Kerstin Lindblad-Toh
Professor at Department of Medical Biochemistry and Microbiology; Genetics and Genomics; Kerstin Lindblad-Toh
- Mobile phone:
- +46 70 167 95 52
- E-mail:
- kerstin.lindblad-toh@imbim.uu.se
- Visiting address:
- BMC
Husargatan 3
752 37 UPPSALA - Postal address:
- Box 582
751 23 UPPSALA
Keywords
- cancer
- medicinsk genetik
- komparativ genomik
- hundars sjukdomar

Publications
Recent publications
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Part of Scientific Reports, 2026
- DOI for A variant in RESF1 is associated with Addison's disease and multiple autoimmune syndrome in young Nova Scotia Duck Tolling Retrievers
- Download full text (pdf) of A variant in RESF1 is associated with Addison's disease and multiple autoimmune syndrome in young Nova Scotia Duck Tolling Retrievers
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Part of Neuro-Oncology Advances, 2026
- DOI for Rare germline variants contribute to glioma predisposition: Whole-genome analysis of a regional cohort of glioma patients
- Download full text (pdf) of Rare germline variants contribute to glioma predisposition: Whole-genome analysis of a regional cohort of glioma patients
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Part of Scientific Reports, 2025
- DOI for Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival
- Download full text (pdf) of Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival
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The Earth BioGenome Project Phase II: illuminating the eukaryotic tree of life
Part of Frontiers in Science, 2025
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Part of Proceedings of the National Academy of Sciences of the United States of America, 2025
- DOI for Integrating extensive functional annotations and multiomics of cattle enhances climate resilience prediction and mapping
- Download full text (pdf) of Integrating extensive functional annotations and multiomics of cattle enhances climate resilience prediction and mapping
All publications
Articles in journal
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Part of Scientific Reports, 2026
- DOI for A variant in RESF1 is associated with Addison's disease and multiple autoimmune syndrome in young Nova Scotia Duck Tolling Retrievers
- Download full text (pdf) of A variant in RESF1 is associated with Addison's disease and multiple autoimmune syndrome in young Nova Scotia Duck Tolling Retrievers
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Part of Neuro-Oncology Advances, 2026
- DOI for Rare germline variants contribute to glioma predisposition: Whole-genome analysis of a regional cohort of glioma patients
- Download full text (pdf) of Rare germline variants contribute to glioma predisposition: Whole-genome analysis of a regional cohort of glioma patients
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Part of Scientific Reports, 2025
- DOI for Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival
- Download full text (pdf) of Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival
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The Earth BioGenome Project Phase II: illuminating the eukaryotic tree of life
Part of Frontiers in Science, 2025
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Part of Proceedings of the National Academy of Sciences of the United States of America, 2025
- DOI for Integrating extensive functional annotations and multiomics of cattle enhances climate resilience prediction and mapping
- Download full text (pdf) of Integrating extensive functional annotations and multiomics of cattle enhances climate resilience prediction and mapping
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Genome Variation in Three Anthophora Bee Species Reflects Divergent Demographic Histories
Part of Molecular Ecology, 2025
- DOI for Genome Variation in Three Anthophora Bee Species Reflects Divergent Demographic Histories
- Download full text (pdf) of Genome Variation in Three Anthophora Bee Species Reflects Divergent Demographic Histories
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Part of Animal Genetics, 2025
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Genetic Adaptation to Brackish Water and Spawning Season in European Cisco
Part of Molecular Ecology, 2025
- DOI for Genetic Adaptation to Brackish Water and Spawning Season in European Cisco
- Download full text (pdf) of Genetic Adaptation to Brackish Water and Spawning Season in European Cisco
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Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder
Part of Nature Genetics, 2025
- DOI for Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder
- Download full text (pdf) of Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder
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A burden of rare copy number variants in obsessive-compulsive disorder
Part of Molecular Psychiatry, p. 1510-1517, 2025
- DOI for A burden of rare copy number variants in obsessive-compulsive disorder
- Download full text (pdf) of A burden of rare copy number variants in obsessive-compulsive disorder
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Measures of Homozygosity and Relationship to Genetic Diversity in the Bearded Collie Breed
Part of Genes, 2025
- DOI for Measures of Homozygosity and Relationship to Genetic Diversity in the Bearded Collie Breed
- Download full text (pdf) of Measures of Homozygosity and Relationship to Genetic Diversity in the Bearded Collie Breed
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Part of Arthritis & Rheumatology, p. 212-225, 2025
- DOI for Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases
- Download full text (pdf) of Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases
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Interpreting mammalian synonymous site conservation in light of the unwanted transcript hypothesis
Part of Nature Communications, 2025
- DOI for Interpreting mammalian synonymous site conservation in light of the unwanted transcript hypothesis
- Download full text (pdf) of Interpreting mammalian synonymous site conservation in light of the unwanted transcript hypothesis
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Part of Journal of Autoimmunity, 2024
- DOI for A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile
- Download full text (pdf) of A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile
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Identification of constrained sequence elements across 239 primate genomes
Part of Nature, p. 735-742, 2024
- DOI for Identification of constrained sequence elements across 239 primate genomes
- Download full text (pdf) of Identification of constrained sequence elements across 239 primate genomes
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Part of RMD Open, 2024
- DOI for The HLA region in ANCA-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population
- Download full text (pdf) of The HLA region in ANCA-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population
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Part of Scientific Reports, 2024
- DOI for Genome wide association study in Swedish Labrador retrievers identifies genetic loci associated with hip dysplasia and body weight
- Download full text (pdf) of Genome wide association study in Swedish Labrador retrievers identifies genetic loci associated with hip dysplasia and body weight
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Part of The Veterinary Record, 2024
