Kaukonen MK, Komáromy AM, Lohi H.
PLoS One. 2014 Dec 17;9(12):e114552. doi: 10.1371/journal.pone.0114552. eCollection 2014.
PMID: 25517981.

A novel missense mutation in ADAMTS10 in Norwegian Elkhound primary glaucoma.
Ahonen SJ, Kaukonen M, Nussdorfer FD, Harman CD, Komáromy AM, Lohi H.
PLoS One. 2014 Nov 5;9(11):e111941. doi: 10.1371/journal.pone.0111941. eCollection 2014.

In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle. Venhoranta H, Pausch H, Flisikowski K, Wurmser C, Taponen J, Rautala H, Kind A, Schnieke A, Fries R, Lohi H, Andersson M. BMC Genomics. 2014 Oct 12;15:890. doi: 10.1186/1471-2164-15-890.

A novel form of progressive retinal atrophy in Swedish vallhund dogs. Cooper AE, Ahonen S, Rowlan JS, Duncan A, Seppälä EH, Vanhapelto P, Lohi H, Komáromy AM. PLoS One. 2014 Sep 8;9(9):e106610. doi: 10.1371/journal.pone.0106610. eCollection 2014.

Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency.
Nieminen TT, O'Donohue MF, Wu Y, Lohi H, Scherer SW, Paterson AD, Ellonen P, Abdel-Rahman WM, Valo S, Mecklin JP, Järvinen HJ, Gleizes PE, Peltomäki P. Gastroenterology. 2014 Sep;147(3):595-598.e5. doi: 10.1053/j.gastro.2014.06.009. Epub 2014 Jun 15.

Genetics of canine anal furunculosis in the German shepherd dog. Massey J, Short AD, Catchpole B, House A, Day MJ, Lohi H, Ollier WE, Kennedy LJ. Immunogenetics. 2014 May;66(5):311-24. doi: 10.1007/s00251-014-0766-5. Epub 2014 Mar 14.

Breed differences in natriuretic peptides in healthy dogs. Sjöstrand K, Wess G, Ljungvall I, Häggström J, Merveille AC, Wiberg M, Gouni V, Lundgren Willesen J, Hanås S, Lequarré AS, Mejer Sørensen L, Wolf J, Tiret L, Kierczak M, Forsberg S, McEntee K, Battaille G, Seppälä E, Lindblad-Toh K, Georges M, Lohi H, Chetboul V, Fredholm M, Höglund K.
J Vet Intern Med. 2014 Mar-Apr;28(2):451-7. doi: 10.1111/jvim.12310. Epub 2014 Feb 3.

Exploration of known stereotypic behaviour-related candidate genes in equine crib-biting.
Hemmann K, Ahonen S, Raekallio M, Vainio O, Lohi H. Animal. 2014 Mar;8(3):347-53. doi: 10.1017/S1751731113002346. Epub 2014 Jan 6.

Balancing selection and heterozygote advantage in major histocompatibility complex loci of the bottlenecked Finnish wolf population. Niskanen AK, Kennedy LJ, Ruokonen M, Kojola I, Lohi H, Isomursu M, Jansson E, Pyhäjärvi T, Aspi J. Mol Ecol. 2014 Feb;23(4):875-89. doi: 10.1111/mec.12647.


Canine Chondrodysplasia Caused by a Truncating Mutation in Collagen-binding Integrin Alpha Subunit 10. K Kyöstilä, AK Lappalainen and H Lohi. PLoS One. 2013 Sep;8(9):e75621.


A CNGB1 Frameshift Mutation in Papillon and Phalène Dogs with Progressive Retinal Atrophy Saija J. Ahonen, Meharji Arumilli, Hannes Lohi. PLoS One. 2013 Aug;8(8):e72122.


Genome-Wide Association Study Identifies a Novel Canine Glaucoma Locus Saija J. Ahonen, Elina Pietilä, Cathryn S. Mellersh, Katriina Tiira, Liz Hansen, Gary S. Johnson, Hannes Lohi PLoS One. 2013 Aug;8(8): e70903.



