Publications

Machine learning-based gait classification and genome-wide association identify a QTL for gait type in Colombian paso horses

Novoa-Bravo, Miguel; Meadows, Jennifer R. S.; Serra-Braganca, Filipe; van de Vall, Britt et al.

Part of iScience, 2026

• DOI for Machine learning-based gait classification and genome-wide association identify a QTL for gait type in Colombian paso horses
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Interpreting mammalian synonymous site conservation in light of the unwanted transcript hypothesis

Christmas, Matthew; Dong, Michael X.; Meadows, Jennifer R. S.; Kozyrev, Sergey V. et al.

Part of Nature Communications, 2025

• DOI for Interpreting mammalian synonymous site conservation in light of the unwanted transcript hypothesis
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An endothelial regulatory module links blood pressure regulation with elite athletic performance

Fegraeus, Kim; Rosengren, Maria K.; Naboulsi, Rakan; Orlando, Ludovic et al.

Part of PLOS Genetics, 2024

• DOI for An endothelial regulatory module links blood pressure regulation with elite athletic performance
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Characterization of Nuclear Mitochondrial Insertions in Canine Genome Assemblies

Schall, Peter Z.; Meadows, Jennifer R. S.; Ramos-Almodovar, Fabian; Kidd, Jeffrey M.

Part of Genes, 2024

• DOI for Characterization of Nuclear Mitochondrial Insertions in Canine Genome Assemblies
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Effect of an endothelial regulatory module on plasma proteomics in exercising horses

Roudbar, Mahmoud Amiri; Rosengren, Maria K.; Mousavi, Seyedeh Fatemeh; Fegraeus, Kim et al.

Part of Comparative Biochemistry and Physiology - Part D, 2024

• DOI for Effect of an endothelial regulatory module on plasma proteomics in exercising horses

The HLA region in ANCA-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population

Lundtoft, Christian; Knight, Ann; Meadows, Jennifer; Karlsson, Åsa et al.

Part of RMD Open, 2024

• DOI for The HLA region in ANCA-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population
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Bayesian mixed model analysis uncovered 21 risk loci for chronic kidney disease in boxer dogs

Lingaas, Frode; Tengvall, Katarina; Jansen, Johan Hogset; Pelander, Lena et al.

Part of PLOS Genetics, 2023

• DOI for Bayesian mixed model analysis uncovered 21 risk loci for chronic kidney disease in boxer dogs
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Evolutionary constraint and innovation across hundreds of placental mammals

Christmas, Matthew; Kaplow, Irene M.; Genereux, Diane P.; Dong, Michael X. et al.

Part of Science, 2023

• DOI for Evolutionary constraint and innovation across hundreds of placental mammals

Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture

Meadows, Jennifer; Kidd, Jeffrey M.; Wang, Guo-Dong; Parker, Heidi G. et al.

Part of Genome Biology, 2023

• DOI for Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture
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Leveraging base-pair mammalian constraint to understand genetic variation and human disease

Sullivan, Patrick F.; Meadows, Jennifer; Gazal, Steven; Phan, BaDoi N. et al.

Part of Science, p. 367-+, 2023

• DOI for Leveraging base-pair mammalian constraint to understand genetic variation and human disease

Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs

Rohdin, Cecilia; Wang, Chao; Brander, Gustaf; Rondahl, Veronica et al.

Part of Journal of Veterinary Internal Medicine, p. 1507-1513, 2023

• DOI for Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs
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Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease

Lundtoft, Christian; Eriksson, Daniel; Bianchi, Matteo; Aranda-Guillen, Maribel et al.

Part of European Journal of Endocrinology, p. 235-241, 2023

• DOI for Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease
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Allele frequency spectrum of known ankylosing spondylitis associated variants in a Swedish population

Mathioudaki, Argyri; Nordin, Jessika; Kastbom, A.; Söderkvist, P. et al.

Part of Scandinavian Journal of Rheumatology, p. 21-24, 2022

• DOI for Allele frequency spectrum of known ankylosing spondylitis associated variants in a Swedish population
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Bayesian model and selection signature analyses reveal risk factors for canine atopic dermatitis

Tengvall, Katarina; Sundström, Elisabeth; Wang, Chao; Bergvall, Kerstin et al.

Part of Communications Biology, 2022

• DOI for Bayesian model and selection signature analyses reveal risk factors for canine atopic dermatitis
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Contribution of rare genetic variation to disease susceptibility in a large Scandinavian myositis cohort

Bianchi, Matteo; Kozyrev, Sergey V.; Notarnicola, Antonella; Hultin-Rosenberg, Lina et al.

Part of Arthritis & Rheumatology, p. 342-352, 2022

• DOI for Contribution of rare genetic variation to disease susceptibility in a large Scandinavian myositis cohort
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Identification and Functional Characterization of a Novel Susceptibility Locus for Small Vessel Vasculitis with MPO-ANCA

Dahlqvist, Johanna; Ekman, Diana; Sennblad, Bengt; Kozyrev, Sergey V. et al.