- DOI for Assessment of glial fibrillary acidic protein and anti‐glial fibrillary acidic protein autoantibody concentrations and necrotising meningoencephalitis risk genotype in dogs with pug dog myelopathy
- Download full text (pdf) of Assessment of glial fibrillary acidic protein and anti‐glial fibrillary acidic protein autoantibody concentrations and necrotising meningoencephalitis risk genotype in dogs with pug dog myelopathy
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Part of Acta Veterinaria Scandinavica, 2024
- DOI for In sickness and health - a questionnaire based study regarding immune mediated diseases and neoplasia in Swedish Nova Scotia Duck Tolling Retrievers
- Download full text (pdf) of In sickness and health - a questionnaire based study regarding immune mediated diseases and neoplasia in Swedish Nova Scotia Duck Tolling Retrievers
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Hemangiosarcoma Cells Promote Conserved Host-derived Hematopoietic Expansion
Part of Cancer Research Communications, p. 1467-1480, 2024
- DOI for Hemangiosarcoma Cells Promote Conserved Host-derived Hematopoietic Expansion
- Download full text (pdf) of Hemangiosarcoma Cells Promote Conserved Host-derived Hematopoietic Expansion
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Part of Scientific Reports, 2024
- DOI for Elevated levels of IL-12/IL-23p40 in Nova Scotia Duck Tolling Retrievers with autoimmune disease and lymphoma
- Download full text (pdf) of Elevated levels of IL-12/IL-23p40 in Nova Scotia Duck Tolling Retrievers with autoimmune disease and lymphoma
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Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs
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
- Download full text (pdf) of Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs
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Insights into mammalian TE diversity through the curation of 248 genome assemblies
Part of Science, p. 371-+, 2023
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Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies
Part of EBioMedicine, 2023
- DOI for Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies
- Download full text (pdf) of Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies
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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
- Download full text (pdf) of 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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Bayesian mixed model analysis uncovered 21 risk loci for chronic kidney disease in boxer dogs
Part of PLOS Genetics, 2023
- DOI for Bayesian mixed model analysis uncovered 21 risk loci for chronic kidney disease in boxer dogs
- Download full text (pdf) of Bayesian mixed model analysis uncovered 21 risk loci for chronic kidney disease in boxer dogs
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Leveraging base-pair mammalian constraint to understand genetic variation and human disease
Part of Science, p. 367-+, 2023
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Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
Part of Proceedings of the National Academy of Sciences of the United States of America, 2023
- DOI for Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
- Download full text (pdf) of Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
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Three-dimensional genome rewiring in loci with human accelerated regions
Part of Science, 2023
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The functional and evolutionary impacts of human-specific deletions in conserved elements
Part of Science, 2023
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Stratified genetic analysis reveals sex differences in MPO-ANCA-associated vasculitis
Part of Rheumatology, p. 3213-3218, 2023
- DOI for Stratified genetic analysis reveals sex differences in MPO-ANCA-associated vasculitis
- Download full text (pdf) of Stratified genetic analysis reveals sex differences in MPO-ANCA-associated vasculitis
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Multiple Genetic Loci Associated with Pug Dog Thoracolumbar Myelopathy
Part of Genes, 2023
- DOI for Multiple Genetic Loci Associated with Pug Dog Thoracolumbar Myelopathy
- Download full text (pdf) of Multiple Genetic Loci Associated with Pug Dog Thoracolumbar Myelopathy
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Relating enhancer genetic variation across mammals to complex phenotypes using machine learning
Part of Science, 2023
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Comparative genomics of Balto, a famous historic dog, captures lost diversity of 1920s sled dogs
Part of Science, 2023
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Mammalian evolution of human cis-regulatory elements and transcription factor binding sites
Part of Science, 2023
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Integrating gene annotation with orthology inference at scale
Part of Science, p. 368-+, 2023
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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
- Download full text (pdf) of Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture
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Evolutionary constraint and innovation across hundreds of placental mammals
Part of Science, 2023
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Chiropterans Are a Hotspot for Horizontal Transfer of DNA Transposons in Mammalia
Part of Molecular biology and evolution, 2023
- DOI for Chiropterans Are a Hotspot for Horizontal Transfer of DNA Transposons in Mammalia
- Download full text (pdf) of Chiropterans Are a Hotspot for Horizontal Transfer of DNA Transposons in Mammalia
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A genomic timescale for placental mammal evolution
Part of Science, p. 365-+, 2023
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The contribution of historical processes to contemporary extinction risk in placental mammals
Part of Science, 2023
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PIK3CA is recurrently mutated in canine mammary tumors, similarly to in human mammary neoplasia
Part of Scientific Reports, 2023
- DOI for PIK3CA is recurrently mutated in canine mammary tumors, similarly to in human mammary neoplasia
- Download full text (pdf) of PIK3CA is recurrently mutated in canine mammary tumors, similarly to in human mammary neoplasia
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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
- Download full text (pdf) of Identification and Functional Characterization of a Novel Susceptibility Locus for Small Vessel Vasculitis with MPO-ANCA
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Part of Arthritis & Rheumatology, p. 1842-1850, 2022
- DOI for Strong Association of Combined Genetic Deficiencies in the Classical Complement Pathway With Risk of Systemic Lupus Erythematosus and Primary Sjögren's Syndrome
- Download full text (pdf) of Strong Association of Combined Genetic Deficiencies in the Classical Complement Pathway With Risk of Systemic Lupus Erythematosus and Primary Sjögren's Syndrome
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Part of Arthritis & Rheumatology, p. 1440-1450, 2022
- DOI for Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases
- Download full text (pdf) of Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases
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Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease
