• PL 63 (Haartmaninkatu 8), 4023

    HELSINGIN YLIOPISTO

    Finland

  • PL 66 (Agnes Sjöbergin katu 2)

    00014

    Finland

  • Viikinkaari 5, Biocenter 2

    00790 Helsinki

    Finland

  • Finland

19992020

Research output per year

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Publications

2020

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, M. M., Gailbreath, K. L., Cannon, A., Linek, M., Banovic, F., Olivry, T., White, S. D., Batcher, K., Bannasch, D., Minor, K. M., Mickelson, J. R., Hytönen, M. K., Lohi, H., Mauldin, E. A. & 1 others, Casal, M. L., Feb 2020, In : Genes. 11, 2, 10 p., 159.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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A putative silencer variant in a spontaneous canine model of retinitis pigmentosa

Kaukonen, M., Quintero, I. B., Mukarram, A. K., Hytönen, M. K., Holopainen, S., Wickström, K., Kyöstilä, K., Arumilli, M., Jalomäki, S., Daub, C. O., Kere, J., Lohi, H. & Consortium, T. DA., 9 Mar 2020, In : PLoS Genetics. 16, 3, 20 p., 1008659.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Assessment of databases to determine the validity of beta- and gamma-carbonic anhydrase sequences from vertebrates

Emameh, R. Z., Kuuslahti, M., Nosrati, H., Lohi, H. & Parkkila, S., 11 May 2020, In : BMC Genomics. 21, 1, 8 p., 352.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs

Jenkins, C. A., Kalmar, L., Matiasek, K., Mari, L., Kyöstilä, K., Lohi, H., Schofield, E. C., Mellersh, C. S., De Risio, L. & Ricketts, S. L., 30 Jan 2020, In : PLoS Genetics. 16, 1, 20 p., 1008527.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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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., 5 Mar 2020, In : Scientific Reports. 10, 1, 11 p., 2962.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs

Dillard, K. J., Ochs, M., Niskanen, J. E., Arumilli, M., Donner, J., Kyöstilä, K., Hytönen, M. K., Anttila, M. & Lohi, H., 9 Mar 2020, In : PLoS Genetics. 16, 3, 19 p., 1008651.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Ventricular arrhythmia and sudden cardiac death in young Leonbergers

Wiberg, M., Niskanen, J. E., Hytönen, M., Dillard, K., Hagner, K., Anttila, M. & Lohi, H., Feb 2020, In : Journal of Veterinary Cardiology. 27, p. 10-22 13 p.

Research output: Contribution to journalArticleScientificpeer-review

webGQT: A Shiny Server for Genotype Query Tools for Model-Based Variant Filtering

Arumilli, M., Layer, R. M., Hytönen, M. K. & Lohi, H., 3 Mar 2020, In : Frontiers in Genetics. 11, 9 p., 152.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Whole Genome Sequencing Indicates Heterogeneity of Hyperostotic Disorders in Dogs

Letko, A., Leuthard, F., Jagannathan, V., Corlazzoli, D., Matiasek, K., Schweizer, D., Hytönen, M. K., Lohi, H., Leeb, T. & Droegemueller, C., Feb 2020, In : Genes. 11, 2, 12 p., 163.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2019

A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions

Hytönen, M. K. & Lohi, H., May 2019, In : Human Genetics. 138, 5, p. 535-539 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia

Kyöstilä, K., Syrjä, P., Lappalainen, A. K., Arumilli, M., Hundi, S., Karkamo, V., Viitmaa, R., Hytönen, M. K. & Lohi, H., 30 Jan 2019, In : Scientific Reports. 9, 11 p., 973.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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A novel KRT71 variant in curly-coated dogs

Salmela, E., Niskanen, J., Arumilli, M., Donner, J., Lohi, H. & Hytönen, M. K., Feb 2019, In : Animal Genetics. 50, 1, p. 101-104 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Association between dog ownership and type 2 diabetes in later life: the Helsinki birth cohort study