Variation in genes related to cochlear biology is strongly associated with adult-onset deafness in border collies. Yokoyama JS, Lam ET, Ruhe AL, Erdman CA, Robertson KR, Webb AA, Williams DC, Chang ML, Hytönen MK, Lohi H, Hamilton SP, Neff MW. PLoS Genet. 2012 Sep;8(9):e1002898. doi: 10.1371/journal.pgen.1002898. Epub 2012 Sep 13.


Novel origins of copy number variation in the dog genome. Berglund J, Nevalainen EM, Molin AM, Perloski M, Lupa TL, Andre C, Zody MC, Sharpe T, Hitte C, Lindblad-Toh K, Lohi H, Webster MT. Genome Biol. 2012 Aug 23;13(8):R73.


Environmental effects on compulsive tail chasing in dogs. Tiira K, Hakosalo O, Kareinen L, Thomas A, Hielm-Björkman A, Escriou C, Arnold P, Lohi H. PLoS One. 2012;7(7):e41684. Epub 2012 Jul 26.


A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII. Hytönen MK, Arumilli M, Lappalainen AK, Kallio H, Snellman M, Sainio K, Lohi H. PLoS One. 2012;7(7):e40281. Epub 2012 Jul 5.


A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery. Kyöstilä K, Cizinauskas S, Seppälä EH, Suhonen E, Jeserevics J, Sukura A, Syrjä P, Lohi H. PLoS Genet. 2012;8(6):e1002759. Epub 2012 Jun 14.


Identification of a novel idiopathic epilepsy locus in Belgian Shepherd dogs. Seppälä EH, Koskinen LL, Gulløv CH, Jokinen P, Karlskov-Mortensen P, Bergamasco L, Baranowska Körberg I, Cizinauskas S, Oberbauer AM, Berendt M, Fredholm M, Lohi H. PLoS One. 2012;7(3):e33549. Epub 2012 Mar 23.



Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping. Vaysse A, Ratnakumar A, Derrien T, Axelsson E, Rosengren Pielberg G, Sigurdsson S, Fall T, Seppälä EH, Hansen MS, Lawley CT, Karlsson EK; LUPA Consortium, Bannasch D, Vilà C, Lohi H, Galibert F, Fredholm M, Häggström J, Hedhammar A, André C, Lindblad-Toh K, Hitte C, Webster MT. PLoS Genet. 2011 Oct;7(10):e1002316. Epub 2011 Oct 13.

ADAMTS17 mutation associated with primary lens luxation is widespread among breeds. Gould D, Pettitt L, McLaughlin B, Holmes N, Forman O, Thomas A, Ahonen S, Lohi H, O'Leary C, Sargan D, Mellersh C. Vet Ophthalmol. 2011 Nov;14(6):378-84. doi: 10.1111/j.1463-5224.2011.00892.x. Epub 2011 Aug 3.

Evaluation of DLA promoters in Doberman hepatitis. Dyggve H, Meri S, Spillmann T, Lohi H, Kennedy LJ, Speeti M. Tissue Antigens. 2011 Dec;78(6):446-50. doi: 10.1111/j.1399-0039.2011.01784.x.

Critical evaluation of the use of dogs in biomedical research and testing in Europe. Hasiwa N, Bailey J, Clausing P, Daneshian M, Eileraas M, Farkas S, Gyertyan I, Hubrecht R, Kobel W, Krummenacher G, Leist M, Lohi H, Miklosi A, Ohl F, Olejniczak K, Schmitt G, Sinnett-Smith P, Smith D, Wagner K, Yager JD, Zurlo J, Hartung T. ALTEX. 2011;28(4):326-40.