Part of Lupus Science and Medicine, 2022
- DOI for Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease
- Download full text (pdf) of Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease
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Part of Arthritis & Rheumatology, p. 342-352, 2022
- DOI for Contribution of rare genetic variation to disease susceptibility in a large Scandinavian myositis cohort
- Download full text (pdf) of Contribution of rare genetic variation to disease susceptibility in a large Scandinavian myositis cohort
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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
- Download full text (pdf) of Allele frequency spectrum of known ankylosing spondylitis associated variants in a Swedish population
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Evolution of the ancestral mammalian karyotype and syntenic regions
Part of Proceedings of the National Academy of Sciences of the United States of America, 2022
- DOI for Evolution of the ancestral mammalian karyotype and syntenic regions
- Download full text (pdf) of Evolution of the ancestral mammalian karyotype and syntenic regions
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Part of Communications Biology, 2022
- DOI for The Antarctic Weddell seal genome reveals evidence of selection on cardiovascular phenotype and lipid handling
- Download full text (pdf) of The Antarctic Weddell seal genome reveals evidence of selection on cardiovascular phenotype and lipid handling
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Part of Cancers, p. 276, 2022
- DOI for Canine Oral Melanoma Genomic and Transcriptomic Study Defines Two Molecular Subgroups with Different Therapeutical Targets
- Download full text (pdf) of Canine Oral Melanoma Genomic and Transcriptomic Study Defines Two Molecular Subgroups with Different Therapeutical Targets
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Part of Proceedings of the National Academy of Sciences of the United States of America, 2022
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Bayesian model and selection signature analyses reveal risk factors for canine atopic dermatitis
Part of Communications Biology, 2022
- DOI for Bayesian model and selection signature analyses reveal risk factors for canine atopic dermatitis
- Download full text (pdf) of Bayesian model and selection signature analyses reveal risk factors for canine atopic dermatitis
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Standards recommendations for the Earth BioGenome Project
Part of Proceedings of the National Academy of Sciences of the United States of America, 2022
- DOI for Standards recommendations for the Earth BioGenome Project
- Download full text (pdf) of Standards recommendations for the Earth BioGenome Project
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The Earth BioGenome Project 2020: Starting the clock
Part of Proceedings of the National Academy of Sciences of the United States of America, 2022
- DOI for The Earth BioGenome Project 2020: Starting the clock
- Download full text (pdf) of The Earth BioGenome Project 2020: Starting the clock
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Part of Annals of the Rheumatic Diseases, p. 109-117, 2021
- DOI for Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing
- Download full text (pdf) of Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing
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Genetic and clinical basis for two distinct subtypes of primary Sjögren's syndrome
Part of Rheumatology, p. 837-848, 2021
- DOI for Genetic and clinical basis for two distinct subtypes of primary Sjögren's syndrome
- Download full text (pdf) of Genetic and clinical basis for two distinct subtypes of primary Sjögren's syndrome
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Toll-like receptors revisited: a possible role for TLR1 in lupus nephritis
Part of Annals of the Rheumatic Diseases, p. 404-406, 2021
- DOI for Toll-like receptors revisited: a possible role for TLR1 in lupus nephritis
- Download full text (pdf) of Toll-like receptors revisited: a possible role for TLR1 in lupus nephritis
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Part of PLOS Genetics, 2021
- DOI for The genetic consequences of dog breed formation-Accumulation of deleterious genetic variation and fixation of mutations associated with myxomatous mitral valve disease in cavalier King Charles spaniels
- Download full text (pdf) of The genetic consequences of dog breed formation-Accumulation of deleterious genetic variation and fixation of mutations associated with myxomatous mitral valve disease in cavalier King Charles spaniels
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A novel canine reference genome resolves genomic architecture and uncovers transcript complexity
Part of Communications Biology, 2021
- DOI for A novel canine reference genome resolves genomic architecture and uncovers transcript complexity
- Download full text (pdf) of A novel canine reference genome resolves genomic architecture and uncovers transcript complexity
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The ABCC4 gene is associated with pyometra in golden retriever dogs
Part of Scientific Reports, 2021
- DOI for The ABCC4 gene is associated with pyometra in golden retriever dogs
- Download full text (pdf) of The ABCC4 gene is associated with pyometra in golden retriever dogs
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Part of Genes, 2021
- DOI for Genome-Wide Analyses for Osteosarcoma in Leonberger Dogs Reveal the CDKN2A/B Gene Locus as a Major Risk Locus
- Download full text (pdf) of Genome-Wide Analyses for Osteosarcoma in Leonberger Dogs Reveal the CDKN2A/B Gene Locus as a Major Risk Locus
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Association of Protective HLA-A With HLA-B∗27 Positive Ankylosing Spondylitis
Part of Frontiers in Genetics, 2021
- DOI for Association of Protective HLA-A With HLA-B∗27 Positive Ankylosing Spondylitis
- Download full text (pdf) of Association of Protective HLA-A With HLA-B∗27 Positive Ankylosing Spondylitis
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Part of Molecular biology and evolution, p. 1715-1730, 2021
- DOI for How to make a rodent giant: Genomic basis and tradeoffs of gigantism in the capybara, the world's largest rodent
- Download full text (pdf) of How to make a rodent giant: Genomic basis and tradeoffs of gigantism in the capybara, the world's largest rodent
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3D genomics across the tree of life reveals condensin II as a determinant of architecture type
Part of Science, p. 984-989, 2021
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Part of Animal Genetics, p. 198-207, 2021
- DOI for Roan, ticked and clear coat patterns in the canine are associated with three haplotypes near usherin on CFA38
- Download full text (pdf) of Roan, ticked and clear coat patterns in the canine are associated with three haplotypes near usherin on CFA38
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Part of Molecular Cancer Research, p. 847-861, 2021
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SweHLA: the high confidence HLA typing bio-resource drawn from 1000 Swedish genomes
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
- Download full text (pdf) of SweHLA: the high confidence HLA typing bio-resource drawn from 1000 Swedish genomes
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Nordic OCD & Related Disorders Consortium: Rationale, design, and methods.
