Kerstin Lindblad-Toh
Professor at Department of Medical Biochemistry and Microbiology; Genetics and Genomics; Kerstin Lindblad-Toh
- Mobile phone:
- +46 70 324 23 36
- 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
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
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
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
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
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
All publications
Articles in journal
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
The functional and evolutionary impacts of human-specific deletions in conserved elements
Part of Science, 2023
Three-dimensional genome rewiring in loci with human accelerated regions
Part of Science, 2023
Leveraging base-pair mammalian constraint to understand genetic variation and human disease
Part of Science, p. 367-+, 2023
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
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
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
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
Relating enhancer genetic variation across mammals to complex phenotypes using machine learning
Part of Science, 2023
Comparative genomics of Balto, a famous historic dog, captures lost diversity of 1920s sled dogs
Part of Science, 2023
Mammalian evolution of human cis-regulatory elements and transcription factor binding sites
Part of Science, 2023
Integrating gene annotation with orthology inference at scale
Part of Science, p. 368-+, 2023
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
Evolutionary constraint and innovation across hundreds of placental mammals
Part of Science, 2023
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
A genomic timescale for placental mammal evolution
Part of Science, p. 365-+, 2023
The contribution of historical processes to contemporary extinction risk in placental mammals
Part of Science, 2023
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
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
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
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
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
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
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
Part of Proceedings of the National Academy of Sciences of the United States of America, 2022
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
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
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
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
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
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
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
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
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
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
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
Part of Rheumatology, p. 3461-3470, 2021
- 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
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
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
3D genomics across the tree of life reveals condensin II as a determinant of architecture type
Part of Science, p. 984-989, 2021
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
Part of Molecular Cancer Research, p. 847-861, 2021
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
Nordic OCD & Related Disorders Consortium: Rationale, design, and methods.
Part of American Journal of Medical Genetics Part B, p. 38-50, 2020
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
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
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
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
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
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
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
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
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
Part of American Journal of Physiology. Regulatory Integrative and Comparative Physiology, 2019
Part of Molecular biology and evolution, p. 2631-2655, 2019
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
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
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
Part of National Science Review, p. 810-824, 2019
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
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.
Part of Molecular Cancer Research, p. 2410-2421, 2019
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
Part of Clinical and Experimental Rheumatology, 2018
Part of Human Gene Therapy, 2018
SETD2 Is Recurrently Mutated in Whole-Exome Sequenced Canine Osteosarcoma
Part of Cancer Research, p. 3421-3431, 2018
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
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
Part of The Veterinary Journal, p. 24-30, 2018
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
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
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
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
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
Part of European Neuropsychopharmacology, 2017
Safe and Effective Sarcoma Therapy through Bispecific Targeting of EGFR and uPAR.