Laine, M. K., Wasenius, N. S., Lohi, H., Simonen, M., Tiira, K., Eriksson, J. G. & Salonen, M. K., 1 Jan 2019, In : International Journal of Circumpolar Health. 78, 1, 6 p., 1611328.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Breed differences of heritable behaviour traits in cats

Salonen, M., Vapalahti, K., Tiira, K., Maki-Tanila, A. & Lohi, H., 28 May 2019, In : Scientific Reports. 9, 10 p., 7949.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Breed-specific reference ranges for standard echocardiographic measurements in salukis

Giraut, S., Häggström, J., Koskinen, L. L. E., Lohi, H. & Wiberg, M., Jun 2019, In : Journal of Small Animal Practice. 60, 6, p. 374-378 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants

Hytönen, M. K., Arumilli, M., Sarkiala, E., Nieminen, P. & Lohi, H., May 2019, In : Human Genetics. 138, 5, p. 525-533 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Clinical, metabolic, and genetic characterization of hereditary methemoglobinemia caused by cytochrome b(5) reductase deficiency in cats

99 Lives Cat Genome Consortium, Jaffey, J. A., Reading, N. S., Giger, U., Abdulmalik, O., Buckley, R. M., Johnstone, S., Lyons, L. A. & Lohi, H., Nov 2019, In : Journal of Veterinary Internal Medicine. 33, 6, p. 2725-2731 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Open Access
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NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia

Anderegg, L., Im Hof Gut, M., Hetzel, U., Howerth, E. W., Leuthard, F., Kyöstilä, K., Lohi, H., Pettitt, L., Mellersh, C., Minor, K. M., Mickelson, J. R., Batcher, K., Bannasch, D., Jagannathan, V. & Leeb, T., 3 Sep 2019, In : PLoS Genetics. 15, 9, 16 p., 1008378.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Novel Locus Associated with Symmetrical Lupoid Onychodystrophy in the Bearded Collie

Gershony, L. C., Belanger, J. M., Hytönen, M. K., Lohi, H. & Oberbauer, A. M., Sep 2019, In : Genes. 10, 9, 12 p., 635.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Novel protective and risk loci in hip dysplasia in German Shepherds

Mikkola, L., Holopainen, S., Lappalainen, A., Pessa-Morikawa, T., Pulikotial Augustine, T., Arumilli, M., Hytönen, M. K., Hakosalo, O. T. V., Lohi, H. & Iivanainen, A., 19 Jul 2019, In : PLoS Genetics. 15, 7, 30 p., 1008197.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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TSEN54 missense variant in Standard Schnauzers with leukodystrophy

Störk, T., Nessler, J., Anderegg, L., Huenerfauth, E., Schmutz, I., Jagannathan, V., Kyöstilä, K., Lohi, H., Baumgaertner, W., Tipold, A. & Leeb, T., Oct 2019, In : PLoS Genetics. 15, 10, 21 p., 1008411.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Two novel genomic regions associated with fearfulness in dogs overlap human neuropsychiatric loci

Sarviaho, R., Hakosalo, O. T. V., Tiira, K., Sulkama, S., Salmela, E., Hytönen, M. K., Sillanpää, M. & Lohi, H., 2019, In : Translational Psychiatry. 9, 18, 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration

Hitti, R. J., Oliver, J. A. C., Schofield, E. C., Bauer, A., Kaukonen, M., Forman, O. P., Leeb, T., Lohi, H., Burmeister, L. M., Sargan, D. & Mellersh, C. S., May 2019, In : Genes. 10, 5, 17 p., 385.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2018

Absence Seizures as a Feature of Juvenile Myoclonic Epilepsy in Rhodesian Ridgeback Dogs

Wielaender, F., James, F. M. K., Cortez, M. A., Kluger, G., Nessler, J. N., Tipold, A., Lohi, H. & Fischer, A., 2018, In : Journal of Veterinary Internal Medicine. 32, 1, p. 428-432 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Applications and efficiencies of the first cat 63K DNA array