Part of American Journal of Medical Genetics Part B, p. 38-50, 2020
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Part of Immunogenetics, p. 315-323, 2020
- DOI for Transcriptomes from German shepherd dogs reveal differences in immune activity between atopic dermatitis affected and control skin
- Download full text (pdf) of Transcriptomes from German shepherd dogs reveal differences in immune activity between atopic dermatitis affected and control skin
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Progressive Cactus is a multiple-genome aligner for the thousand-genome era
Part of Nature, p. 246-251, 2020
- DOI for Progressive Cactus is a multiple-genome aligner for the thousand-genome era
- Download full text (pdf) of Progressive Cactus is a multiple-genome aligner for the thousand-genome era
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A comparative genomics multitool for scientific discovery and conservation
Part of Nature, p. 240-245, 2020
- DOI for A comparative genomics multitool for scientific discovery and conservation
- Download full text (pdf) of A comparative genomics multitool for scientific discovery and conservation
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Part of BMC Genomics, 2020
- DOI for Whole-genome genotyping and resequencing reveal the association of a deletion in the complex interferon alpha gene cluster with hypothyroidism in dogs
- Download full text (pdf) of Whole-genome genotyping and resequencing reveal the association of a deletion in the complex interferon alpha gene cluster with hypothyroidism in dogs
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Targeted sequencing reveals the somatic mutation landscape in a Swedish breast cancer cohort
Part of Scientific Reports, 2020
- DOI for Targeted sequencing reveals the somatic mutation landscape in a Swedish breast cancer cohort
- Download full text (pdf) of Targeted sequencing reveals the somatic mutation landscape in a Swedish breast cancer cohort
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Thoracolumbar meningeal fibrosis in pugs
Part of Journal of Veterinary Internal Medicine, p. 797-807, 2020
- DOI for Thoracolumbar meningeal fibrosis in pugs
- Download full text (pdf) of Thoracolumbar meningeal fibrosis in pugs
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Part of Proceedings of the National Academy of Sciences of the United States of America, p. 22311-22322, 2020
- DOI for Broad host range of SARS-CoV-2 predicted by comparative and structural analysis of ACE2 in vertebrates
- Download full text (pdf) of Broad host range of SARS-CoV-2 predicted by comparative and structural analysis of ACE2 in vertebrates
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Part of Genome Biology, 2020
- DOI for Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes
- Download full text (pdf) of Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes
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Part of European Journal of Human Genetics, p. 432-441, 2019
- DOI for A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts
- Download full text (pdf) of A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts
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Part of American Journal of Physiology. Regulatory Integrative and Comparative Physiology, 2019
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A quantitative framework for characterizing the evolutionary history of mammalian gene expression
Part of Genome Research, p. 53-63, 2019
- DOI for A quantitative framework for characterizing the evolutionary history of mammalian gene expression
- Download full text (pdf) of A quantitative framework for characterizing the evolutionary history of mammalian gene expression
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Genome-Wide Analysis of Long Non-Coding RNA Profiles in Canine Oral Melanomas
Part of Genes, 2019
- DOI for Genome-Wide Analysis of Long Non-Coding RNA Profiles in Canine Oral Melanomas
- Download full text (pdf) of Genome-Wide Analysis of Long Non-Coding RNA Profiles in Canine Oral Melanomas
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BarkBase: Epigenomic Annotation of Canine Genomes
Part of Genes, 2019
- DOI for BarkBase: Epigenomic Annotation of Canine Genomes
- Download full text (pdf) of BarkBase: Epigenomic Annotation of Canine Genomes
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Part of Molecular biology and evolution, p. 2631-2655, 2019
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Part of National Science Review, p. 810-824, 2019
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Part of PLOS Genetics, 2019
- DOI for A synonymous germline variant in a gene encoding a cell adhesion molecule is associated with cutaneous mast cell tumour development in Labrador and Golden Retrievers
- Download full text (pdf) of A synonymous germline variant in a gene encoding a cell adhesion molecule is associated with cutaneous mast cell tumour development in Labrador and Golden Retrievers
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Solenodon genome reveals convergent evolution of venom in eulipotyphlan mammals.