Part of Molecular Cancer Therapeutics, p. 956-965, 2017
Interactions between CXCR4 and CXCL12 promote cell migration and invasion of canine hemangiosarcoma
Part of Veterinary and Comparative Oncology, p. 315-327, 2017
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
Part of Leukemia and Lymphoma, p. 1702-1710, 2017
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
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
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
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
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
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
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
Part of Nature Genetics, p. 152-158, 2016
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
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
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
- Download full text (pdf) of A Deletion in the Canine POMC Gene Is Associated with Weight and Appetite in Obesity-Prone Labrador Retriever Dogs
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
- Download full text (pdf) of Effect of Breed on Plasma Endothelin-1 Concentration, Plasma Renin Activity, and Serum Cortisol Concentration in Healthy Dogs
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
- Download full text (pdf) of Genome-Wide Analyses Suggest Mechanisms Involving Early B-cell Development in Canine IgA Deficiency
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
- Download full text (pdf) of Exome sequencing of lymphomas from three dog breeds reveals somatic mutation patterns reflecting genetic background
Part of PLOS Genetics, 2015
- DOI for Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease
- Download full text (pdf) of Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease
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
- Download full text (pdf) of cgmisc: Enhanced Genome-wide Association Analyses and Visualisation
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
- Download full text (pdf) of Improved canine exome designs, featuring ncRNAs and increased coverage of protein coding genes
Convergent evolution of the genomes of marine mammals
Part of Nature Genetics, p. 272-275, 2015
Part of PLOS Genetics, 2015
- DOI for Genome-wide Association Study Identifies Shared Risk Loci Common to Two Malignancies in Golden Retrievers
- Download full text (pdf) of Genome-wide Association Study Identifies Shared Risk Loci Common to Two Malignancies in Golden Retrievers
Part of PLOS Genetics, 2015
- DOI for Genome-Wide Association Study of Golden Retrievers Identifies Germ-Line Risk Factors Predisposing to Mast Cell Tumours
- Download full text (pdf) of Genome-Wide Association Study of Golden Retrievers Identifies Germ-Line Risk Factors Predisposing to Mast Cell Tumours
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
- Download full text (pdf) of Linked genetic variants on chromosome 10 control ear morphology and body mass among dog breeds
Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype
Part of Cell, p. 1204-1213, 2015
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
- Download full text (pdf) of The Shepherds' Tale: A Genome-Wide Study across 9 Dog Breeds Implicates Two Loci in the Regulation of Fructosamine Serum Concentration in Belgian Shepherds
Part of Chromosome Research, p. 305-319, 2014
High-Throughput Sequencing of 219 Candidate Genes for Identification of SLE-Associated Risk Variants
Part of Arthritis & Rheumatology, 2014
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
- Download full text (pdf) of Canine Hereditary Ataxia in Old English Sheepdogs and Gordon Setters Is Associated with a Defect in the Autophagy Gene Encoding RAB24
Part of Animal Genetics, p. 716-722, 2014
Rabbit genome analysis reveals a polygenic basis for phenotypic change during domestication
Part of Science, p. 1074-1079, 2014
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
- Download full text (pdf) of Genome-wide copy number variant discovery in dogs using the CanineHD genotyping array
Part of Veterinary Immunology and Immunopathology, p. 255-259, 2014
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
- Download full text (pdf) of A Simple Repeat Polymorphism in the MITF-M Promoter Is a Key Regulator of White Spotting in Dogs
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
- Download full text (pdf) of Lack of evidence for a role of islet autoimmunity in the aetiology of canine diabetes mellitus
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
- Download full text (pdf) of An Improved Canine Genome and a Comprehensive Catalogue of Coding Genes and Non-Coding Transcripts
The genomic substrate for adaptive radiation in African cichlid fish
Part of Nature, p. 375-381, 2014
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
- Download full text (pdf) of The draft genome sequence of the ferret (Mustela putorius furo) facilitates study of human respiratory disease
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
- Download full text (pdf) of Breed Distribution of SOD1 Alleles Previously Associated with Canine Degenerative Myelopathy
Breed Differences in Natriuretic Peptides in Healthy Dogs
Part of Journal of Veterinary Internal Medicine, p. 451-457, 2014
Part of American Journal of Pathology, p. 985-995, 2014
Part of Genome Biology, 2014
- DOI for Candidate genes and functional noncoding variants identified in a canine model of obsessive-compulsive disorder
