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Exonic Short Interspersed Nuclear Element Insertion in FAM161A Is Associated with Autosomal Recessive Progressive Retinal Atrophy in the English Shepherd.

Autor: Stanbury K; Canine Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge CB3 0ES, UK., Schofield EC; Canine Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge CB3 0ES, UK., McLaughlin B; Canine Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge CB3 0ES, UK., Forman OP; Wisdom Panel, Mars Petcare (Science and Diagnostics Division), Freeby Lane, Waltham on the Wolds, Leicestershire LE14 4RS, UK., Mellersh CS; Canine Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge CB3 0ES, UK.

Publikováno v: Genes [Genes (Basel)] 2024 Jul 20; Vol. 15 (7). Date of Electronic Publication: 2024 Jul 20.

A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia.

Autor: Heinonen T; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Center, Helsinki, Finland.; Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland., Flegel T; Department of Small Animals, Leipzig University, Leipzig, Germany., Müller H; Tieraerztliches Fachzentrum Muehlhausen Dr. Ortmann & Dr. Stief, Muehlhausen/Thueringen, Germany., Kehl A; Laboklin GmbH&CO.KG, Bad Kissingen, Germany., Hundi S; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Center, Helsinki, Finland.; Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland., Matiasek K; Section of Clinical and Comparative Neuropathology, Institute of Veterinary Pathology, Centre for Clinical Veterinary Medicine, LMU Munich, Munich, Germany., Fischer A; Clinic of Small Animal Medicine, Centre for Clinical Veterinary Medicine, LMU Munich, Munich, Germany., Donner J; Wisdom Panel Research Team, Wisdom Panel, Kinship, Helsinki, Finland., Forman OP; Wisdom Panel Research Team, Wisdom Panel, Kinship, Leicestershire, UK., Lohi H; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland. Hannes.lohi@helsinki.fi.; Folkhälsan Research Center, Helsinki, Finland. Hannes.lohi@helsinki.fi.; Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland. Hannes.lohi@helsinki.fi., Hytönen MK; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland. Marjo.hytonen@helsinki.fi.; Folkhälsan Research Center, Helsinki, Finland. Marjo.hytonen@helsinki.fi.; Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland. Marjo.hytonen@helsinki.fi.

Publikováno v: Human genetics [Hum Genet] 2023 Aug; Vol. 142 (8), pp. 1221-1230. Date of Electronic Publication: 2023 May 24.

Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats.

Autor: Anderson H; Wisdom Panel Research Team, Wisdom Panel, Kinship, Portland, Oregon, United States of America., Davison S; Wisdom Panel Research Team, Wisdom Panel, Kinship, Portland, Oregon, United States of America., Lytle KM; Wisdom Panel Research Team, Wisdom Panel, Kinship, Portland, Oregon, United States of America., Honkanen L; Wisdom Panel Research Team, Wisdom Panel, Kinship, Portland, Oregon, United States of America., Freyer J; Wisdom Panel Research Team, Wisdom Panel, Kinship, Portland, Oregon, United States of America., Mathlin J; Wisdom Panel Research Team, Wisdom Panel, Kinship, Portland, Oregon, United States of America., Kyöstilä K; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.; Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Center, Helsinki, Finland., Inman L; Wisdom Panel Research Team, Wisdom Panel, Kinship, Portland, Oregon, United States of America., Louviere A; Wisdom Panel Research Team, Wisdom Panel, Kinship, Portland, Oregon, United States of America., Chodroff Foran R; Wisdom Panel Research Team, Wisdom Panel, Kinship, Portland, Oregon, United States of America., Forman OP; Wisdom Panel Research Team, Wisdom Panel, Kinship, Portland, Oregon, United States of America., Lohi H; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.; Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Center, Helsinki, Finland., Donner J; Wisdom Panel Research Team, Wisdom Panel, Kinship, Portland, Oregon, United States of America.

Publikováno v: PLoS genetics [PLoS Genet] 2022 Jun 16; Vol. 18 (6), pp. e1009804. Date of Electronic Publication: 2022 Jun 16 (Print Publication: 2022).

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

Autor: Hitti RJ; Kennel Club Genetics Centre, Animal Health Trust, Lanwades Park, Newmarket, Suffolk CB8 7UU, UK. rebekkah.hitti@aht.org.uk.; Department of Veterinary Medicine, University of Cambridge, Cambridge CB3 0ES, UK. rebekkah.hitti@aht.org.uk., Oliver JAC; Kennel Club Genetics Centre, Animal Health Trust, Lanwades Park, Newmarket, Suffolk CB8 7UU, UK. jo@dwr.co.uk., Schofield EC; Kennel Club Genetics Centre, Animal Health Trust, Lanwades Park, Newmarket, Suffolk CB8 7UU, UK. Ellen.Schofield@aht.org.uk., Bauer A; Institute of Genetics, University of Bern, 3001 Bern, Switzerland. anina.bauer@vetsuisse.unibe.ch., Kaukonen M; Department of Veterinary Biosciences, University of Helsinki, 00014 Helsinki, Finland. maria.kaukonen@helsinki.fi.; Department of Medical Genetics, University of Helsinki, 00014 Helsinki, Finland. maria.kaukonen@helsinki.fi.; Folkhälsan Research Center, 00290 Helsinki, Finland. maria.kaukonen@helsinki.fi., Forman OP; Wisdom Health, Waltham-on-the-Wolds, Leicestershire LE14 4RS, UK. oliver.forman@effem.com., Leeb T; Institute of Genetics, University of Bern, 3001 Bern, Switzerland. tosso.leeb@vetsuisse.unibe.ch., Lohi H; Department of Veterinary Biosciences, University of Helsinki, 00014 Helsinki, Finland. Hannes.Lohi@helsinki.fi.; Department of Medical Genetics, University of Helsinki, 00014 Helsinki, Finland. Hannes.Lohi@helsinki.fi.; Folkhälsan Research Center, 00290 Helsinki, Finland. Hannes.Lohi@helsinki.fi., Burmeister LM; Kennel Club Genetics Centre, Animal Health Trust, Lanwades Park, Newmarket, Suffolk CB8 7UU, UK. Louise.Burmeister@aht.org.uk., Sargan D; Department of Veterinary Medicine, University of Cambridge, Cambridge CB3 0ES, UK. drs20@cam.ac.uk., Mellersh CS; Kennel Club Genetics Centre, Animal Health Trust, Lanwades Park, Newmarket, Suffolk CB8 7UU, UK. cathryn.mellersh@aht.org.uk.

Publikováno v: Genes [Genes (Basel)] 2019 May 21; Vol. 10 (5). Date of Electronic Publication: 2019 May 21.