20142020

Research output per year

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Personal profile

Fields of Science

  • 1184 Genetics, developmental biology, physiology
  • 413 Veterinary science
  • 3125 Otorhinolaryngology, ophthalmology

International and National Collaboration Publications and projects within past five years.

Publications

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
File

Precision medicine validation: identifying the MYBPC3 A31P variant with whole-genome sequencing in two Maine Coon cats with hypertrophic cardiomyopathy

99 Lives Consortium, Ontiveros, E. S., Hytonen, M. K. & Kaukonen, M., Dec 2019, In : Journal of Feline Medicine and Surgery. 21, 12, p. 1086-1093 8 p.

Research output: Contribution to journalArticleScientificpeer-review

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
File

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

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
File

Activities

  • 4 Organisation and participation in conferences, workshops, courses, seminars

Association for Research in Vision and Ophthalmology (ARVO)

Maria Kaukonen (Poster Presentation)
29 Apr 20184 May 2018

Activity: Participating in or organising an event typesOrganisation and participation in conferences, workshops, courses, seminars

8th International Conference on Advances in Canine and Feline Genomics and Inherited Disease

Maria Kaukonen (Poster Presentation)
22 Jun 201526 Jun 2015

Activity: Participating in or organising an event typesOrganisation and participation in conferences, workshops, courses, seminars

Association for Research in Vision and Ophthalmology -järjestön vuosittainen konferenssi

Maria Kaukonen (Poster Presentation)
4 May 20148 May 2014

Activity: Participating in or organising an event typesOrganisation and participation in conferences, workshops, courses, seminars

Genes, epigenetic and evolution in eye development and disease -konferenssi

Maria Kaukonen (Poster Presentation)
28 Sep 20141 Oct 2015

Activity: Participating in or organising an event typesOrganisation and participation in conferences, workshops, courses, seminars