Disease Progression and Treatment Response of Idiopathic Epilepsy in Australian Shepherd Dogs. Weissl J, Hülsmeyer V, Brauer C, Tipold A, Koskinen LL, Kyöstilä K, Lohi H, Sauter-Louis C, Wolf M, Fischer A. J Vet Intern Med. 2011 Dec 19. doi: 10.1111/j.1939-1676.2011.00853.x. [Epub ahead of print]

Genome-wide association study in Dachshund: identification of a major locus affecting intervertebral disc calcification. Mette Sloth Mogensen, Peter Karlskov-Mortensen, Helle Friis Proschowsky, Frode Lingaas, Anu Lappalainen, Hannes Lohi, Vibeke Frøkjær Jensen, Merete Fredholm. J. Hered. 2011 Sep-Oct;102 Suppl 1:S81-6.

LUPA: a European initiative taking advantage of the canine genome architecture for unravelling complex disorders in both human and dogs. Lequarré AS, Andersson L, André C, Fredholm M, Hitte C, Leeb T, Lohi H, Lindblad-Toh K, Georges M. Vet J. 2011 Aug;189(2):155-9. Epub 2011 Jul 12.

LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs. Seppälä EH, Jokinen TS, Fukata M, Fukata Y, Webster MT, Karlsson EK, Kilpinen SK, Steffen F, Dietschi E, Leeb T, Eklund R, Zhao X, Rilstone JJ, Lindblad-Toh K, Minassian BA, Lohi H.PLoS Genet. 2011 Jul;7(7):e1002194. Epub 2011 Jul 28.

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan Terriers. Farias FH, Zeng R, Johnson GS, Wininger FA, Taylor JF, Schnabel RD, McKay SD, Sanders DN, Lohi H, Seppälä EH, Wade CM, Lindblad-Toh K,  O’Brien DP and Katz ML. Neurobiol Dis, 2011 Jun; 42(3):468-74.

MHC class II risk haplotype associated with canine chronic superficial keratitis in German Shepherd Dogs. Jokinen P, Rusanen E, Kennedy L and Lohi H. Vet Immunol Immunopathol. 140(1-2):37-41, 2011.

Phosphorylation leads to the polyglucosan transport defect underlying Lafora epilepsy. Girard J-M, Scellig SDS, Lohi H, Blaszykowski C, Teixeira C, Turnbull J, Wang A, Draginov A, Zhao X, Frankland P and Minassian BA. PlosGenet, in press, 2011.

Association of Doberman Hepatitis to Canine Major Histocompatibility Complex II. Dyggve H, Kennedy LJ, Meri S, Spillmann T,Lohi H* and  Speeti M* Tissue Antigens, 77(1):30-5, 2011.



Segregation of Point mutation heteroplasmy in the control region of dog mtDNA studied systematically in deep generation pedigrees. Klütsch CFC, Seppälä EH, Uhlén M, Lohi H and Savolainen P.Int J Legal Med, 2010 Nov 4.  


Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3) in Lapponian Herders.Zangerl B, Wickström K, Savik J, Lindauer SJ, Ahonen S, Schelling C, Guziewicz KE, Lohi H, Aguirre GD. Mol Vis. 2010 Dec 16;16:2791-804.


A novel mutation in the maternally imprinted PEG3 domain results in a loss of MIMT1 expression and causes abortions and stillbirths in cattle (Bos taurus). Flisikowski K, Venhoranta H, Nowacka-Woszuk J, MacKay SD, Flyckt A, Taponen J, Schnabel RD, Schwarzenbacher R, Szczerbal I, Lohi H, Fries R, Taylor JF, Switonski Mand Andersson M. PlosGenetics, Nov 30, 2010.


Exonic mutations in the L2HGDH gene in Staffordshire bull terriers. Short AD, Mellersh CS, Platt H, Dunn A, Boulton S, Carter SD, Timofte D, Lohi H and Ollier WER. Vet Rec. 167: 455-457, 2010.  


An ADAMTS17 Splice Donor Mutation in Dogs with Primary Lens Luxation. Farias FHG, Johnson GS, Taylor JF, Giuliano E, Katz ML, Sanders DN, Schnabel RD, McKay SD, Khan S, Gharahkhani P, O’Leary CA, Pettitt L, Forman O, Boursnell M, McLaughlin B, Ahonen S, Lohi H, Hernandez-Merino E, Gould DJ, Sargan DR, and Mellersh C. Invest Ophthal and Vis Science, 51(9):4716-21, 2010.