Part of Proceedings of the National Academy of Sciences of the United States of America, p. 25745-25755, 2019
- DOI for Solenodon genome reveals convergent evolution of venom in eulipotyphlan mammals.
- Download full text (pdf) of Solenodon genome reveals convergent evolution of venom in eulipotyphlan mammals.
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Part of Molecular Cancer Research, p. 2410-2421, 2019
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Part of Journal of Clinical Endocrinology and Metabolism, p. 179-186, 2018
- DOI for Cytokine Autoantibody Screening in the Swedish Addison Registry Identifies Patients With Undiagnosed APS1
- Download full text (pdf) of Cytokine Autoantibody Screening in the Swedish Addison Registry Identifies Patients With Undiagnosed APS1
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Part of Clinical and Experimental Rheumatology, 2018
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Part of Human Gene Therapy, 2018
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SETD2 Is Recurrently Mutated in Whole-Exome Sequenced Canine Osteosarcoma
Part of Cancer Research, p. 3421-3431, 2018
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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
- Download full text (pdf) of Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden
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ILF2 and ILF3 are autoantigens in canine systemic autoimmune disease
Part of Scientific Reports, 2018
- DOI for ILF2 and ILF3 are autoantigens in canine systemic autoimmune disease
- Download full text (pdf) of ILF2 and ILF3 are autoantigens in canine systemic autoimmune disease
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Part of The Veterinary Journal, p. 24-30, 2018
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A comprehensive genomic history of extinct and living elephants
Part of Proceedings of the National Academy of Sciences of the United States of America, 2018
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High prevalence of gait abnormalities in pugs
Part of The Veterinary Record, 2018
- DOI for High prevalence of gait abnormalities in pugs
- Download full text (pdf) of High prevalence of gait abnormalities in pugs
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An exome sequencing based approach for genome-wide association studies in the dog
Part of Scientific Reports, 2017
- DOI for An exome sequencing based approach for genome-wide association studies in the dog
- Download full text (pdf) of An exome sequencing based approach for genome-wide association studies in the dog
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Part of Nature Communications, 2017
- DOI for Integrating evolutionary and regulatory information with multispecies approach implicates genes and pathways in obsessive-compulsive disorder
- Download full text (pdf) of Integrating evolutionary and regulatory information with multispecies approach implicates genes and pathways in obsessive-compulsive disorder
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Part of Veterinary dermatology (Print), p. 377-e88, 2017
- DOI for Comparison of cellular location and expression of Plakophilin-2 in epidermal cells from nonlesional atopic skin and healthy skin in German shepherd dogs
- Download full text (pdf) of Comparison of cellular location and expression of Plakophilin-2 in epidermal cells from nonlesional atopic skin and healthy skin in German shepherd dogs
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Part of European Neuropsychopharmacology, 2017
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Interactions between CXCR4 and CXCL12 promote cell migration and invasion of canine hemangiosarcoma
Part of Veterinary and Comparative Oncology, p. 315-327, 2017
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Safe and Effective Sarcoma Therapy through Bispecific Targeting of EGFR and uPAR.
Part of Molecular Cancer Therapeutics, p. 956-965, 2017
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FEELnc: a tool for long non-coding RNA annotation and its application to the dog transcriptome
Part of Nucleic Acids Research, 2017
- DOI for FEELnc: a tool for long non-coding RNA annotation and its application to the dog transcriptome
- Download full text 1 (pdf) of FEELnc: a tool for long non-coding RNA annotation and its application to the dog transcriptome
- Download full text 2 (pdf) of FEELnc: a tool for long non-coding RNA annotation and its application to the dog transcriptome
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Part of Leukemia and Lymphoma, p. 1702-1710, 2017
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The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons
Part of Nature Genetics, p. 427-437, 2016
- DOI for The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons
- Download full text (pdf) of The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons
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Part of BMC Genomics, 2016
- DOI for Absolute quantification reveals the stable transmission of a high copy number variant linked to autoinflammatory disease
- Download full text (pdf) of Absolute quantification reveals the stable transmission of a high copy number variant linked to autoinflammatory disease
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An Improved microRNA Annotation of the Canine Genome
Part of PLOS ONE, 2016
- DOI for An Improved microRNA Annotation of the Canine Genome
- Download full text (pdf) of An Improved microRNA Annotation of the Canine Genome
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Part of Human Genetics, p. 485-497, 2016
- DOI for Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression
- Download full text (pdf) of Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression
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Genome-Wide Analysis Identifies Germ-Line Risk Factors Associated with Canine Mammary Tumours
Part of PLOS Genetics, 2016
- DOI for Genome-Wide Analysis Identifies Germ-Line Risk Factors Associated with Canine Mammary Tumours
- Download full text (pdf) of Genome-Wide Analysis Identifies Germ-Line Risk Factors Associated with Canine Mammary Tumours
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Part of PLOS Genetics, 2016
- DOI for Utilizing the Dog Genome in the Search for Novel Candidate Genes Involved in Glioma Development-Genome Wide Association Mapping followed by Targeted Massive Parallel Sequencing Identifies a Strongly Associated Locus
- Download full text (pdf) of Utilizing the Dog Genome in the Search for Novel Candidate Genes Involved in Glioma Development-Genome Wide Association Mapping followed by Targeted Massive Parallel Sequencing Identifies a Strongly Associated Locus
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Part of BMC Genetics, 2016
- DOI for Multiple regulatory variants located in cell type-specific enhancers within the PKP2 locus form major risk and protective haplotypes for canine atopic dermatitis in German shepherd dogs
- Download full text (pdf) of Multiple regulatory variants located in cell type-specific enhancers within the PKP2 locus form major risk and protective haplotypes for canine atopic dermatitis in German shepherd dogs