- Download full text (pdf) of Candidate genes and functional noncoding variants identified in a canine model of obsessive-compulsive disorder
Part of Bioinformatics, p. 3558-3560, 2014
- DOI for The Naked Mole Rat Genome Resource: facilitating analyses of cancer and longevity-related adaptations
- Download full text (pdf) of The Naked Mole Rat Genome Resource: facilitating analyses of cancer and longevity-related adaptations
Part of Genome Biology, 2013
- DOI for Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B
- Download full text (pdf) of Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B
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
- Download full text (pdf) of Genome-Wide Analysis in German Shepherd Dogs Reveals Association of a Locus on CFA 27 with Atopic Dermatitis
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
- Download full text (pdf) of Unsupervised genome-wide recognition of local relationship patterns
Part of BMC Genomics, p. 49, 2013
- DOI for Genome reannotation of the lizard Anolis carolinensis based on 14 adult and embryonic deep transcriptomes
- Download full text (pdf) of Genome reannotation of the lizard Anolis carolinensis based on 14 adult and embryonic deep transcriptomes
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
- Download full text (pdf) of The ESR1 gene is associated with risk for canine mammary tumours
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
- Download full text (pdf) of Thorough investigation of a canine autoinflammatory disease (AID) syndrome confirms one main risk factor and suggests a modifier locus for amyloidosis
The genomic signature of dog domestication reveals adaptation to a starch-rich diet
Part of Nature, p. 360-364, 2013
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
- Download full text (pdf) of Comparative genomics as a tool to understand evolution and disease
Molecular Profiling Reveals Prognostically Significant Subtypes of Canine Lymphoma
Part of Veterinary pathology, p. 693-703, 2013
The African coelacanth genome provides insights into tetrapod evolution
Part of Nature, p. 311-316, 2013
Part of Developmental and Comparative Immunology, p. 180-184, 2013
Part of Nature Genetics, p. 299-303, 2013
Part of Annals of the Rheumatic Diseases, p. 728-728, 2013
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
Part of Human Genetics, p. 1319-1325, 2012
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
- Download full text (pdf) of Copy number expansion of the STX17 duplication in melanoma tissue from Grey horses
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
- Download full text (pdf) of Convergent and divergent evolution of genomic imprinting in the marsupial Monodelphis domestica
Copy number expansion of the STX17 duplication in melanoma tissue from Grey horses
Part of BMC Genomics, p. 365, 2012
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
- Download full text (pdf) of Two Loci on Chromosome 5 Are Associated with Serum IgE Levels in Labrador Retrievers
The genomic basis of adaptive evolution in threespine sticklebacks
Part of Nature, p. 55-61, 2012
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
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
- Download full text (pdf) of Novel origins of copy number variation in the dog genome
Death of PRDM9 coincides with stabilization of the recombination landscape in the dog genome
Part of Genome Research, p. 51-63, 2011
Part of PLOS Genetics, 2011
- DOI for Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping
- Download full text (pdf) of Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping
Part of BMC Research Notes, p. 226, 2011
Part of PLoS one, 2011
Part of PLoS Genetics, 2011
Exploiting Nucleotide Composition to Engineer Promoters
Part of PLoS One, 2011
Part of Leukemia and Lymphoma, p. 1321-1335, 2011
Part of Bone, p. 356-367, 2011
Part of PLoS ONE, 2011
The genome of the green anole lizard and a comparative analysis with birds and mammals
Part of Nature, p. 587-591, 2011
Full-length transcriptome assembly from RNA-Seq data without a reference genome
Part of Nature Biotechnology, p. 644-652, 2011
Three periods of regulatory innovation during vertebrate evolution
Part of Science, p. 1019-1024, 2011
Part of Neurobiology of Disease, p. 468-474, 2011
Mutation discovery in mice by whole exome sequencing
Part of Genome Biology, 2011
A high-resolution map of human evolutionary constraint using 29 mammals
Part of Nature, p. 476-482, 2011
LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs
Part of PLoS Genetics, 2011
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).
Whole genome resequencing reveals loci under selection during chicken domestication
Part of Nature, p. 587-591, 2010
Genome-wide synteny through highly sensitive sequence alignment: Satsuma
Part of Bioinformatics, p. 1145-1151, 2010
Part of BMC Genetics, p. 106, 2010
Part of Briefings in Functional Genomics & Proteomics, p. 193-207, 2010
ZBED6: the birth of a new transcription factor in the common ancestor of placental mammals
Part of Transcription, p. 144-148, 2010
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
- Download full text (pdf) of Diabetes Mellitus in Elkhounds Is Associated with Diestrus and Pregnancy
Association of dopamine- and serotonin-related genes with canine aggression
Part of Genes, Brain and Behavior, p. 372-378, 2010
A canine chromosome 7 locus confers compulsive disorder susceptibility
Part of Molecular Psychiatry, p. 8-10, 2010
Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex.