Regional occurrence, high frequency but low diversity of mitochondrial DNA haplogroup d1 suggests a recent wolf-dog hybridization in Scandinavia. Klütsch C, Seppälä EH, Fall T, Uhlén M, Hedhammar Å, Lohi H and Savolainen P., Anim Genet, 2010.


Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex. Wilbe M, Jokinen P, Truvé K, Seppala E, Karlsson E, Biagi T, Hughes A, Bannasch D, Andersson G, Hansson-Hamlin H*, Lohi H* and Lindblad-Toh K* Nat Genet, 2010, 42(3):250-4.


Association of a dog leukocyte antigen class II haplotype withhypoadrenocorticism in Nova Scotia Duck Tolling Retrievers. Hughes AM*, Jokinen P*, Bannasch DL, Lohi H, Oberbauer AM. Tissue Antigens, 75(6):684-90, 2010.


Assessment of the functionality of genome-wide canine SNP arrays and implications for canine disease association studies. Ke X, Kennedy LJ, Short SM, Seppälä EH, Barnes A, Clements DN, Wooda SH, Carter SD, Happe GM, Lohi H, Ollier WER. Anim Genet, 2010 Nov 11.




DLA three locus class II haplotypes in four dog breeds with limited geographical distributions. Kennedy LJ*, Niskanen A*, Ollier WER and Lohi H. Submitted to Tissue Antigens, 2009.


Mutation In HSF4 Is Associated With Hereditary Cataract In The Australian Shepherd. Mellersh C, McLaughlin B, Ahonen S, Pettitt L, Lohi H and Barnett K. Vet Opht, 12(6):372-8, 2009.


MHC class II polymorphism is associated with a canine SLE-related disease complex. Wilbe M, Jokinen P, Hermanrud C, Kennedy LJ, Strandberg E, Hansson-Hamlin H, Lohi H* and Göran Andersson*. Immunogenet, 61(8):557-64, 2009.


Ancestral T-box mutation is present in many but not all short-tailed dog breeds. Hytönen MK*, Grall A*, Hédan B, Dréano S, Seguin SJ, Delattre D, Thomas A, Galibert F, Paulin L, Lohi H, Sainio K and André C.J Hered 2009:100(2):236–240.


2008 ja aiemmat:


A mutation in hairless dogs implicates FOXI3 in ectodermal development. Drögemüller C, Karlsson EK, Hytönen MK, Perloski M, Dolf G, Sainio K, Lohi H, Lindblad-Toh K & Leeb T. Science 321(5895):1462, 2008.


Risk of Anal Furunculosis in German Shepherd dogs is associated with the Major Histocompatibility Complex. Kennedy LJ, O’Neill T, House A, Barnes A, Kyöstilä K, Innes J, Fretwell N, Day MJ, Catchpole B, Lohi H and Ollier WER., Tissue Antigens, 71(1):51-6, 2008.


The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu M, Wilson C, Lahtinen U, Anttonen A-K, Lehesjoki A-E. Am J Hum Genet, 81(1):136-46, 2007.  


Benign Familial Juvenile Epilepsy in Lagotto Romagnolo Dogs. Jokinen T, Metsahonkala L, Bergamasco L-A, Viitmaa R, Syrja P, Lohi H, Snellman M, Jeserevics J, and Cizinauskas S., J Vet Int Med, 21(3):464-71, 2007.


Expanded repeat in canine epilepsy. Lohi H, Young EJ , Fitzmaurice S, Rusbridge C, Chan, Vervoort M, Turnbull J, Ianzano L, Paterson AD, Sutter N, Ostrander EA, Andre C, Shelton DG, Ackerley CA, Scherer SW, Minassian BA. (2005) Science, 307:81.