Gandolfi, B., Alhaddad, H., Abdi, M., Bach, L. H., Creighton, E. K., Davis, B. W., Decker, J. E., Dodman, N. H., Grahn, J. C., Grahn, R. A., Haase, B., Haggstrom, J., Hamilton, M. J., Helps, C. R., Kurushima, J. D., Lohi, H., Longeri, M., Malik, R., Meurs, K. M., Montague, M. J. & 11 others, Mullikin, J. C., Murphy, W. J., Nilson, S. M., Pedersen, N. C., Peterson, C. B., Rusbridge, C., Saif, R., Shelton, G. D., Warren, W. C., Wasim, M. & Lyons, L. A., 4 May 2018, In : Scientific Reports. 8, 15 p., 7024.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs

Holden, L. A., Arumilli, M., Hytonen, M. K., Hundi, S., Salojärvi, J., Brown, K. H. & Lohi, H., 18 Jul 2018, In : Scientific Reports. 8, 11 p., 10862.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Clinical and Genetic Characterization of Canine Vitreous Degeneration

Kaukonen, M. & Lohi, H., Jul 2018, In : Investigative Ophthalmology & Visual Science. 59, 9, 2 p., 6042.

Research output: Contribution to journalMeeting AbstractResearchpeer-review

Open Access

Dog Ownership from a Life Course Perspective and Leisure-time Physical Activity in Late Adulthood: The Helsinki Birth Cohort Study

Wasenius, N. S., Laine, M. K., Savola, S., Simonen, M., Tiira, K., Lohi, H., Eriksson, J. G. & Salonen, M. K., Nov 2018, In : American Journal of Health Behavior. 42, 6, p. 11-18 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Fearful dogs have increased plasma glutamine and gamma-glutamyl glutamine

Puurunen, J., Tiira, K., Vapalahti, K., Lehtonen, M., Hanhineva, K. & Lohi, H., 29 Oct 2018, In : Scientific Reports. 8, 12 p., 15976.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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First genome-wide CNV mapping in FELIS CATUS using next generation sequencing data

99Lives Consortium, Genova, F. & Lohi, H., 10 Dec 2018, In : BMC Genomics. 19, 13 p., 895.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs

Donner, J., Anderson, H., Davison, S., Hughes, A. M., Bouirmane, J., Lindqvist, J., Lytle, K. M., Ganesan, B., Ottka, C., Ruotanen, P., Kaukonen, M., Forman, O. P., Fretwell, N., Cole, C. A. & Lohi, H., Apr 2018, In : PLoS Genetics. 14, 4, 20 p., 1007361.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Interbreed variation in serum serotonin (5-hydroxytryptamine) concentration in updates healthy dogs

Höglund, K., Häggström, J., Hanås, S., Merveille, A. -C., Gouni, V., Wiberg, M., Willesen, J. L., Mc Entee, K., Sorensen, L. M., Tiret, L., Seppälä, E. H., Lohi, H., Chetboul, V., Fredholm, M., Lequarre, A. -S. & Ljungvall, I., Aug 2018, In : Journal of Veterinary Cardiology. 20, 4, p. 244-253 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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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., Willesen, J. L., Hanas, S., McEntee, K., Tiret, L., Häggström, J., Lohi, H., Chetboul, V., Fredholm, M., Seppälä, E. H., Lequarre, A-S. & Merveille, A-C., Dec 2018, In : Veterinary Clinical Pathology. 47, 4, p. 582-588 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease

Kaukonen, M., Woods, S., Ahonen, S., Lemberg, S., Hellman, M., Hytönen, M. K., Permi, P., Glaser, T. & Lohi, H., 29 May 2018, In : Cell Reports. 23, 9, p. 2643-2652 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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MKLN1 splicing defect in dogs with lethal acrodermatitis