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Part of Nature Genetics, p. 152-158, 2016
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Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease
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
- Download full text (pdf) of Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease
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Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy
Part of Proceedings of the National Academy of Sciences of the United States of America, 2016
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Part of Cell Metabolism, p. 893-900, 2016
- DOI for A Deletion in the Canine POMC Gene Is Associated with Weight and Appetite in Obesity-Prone Labrador Retriever Dogs
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Part of Journal of Veterinary Internal Medicine, p. 566-573, 2016
- DOI for Effect of Breed on Plasma Endothelin-1 Concentration, Plasma Renin Activity, and Serum Cortisol Concentration in Healthy Dogs
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Genome-Wide Analyses Suggest Mechanisms Involving Early B-cell Development in Canine IgA Deficiency
Part of PLOS ONE, 2015
- DOI for Genome-Wide Analyses Suggest Mechanisms Involving Early B-cell Development in Canine IgA Deficiency
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Part of Genome Research, p. 1634-1645, 2015
- DOI for Exome sequencing of lymphomas from three dog breeds reveals somatic mutation patterns reflecting genetic background
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Improved canine exome designs, featuring ncRNAs and increased coverage of protein coding genes
Part of Scientific Reports, 2015
- DOI for Improved canine exome designs, featuring ncRNAs and increased coverage of protein coding genes
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cgmisc: Enhanced Genome-wide Association Analyses and Visualisation
Part of Bioinformatics, p. 3830-3831, 2015
- DOI for cgmisc: Enhanced Genome-wide Association Analyses and Visualisation
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Part of PLOS Genetics, 2015
- DOI for Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease
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Part of PLOS Genetics, 2015
- DOI for Genome-Wide Association Study of Golden Retrievers Identifies Germ-Line Risk Factors Predisposing to Mast Cell Tumours
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Convergent evolution of the genomes of marine mammals
Part of Nature Genetics, p. 272-275, 2015
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Part of PLOS Genetics, 2015
- DOI for Genome-wide Association Study Identifies Shared Risk Loci Common to Two Malignancies in Golden Retrievers
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Linked genetic variants on chromosome 10 control ear morphology and body mass among dog breeds
Part of BMC Genomics, 2015
- DOI for Linked genetic variants on chromosome 10 control ear morphology and body mass among dog breeds
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Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype
Part of Cell, p. 1204-1213, 2015
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Part of PLOS ONE, 2015
- DOI for The Shepherds' Tale: A Genome-Wide Study across 9 Dog Breeds Implicates Two Loci in the Regulation of Fructosamine Serum Concentration in Belgian Shepherds
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Part of Chromosome Research, p. 305-319, 2014
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High-Throughput Sequencing of 219 Candidate Genes for Identification of SLE-Associated Risk Variants
Part of Arthritis & Rheumatology, 2014
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Part of Animal Genetics, p. 716-722, 2014
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Rabbit genome analysis reveals a polygenic basis for phenotypic change during domestication
Part of Science, p. 1074-1079, 2014
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Part of PLOS Genetics, 2014
- DOI for Canine Hereditary Ataxia in Old English Sheepdogs and Gordon Setters Is Associated with a Defect in the Autophagy Gene Encoding RAB24
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Genome-wide copy number variant discovery in dogs using the CanineHD genotyping array
Part of BMC Genomics, p. 210, 2014
- DOI for Genome-wide copy number variant discovery in dogs using the CanineHD genotyping array
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A Simple Repeat Polymorphism in the MITF-M Promoter Is a Key Regulator of White Spotting in Dogs
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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Part of Veterinary Immunology and Immunopathology, p. 255-259, 2014
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An Improved Canine Genome and a Comprehensive Catalogue of Coding Genes and Non-Coding Transcripts
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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Lack of evidence for a role of islet autoimmunity in the aetiology of canine diabetes mellitus
Part of PLOS ONE, 2014
- DOI for Lack of evidence for a role of islet autoimmunity in the aetiology of canine diabetes mellitus
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Part of Nature Biotechnology, p. 1250-U114, 2014
- DOI for The draft genome sequence of the ferret (Mustela putorius furo) facilitates study of human respiratory disease
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The genomic substrate for adaptive radiation in African cichlid fish
Part of Nature, p. 375-381, 2014
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Part of Bioinformatics, p. 3558-3560, 2014
- DOI for The Naked Mole Rat Genome Resource: facilitating analyses of cancer and longevity-related adaptations
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Part of Genome Biology, 2014
- DOI for Candidate genes and functional noncoding variants identified in a canine model of obsessive-compulsive disorder
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Breed Distribution of SOD1 Alleles Previously Associated with Canine Degenerative Myelopathy
Part of Journal of Veterinary Internal Medicine, p. 515-521, 2014
- DOI for Breed Distribution of SOD1 Alleles Previously Associated with Canine Degenerative Myelopathy
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Part of American Journal of Pathology, p. 985-995, 2014
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Breed Differences in Natriuretic Peptides in Healthy Dogs
Part of Journal of Veterinary Internal Medicine, p. 451-457, 2014
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Part of PLOS Genetics, 2013
- DOI for Genome-Wide Analysis in German Shepherd Dogs Reveals Association of a Locus on CFA 27 with Atopic Dermatitis
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Part of Genome Biology, 2013
- DOI for Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B
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Unsupervised genome-wide recognition of local relationship patterns