Part of Rheumatology, p. 3461-3470, 2022

• DOI for Identification and Functional Characterization of a Novel Susceptibility Locus for Small Vessel Vasculitis with MPO-ANCA
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Interpretable machine learning identifies paediatric Systemic Lupus Erythematosus subtypes based on gene expression data

Yones, Sara A.; Annett, Alva; Stoll, Patricia; Diamanti, Klev et al.

Part of Scientific Reports, 2022

• DOI for Interpretable machine learning identifies paediatric Systemic Lupus Erythematosus subtypes based on gene expression data

A novel canine reference genome resolves genomic architecture and uncovers transcript complexity

Wang, Chao; Wallerman, Ola; Arendt, Maja-Louise; Sundström, Elisabeth et al.

Part of Communications Biology, 2021

• DOI for A novel canine reference genome resolves genomic architecture and uncovers transcript complexity
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Association of Protective HLA-A With HLA-B∗27 Positive Ankylosing Spondylitis

Nordin, Jessika; Pettersson, Mats; Hultin Rosenberg, Lina; Mathioudaki, Argyri et al.

Part of Frontiers in Genetics, 2021

• DOI for Association of Protective HLA-A With HLA-B∗27 Positive Ankylosing Spondylitis
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Genetic and clinical basis for two distinct subtypes of primary Sjögren's syndrome

Thorlacius, Guðný Ella; Hultin-Rosenberg, Lina; Sandling, Johanna K.; Bianchi, Matteo et al.

Part of Rheumatology, p. 837-848, 2021

• DOI for Genetic and clinical basis for two distinct subtypes of primary Sjögren's syndrome
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The ABCC4 gene is associated with pyometra in golden retriever dogs

Arendt, Maja Louise; Ambrosen, Aime; Fall, Tove; Kierczak, Marcin et al.

Part of Scientific Reports, 2021

• DOI for The ABCC4 gene is associated with pyometra in golden retriever dogs
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A comparative genomics multitool for scientific discovery and conservation

Genereux, Diane P.; Serres, Aitor; Armstrong, Joel; Johnson, Jeremy et al.

Part of Nature, p. 240-245, 2020

• DOI for A comparative genomics multitool for scientific discovery and conservation
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Comparative host-coronavirus protein interaction networks reveal pan-viral disease mechanisms

Gordon, David E.; Krogan, Nevan J.

Part of Science, 2020

• DOI for Comparative host-coronavirus protein interaction networks reveal pan-viral disease mechanisms
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SweHLA: the high confidence HLA typing bio-resource drawn from 1000 Swedish genomes

Nordin, Jessika; Ameur, Adam; Lindblad-Toh, Kerstin; Gyllensten, Ulf et al.

Part of European Journal of Human Genetics, p. 627-635, 2020

• DOI for SweHLA: the high confidence HLA typing bio-resource drawn from 1000 Swedish genomes
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Targeted sequencing reveals the somatic mutation landscape in a Swedish breast cancer cohort

Mathioudaki, Argyri; Ljungström, Viktor; Melin, Malin; Arendt, Maja Louise et al.

Part of Scientific Reports, 2020

• DOI for Targeted sequencing reveals the somatic mutation landscape in a Swedish breast cancer cohort
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A potential regulatory region near the EDN3 gene may control both harness racing performance and coat color variation in horses

Fegraeus, Kim Jaederkvist; Velie, Brandon D.; Axelsson, Jeanette; Ang, Rachel et al.

Part of Physiological Reports, 2018

• DOI for A potential regulatory region near the EDN3 gene may control both harness racing performance and coat color variation in horses
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Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden

Eriksson, Daniel; Bianchi, Matteo; Landegren, Nils; Dalin, Frida et al.

Part of Scientific Reports, 2018

• DOI for Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden
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SETD2 Is Recurrently Mutated in Whole-Exome Sequenced Canine Osteosarcoma

Sakthikumar, Sharadha; Elvers, Ingegerd; Kim, Jaegil; Arendt, Maja Louise et al.

Part of Cancer Research, p. 3421-3431, 2018

• DOI for SETD2 Is Recurrently Mutated in Whole-Exome Sequenced Canine Osteosarcoma

Dissecting evolution and disease using comparative vertebrate genomics

Meadows, Jennifer; Lindblad-Toh, Kerstin

Part of Nature reviews genetics, p. 624-636, 2017

• DOI for Dissecting evolution and disease using comparative vertebrate genomics

Long-term follow-up in primary Sjögren's syndrome reveals differences in clinical presentation between female and male patients

Sepulveda, Jorge I. Ramirez; Kvarnstrom, Marika; Eriksson, Per; Mandl, Thomas et al.