Bauer, A., Jagannathan, V., Hoegler, S., Richter, B., McEwan, N. A., Thomas, A., Cadieu, E., Andre, C., Hytonen, M. K., Lohi, H., Welle, M. M., Roosje, P., Mellersh, C., Casal, M. L. & Leeb, T., Mar 2018, In : PLoS Genetics. 14, 3, 14 p., 1007264.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Myotonia congenita in a Labrador Retriever with truncated CLCN1

Quitt, P. R., Hytönen, M. K., Matiasek, K., Rosati, M., Fischer, A. & Lohi, H., Jul 2018, In : Neuromuscular Disorders. 28, 7, p. 597-605 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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The Endo-Lysosomal System of Brain Endothelial Cells Is Influenced by Astrocytes In Vitro

Toth, A. E., Siupka, P., Augustine, T. J. P., Veno, S. T., Thomsen, L. B., Moos, T., Lohi, H. T., Madsen, P., Lykke-Hartmann, K. & Nielsen, M. S., Nov 2018, In : Molecular Neurobiology. 55, 11, p. 8522-8537 16 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies

Dürig, N., Letko, A., Lepori, V., Rasouliha, S. H., Loechel, R., Kehl, A., Hytönen, M. K., Lohi, H., Mauri, N., Dietrich, J., Wiedmer, M., Drogemuller, M., Jagannathan, V., Schmutz, S. M. & Leeb, T., Aug 2018, In : Animal Genetics. 49, 4, p. 284-290 7 p.

Research output: Contribution to journalArticleScientificpeer-review

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., 25 Jan 2018, In : Scientific Reports. 8, 9 p., 1585.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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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, C. E., Kaukonen, M. K., Mascord, L. J., Lohi, H. T. & Wade, C. M., Jul 2017, In : G3 - Genes genomes genetics. 7, 7, p. 2327-2335 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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ADAM23 is a common risk gene for canine idiopathic epilepsy

Koskinen, L. L. E., Seppala, E. H., Weissl, J., Jokinen, T. S., Viitmaa, R., Hanninen, R. L., Quignon, P., Fischer, A., Andre, C. & Lohi, H., 31 Jan 2017, In : BMC Genetics. 18, 5 p., 8.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats

99 Lives Consortium, Feb 2017, In : Mammalian Genome. 28, 1-2, p. 47-55 9 p.

Research output: Contribution to journalArticleScientificpeer-review

AncesTrim – a tool for trimming complex pedigrees

Niskanen, J. E., Salmela, E. T. & Lohi, H. T., 2017, In : Journal of open source software. 2, 11, 170.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs

Everson, R., Pettitt, L., Forman, O. P., Dower-Tylee, O., McLaughlin, B., Ahonen, S., Kaukonen, M., Komaromy, A. M., Lohi, H., Mellersh, C. S., Sansom, J. & Ricketts, S. L., 16 Aug 2017, In : PLoS One. 12, 8, 14 p., 0183021.

Research output: Contribution to journalArticleScientificpeer-review

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ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs

Holopainen, S., Hytonen, M. K., Syrja, P., Arumilli, M., Jarvinen, A-K., Rajamaki, M. & Lohi, H., Feb 2017, In : PLoS Genetics. 13, 2, 12 p., 1006625.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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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., Apr 2017, In : European Journal of Neurology. 24, 4, p. 572-577 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Basal Autophagy is altered in Lagotto Romagnolo Dogs with an ATG4D mutation

Syrjä, P., Anwar, T., Pääkkönen, T., Kyöstilä, K., Hultin Jäderlund, K., Cozzi, F., Rohdin, C., Hahn, K., Wohlsein, P., Baumgärtner, W., Henke, D., Oevermann, A., Sukura, A., Leeb, T., Lohi, H. & Eskelinen, E-L., Nov 2017, In : Veterinary Pathology. 54, 6, p. 953-963 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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