Part of BMC Genomics, p. 347, 2013
- DOI for Unsupervised genome-wide recognition of local relationship patterns
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Part of BMC Genomics, p. 49, 2013
- DOI for Genome reannotation of the lizard Anolis carolinensis based on 14 adult and embryonic deep transcriptomes
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The ESR1 gene is associated with risk for canine mammary tumours
Part of BMC Veterinary Research, p. 69, 2013
- DOI for The ESR1 gene is associated with risk for canine mammary tumours
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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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The genomic signature of dog domestication reveals adaptation to a starch-rich diet
Part of Nature, p. 360-364, 2013
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Molecular Profiling Reveals Prognostically Significant Subtypes of Canine Lymphoma
Part of Veterinary pathology, p. 693-703, 2013
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Part of Nature Genetics, p. 299-303, 2013
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The African coelacanth genome provides insights into tetrapod evolution
Part of Nature, p. 311-316, 2013
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Part of Developmental and Comparative Immunology, p. 180-184, 2013
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Comparative genomics as a tool to understand evolution and disease
Part of Genome Research, p. 1063-1068, 2013
- DOI for Comparative genomics as a tool to understand evolution and disease
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Part of Annals of the Rheumatic Diseases, p. 728-728, 2013
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Part of Human Genetics, p. 1319-1325, 2012
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Part of PLOS Genetics, 2012
- DOI for A High Density SNP Array for the Domestic Horse and Extant Perissodactyla: Utility for Association Mapping, Genetic Diversity, and Phylogeny Studies
- Download full text (pdf) of A High Density SNP Array for the Domestic Horse and Extant Perissodactyla: Utility for Association Mapping, Genetic Diversity, and Phylogeny Studies
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Copy number expansion of the STX17 duplication in melanoma tissue from Grey horses
Part of BMC Genomics, p. 365, 2012
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Convergent and divergent evolution of genomic imprinting in the marsupial Monodelphis domestica
Part of BMC Genomics, p. 394, 2012
- DOI for Convergent and divergent evolution of genomic imprinting in the marsupial Monodelphis domestica
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Copy number expansion of the STX17 duplication in melanoma tissue from Grey horses
Part of BMC Genomics, p. 365, 2012
- DOI for Copy number expansion of the STX17 duplication in melanoma tissue from Grey horses
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Two Loci on Chromosome 5 Are Associated with Serum IgE Levels in Labrador Retrievers
Part of PLOS ONE, 2012
- DOI for Two Loci on Chromosome 5 Are Associated with Serum IgE Levels in Labrador Retrievers
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Rethinking dog domestication by integrating genetics, archeology, and biogeography
Part of Proceedings of the National Academy of Sciences of the United States of America, p. 8878-8883, 2012
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The genomic basis of adaptive evolution in threespine sticklebacks
Part of Nature, p. 55-61, 2012
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Novel origins of copy number variation in the dog genome
Part of Genome Biology, 2012
- DOI for Novel origins of copy number variation in the dog genome
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Death of PRDM9 coincides with stabilization of the recombination landscape in the dog genome
Part of Genome Research, p. 51-63, 2011
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Part of PLOS Genetics, 2011
- DOI for Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping
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Part of BMC Research Notes, p. 226, 2011
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Exploiting Nucleotide Composition to Engineer Promoters
Part of PLoS One, 2011
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Part of Leukemia and Lymphoma, p. 1321-1335, 2011
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Part of Bone, p. 356-367, 2011
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Part of PLoS Genetics, 2011
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Part of PLoS ONE, 2011
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Part of PLoS one, 2011
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The genome of the green anole lizard and a comparative analysis with birds and mammals
Part of Nature, p. 587-591, 2011
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Full-length transcriptome assembly from RNA-Seq data without a reference genome
Part of Nature Biotechnology, p. 644-652, 2011
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Three periods of regulatory innovation during vertebrate evolution
Part of Science, p. 1019-1024, 2011
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Part of Neurobiology of Disease, p. 468-474, 2011
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Mutation discovery in mice by whole exome sequencing
Part of Genome Biology, 2011
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A high-resolution map of human evolutionary constraint using 29 mammals
Part of Nature, p. 476-482, 2011
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LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs
Part of PLoS Genetics, 2011
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Comparative physical maps derived from BAC end sequences of tilapia (Oreochromis niloticus).
Part of BMC Genomics, 2010
- DOI for Comparative physical maps derived from BAC end sequences of tilapia (Oreochromis niloticus).
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Genome-wide synteny through highly sensitive sequence alignment: Satsuma
Part of Bioinformatics, p. 1145-1151, 2010
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Whole genome resequencing reveals loci under selection during chicken domestication
Part of Nature, p. 587-591, 2010
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Part of BMC Genetics, p. 106, 2010
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ZBED6: the birth of a new transcription factor in the common ancestor of placental mammals
Part of Transcription, p. 144-148, 2010
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Part of Briefings in Functional Genomics & Proteomics, p. 193-207, 2010
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Diabetes Mellitus in Elkhounds Is Associated with Diestrus and Pregnancy
Part of Journal of Veterinary Internal Medicine, p. 1322-1328, 2010
- DOI for Diabetes Mellitus in Elkhounds Is Associated with Diestrus and Pregnancy
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Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex.