Part of Nature Genetics, p. 250-254, 2010
Part of Human Genetics, p. 315-324, 2010
DLA Class II Alleles Are Associated with Risk for Canine Symmetrical Lupoid Onychodystropy (SLO)
Part of PLoS ONE, 2010
A deletion in the N-myc downstream regulated gene 1 (NDRG1) gene in Greyhounds with polyneuropathy
Part of PloS one, 2010
Localization of canine brachycephaly using an across breed mapping approach
Part of PLoS ONE, 2010
Part of PLoS Genetics, 2010
Lineage-specific biology revealed by a finished genome assembly of the mouse
Part of PLoS biology, 2009
Genome Sequence, Comparative Analysis, and Population Genetics of the Domestic Horse
Part of Science, p. 865-867, 2009
Part of PLoS biology, 2009
Mammary tumor development in dogs is associated with BRCA1 and BRCA2
Part of Cancer Research, p. 8770-8774, 2009
Part of Proceedings of the National Academy of Sciences of the United States of America, p. 2794-2799, 2009
Part of Chromosome Research, p. 987-1000, 2009
Identification of Repetitive Elements in the Genome of Oreochromis niloticus: Tilapia Repeat Masker
Part of Marine Biotechnology, p. 121-125, 2009
Assisted assembly: how to improve a de novo genome assembly by using related species
Part of Genome Biology, 2009
Part of Animal Genetics, p. 572-574, 2009
A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta
Part of PLoS genetics, 2009
Part of Nature Genetics, p. 1004-1009, 2008
A mutation in hairless dogs implicates FOXI3 in ectodermal development
Part of Science, p. 1462, 2008
Part of Genome Research, p. 1415-21, 2008
Sequencing the nuclear genome of the extinct woolly mammoth.
Part of Nature, p. 387-390, 2008
Part of Cytogenetic and Genome Research, p. 110-121, 2008
Part of Behavior Genetics, p. 55-66, 2008
Patterns of molecular genetic variation among cat breeds.
Part of Genomics, p. 1-11, 2008
Evolution of genes and genomes on the Drosophila phylogeny
Part of Nature, p. 203-218, 2007
Part of BMC Genomics, p. 50, 2007
Part of Nature Genetics, p. 1318-1320, 2007
Efficient mapping of mendelian traits in dogs through genome-wide association
Part of Nature Genetics, p. 1321-1328, 2007
28-Way vertebrate alignment and conservation track in the UCSC Genome Browser
Part of Genome Research, p. 1797-1808, 2007
Part of Chromosome Research, p. 361-370, 2007
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
Part of Proceedings of the National Academy of Sciences of the United States of America, p. 7145-7150, 2007
Heart development in fibronectin-null mice is governed by a genetic modifier on chromosome four
Part of Mechanisms of Development, p. 551-558, 2007
Initial sequence and comparative analysis of the cat genome
Part of Genome Research, p. 1675-1689, 2007
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
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome
Part of Genome Research, p. 760-774, 2007
Genome of the marsupial Monodelphis domestica reveals innovation in non-coding sequences
Part of Nature, p. 167-177, 2007
Part of Nature, p. 799-816, 2007
Genome sequence, comparative analysis and haplotype structure of the domestic dog.
Part of Nature, p. 803-19, 2005
Spastic paraplegia, ataxia, mental retardation (SPAR): A novel genetic disorder
Part of Neurology, p. 411-416, 2002
A cloning strategy for identification of genes containing trinucleotide repeat expansions
Part of International Journal of Molecular Medicine, p. 427-431, 2001
Part of Psychiatric Genetics, p. 129-137, 2001
Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease
Part of Nature Genetics, p. 223-228, 2001
Part of International Journal of Molecular Medicine, p. 289-294, 2001
Articles, review/survey
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
- Download full text (pdf) of What animals can teach us about evolution, the human genome, and human disease
Dissecting evolution and disease using comparative vertebrate genomics
Part of Nature reviews genetics, p. 624-636, 2017
Part of The Veterinary Journal, p. 155-159, 2011
Leader of the pack: gene mapping in dogs and other model organisms
Part of Nature reviews genetics, p. 713-725, 2008
Chapters in book
Repeat Expansion Detection (RED) and the RED Cloning Strategy
Part of Neurogenetics, p. 51-60, Humana Press, 2003