Part of Biology of Sex Differences, 2017

• DOI for Long-term follow-up in primary Sjögren's syndrome reveals differences in clinical presentation between female and male patients
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Absolute quantification reveals the stable transmission of a high copy number variant linked to autoinflammatory disease

Olsson, M.; Kierczak, Marcin; Karlsson, Åsa; Jablonska, Jagoda et al.

Part of BMC Genomics, 2016

• DOI for Absolute quantification reveals the stable transmission of a high copy number variant linked to autoinflammatory disease
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Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease

Eriksson, D.; Bianchi, Matteo; Landegren, Nils; Nordin, Jessika et al.

Part of Journal of Internal Medicine, p. 595-608, 2016

• DOI for Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease
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cgmisc: Enhanced Genome-wide Association Analyses and Visualisation

Kierczak, Marcin; Jablonska, Jagoda; Forsberg, S. K.; Bianchi, Matteo et al.

Part of Bioinformatics, p. 3830-3831, 2015

• DOI for cgmisc: Enhanced Genome-wide Association Analyses and Visualisation
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A Simple Repeat Polymorphism in the MITF-M Promoter Is a Key Regulator of White Spotting in Dogs

Baranowska Körberg, Izabella; Sundström, Elisabeth; Meadows, Jennifer R. S.; Pielberg, Gerli Rosengren et al.

Part of PLOS ONE, 2014

• DOI for A Simple Repeat Polymorphism in the MITF-M Promoter Is a Key Regulator of White Spotting in Dogs
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A universal genomic coordinate translator for comparative genomics

Zamani, Neda; Sundström, Görel; Meadows, Jennifer R. S.; Höppner, Marc P. et al.

Part of BMC Bioinformatics, p. 227, 2014

• DOI for A universal genomic coordinate translator for comparative genomics
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An Improved Canine Genome and a Comprehensive Catalogue of Coding Genes and Non-Coding Transcripts

Höppner, Marc P.; Lundquist, Andrew; Pirun, Mono; Meadows, Jennifer R. S. et al.

Part of PLOS ONE, 2014

• DOI for An Improved Canine Genome and a Comprehensive Catalogue of Coding Genes and Non-Coding Transcripts
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Sheep: Domestication

Meadows, Jennifer

Part of Encyclopedia of Global Archaeology, p. 6597-6600, Springer, 2014

• DOI for Sheep: Domestication

Thorough investigation of a canine autoinflammatory disease (AID) syndrome confirms one main risk factor and suggests a modifier locus for amyloidosis

Olsson, Mia; Tintle, Linda; Kierczak, Marcin; Perloski, Michele et al.

Part of PLOS ONE, 2013

• DOI for Thorough investigation of a canine autoinflammatory disease (AID) syndrome confirms one main risk factor and suggests a modifier locus for amyloidosis
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Unsupervised genome-wide recognition of local relationship patterns

Zamani, Neda; Russell, Pamela; Lantz, Henrik; Hoeppner, Marc et al.

Part of BMC Genomics, p. 347, 2013

• DOI for Unsupervised genome-wide recognition of local relationship patterns
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The same ELA class II risk factors confer equine insect bite hypersensitivity in two distinct populations

Andersson, Lisa S.; Swinbune, June E.; Meadows, Jennifer R. S.; Brostrom, Hans et al.

Part of Immunogenetics, p. 201-208, 2012

• DOI for The same ELA class II risk factors confer equine insect bite hypersensitivity in two distinct populations

A Novel Unstable Duplication Upstream of HAS2 Predisposes to a Breed-Defining Skin Phenotype and a Periodic Fever Syndrome in Chinese Shar-Pei Dogs

Olsson, Mia; Meadows, Jennifer R. S.; Truve, Katarina; Pielberg, Gerli Rosengren et al.

Part of PLoS Genetics, 2011

• DOI for A Novel Unstable Duplication Upstream of HAS2 Predisposes to a Breed-Defining Skin Phenotype and a Periodic Fever Syndrome in Chinese Shar-Pei Dogs

Haplogroup relationships between domestic and wild sheep resolved using a mitogenome panel

Meadows, J R S; Hiendleder, S; Kijas, J W

Part of Heredity, p. 700-706, 2011

• DOI for Haplogroup relationships between domestic and wild sheep resolved using a mitogenome panel

Whole genome resequencing reveals loci under selection during chicken domestication

Rubin, Carl-Johan; Zody, Michael C.; Eriksson, Jonas; Meadows, Jennifer et al.

Part of Nature, p. 587-591, 2010

• DOI for Whole genome resequencing reveals loci under selection during chicken domestication

Copy number variation in intron 1 of SOX5 causes the Pea-comb phenotype in chickens

Wright, Dominic; Boije, Henrik; Meadows, Jennifer; Bed'hom, Bertrand et al.

Part of PLoS Genetics, 2009

• DOI for Copy number variation in intron 1 of SOX5 causes the Pea-comb phenotype in chickens