Part of Nature Genetics, p. 250-254, 2010
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A canine chromosome 7 locus confers compulsive disorder susceptibility
Part of Molecular Psychiatry, p. 8-10, 2010
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Association of dopamine- and serotonin-related genes with canine aggression
Part of Genes, Brain and Behavior, p. 372-378, 2010
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Part of Human Genetics, p. 315-324, 2010
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Localization of canine brachycephaly using an across breed mapping approach
Part of PLoS ONE, 2010
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A deletion in the N-myc downstream regulated gene 1 (NDRG1) gene in Greyhounds with polyneuropathy
Part of PloS one, 2010
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Part of PLoS Genetics, 2010
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DLA Class II Alleles Are Associated with Risk for Canine Symmetrical Lupoid Onychodystropy (SLO)
Part of PLoS ONE, 2010
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Lineage-specific biology revealed by a finished genome assembly of the mouse
Part of PLoS biology, 2009
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Part of PLoS biology, 2009
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Genome Sequence, Comparative Analysis, and Population Genetics of the Domestic Horse
Part of Science, p. 865-867, 2009
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Mammary tumor development in dogs is associated with BRCA1 and BRCA2
Part of Cancer Research, p. 8770-8774, 2009
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Part of Proceedings of the National Academy of Sciences of the United States of America, p. 2794-2799, 2009
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Part of Animal Genetics, p. 572-574, 2009
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Part of Chromosome Research, p. 987-1000, 2009
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Assisted assembly: how to improve a de novo genome assembly by using related species
Part of Genome Biology, 2009
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Identification of Repetitive Elements in the Genome of Oreochromis niloticus: Tilapia Repeat Masker
Part of Marine Biotechnology, p. 121-125, 2009
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A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta
Part of PLoS genetics, 2009
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Part of Nature Genetics, p. 1004-1009, 2008
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A mutation in hairless dogs implicates FOXI3 in ectodermal development
Part of Science, p. 1462, 2008
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Part of Genome Research, p. 1415-21, 2008
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Sequencing the nuclear genome of the extinct woolly mammoth.
Part of Nature, p. 387-390, 2008
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Part of Behavior Genetics, p. 55-66, 2008
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Part of Cytogenetic and Genome Research, p. 110-121, 2008
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Patterns of molecular genetic variation among cat breeds.
Part of Genomics, p. 1-11, 2008
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Evolution of genes and genomes on the Drosophila phylogeny
Part of Nature, p. 203-218, 2007
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Part of BMC Genomics, p. 50, 2007
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Part of Nature Genetics, p. 1318-1320, 2007
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Efficient mapping of mendelian traits in dogs through genome-wide association
Part of Nature Genetics, p. 1321-1328, 2007
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28-Way vertebrate alignment and conservation track in the UCSC Genome Browser
Part of Genome Research, p. 1797-1808, 2007
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Part of Chromosome Research, p. 361-370, 2007
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Distinguishing protein-coding and noncoding genes in the human genome
Part of Proceedings of the National Academy of Sciences of the United States of America, p. 19428-19433, 2007
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Genome of the marsupial Monodelphis domestica reveals innovation in non-coding sequences
Part of Nature, p. 167-177, 2007
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Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome
Part of Genome Research, p. 760-774, 2007
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A unique T cell receptor discovered in marsupials
Part of Proceedings of the National Academy of Sciences of the United States of America, p. 9776-9781, 2007
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Initial sequence and comparative analysis of the cat genome
Part of Genome Research, p. 1675-1689, 2007
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Heart development in fibronectin-null mice is governed by a genetic modifier on chromosome four
Part of Mechanisms of Development, p. 551-558, 2007
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Part of Proceedings of the National Academy of Sciences of the United States of America, p. 7145-7150, 2007
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Part of Nature, p. 799-816, 2007
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Genome sequence, comparative analysis and haplotype structure of the domestic dog.
Part of Nature, p. 803-19, 2005
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Spastic paraplegia, ataxia, mental retardation (SPAR): A novel genetic disorder
Part of Neurology, p. 411-416, 2002
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Part of International Journal of Molecular Medicine, p. 289-294, 2001
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A cloning strategy for identification of genes containing trinucleotide repeat expansions
Part of International Journal of Molecular Medicine, p. 427-431, 2001
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Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease
Part of Nature Genetics, p. 223-228, 2001
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Part of Psychiatric Genetics, p. 129-137, 2001
Articles, review/survey
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What animals can teach us about evolution, the human genome, and human disease
Part of Upsala Journal of Medical Sciences, p. 1-9, 2020
- DOI for What animals can teach us about evolution, the human genome, and human disease
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Dissecting evolution and disease using comparative vertebrate genomics
Part of Nature reviews genetics, p. 624-636, 2017
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Part of The Veterinary Journal, p. 155-159, 2011
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Leader of the pack: gene mapping in dogs and other model organisms
Part of Nature reviews genetics, p. 713-725, 2008
Chapters in book
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Repeat Expansion Detection (RED) and the RED Cloning Strategy
Part of Neurogenetics, p. 51-60, Humana Press, 2003