Kerstin Lindblad-Toh

A burden of rare copy number variants in obsessive-compulsive disorder

Halvorsen, Matthew W.; de Schipper, Elles; Bäckman, Julia; Strom, Nora I. et al.

Ingår i Molecular Psychiatry, s. 1510-1517, 2025

• DOI för 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

Belanger, Janelle M.; Gershony, Liza C.; Bell, Jerold S.; Hytönen, Marjo K. et al.

Ingår i Genes, 2025

• DOI för Measures of Homozygosity and Relationship to Genetic Diversity in the Bearded Collie Breed
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Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases

Bianchi, Matteo; Kozyrev, Sergey V.; Notarnicola, Antonella; Sandling, Johanna K. et al.

Ingår i Arthritis & Rheumatology, s. 212-225, 2025

• DOI för 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

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

Ingår i Nature Communications, 2025

• DOI för Interpreting mammalian synonymous site conservation in light of the unwanted transcript hypothesis
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Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival

van der Heiden, Anna Darlene; Pensch, Raphaela; Agger, Sophie; Gardner, Heather L. et al.

Ingår i Scientific Reports, 2025

• DOI för Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival
• Ladda ner fulltext (pdf) av Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival

A burden of rare copy number variants in obsessive-compulsive disorder

Halvorsen, Matthew W.; de Schipper, Elles; Bäckman, Julia; Strom, Nora I. et al.

Ingår i Molecular Psychiatry, s. 1510-1517, 2025

• DOI för A burden of rare copy number variants in obsessive-compulsive disorder
• Ladda ner fulltext (pdf) av A burden of rare copy number variants in obsessive-compulsive disorder

Measures of Homozygosity and Relationship to Genetic Diversity in the Bearded Collie Breed

Belanger, Janelle M.; Gershony, Liza C.; Bell, Jerold S.; Hytönen, Marjo K. et al.

Ingår i Genes, 2025

• DOI för Measures of Homozygosity and Relationship to Genetic Diversity in the Bearded Collie Breed
• Ladda ner fulltext (pdf) av Measures of Homozygosity and Relationship to Genetic Diversity in the Bearded Collie Breed

Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases

Bianchi, Matteo; Kozyrev, Sergey V.; Notarnicola, Antonella; Sandling, Johanna K. et al.

Ingår i Arthritis & Rheumatology, s. 212-225, 2025

• DOI för Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases
• Ladda ner fulltext (pdf) av 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

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

Ingår i Nature Communications, 2025

• DOI för Interpreting mammalian synonymous site conservation in light of the unwanted transcript hypothesis
• Ladda ner fulltext (pdf) av Interpreting mammalian synonymous site conservation in light of the unwanted transcript hypothesis

Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival

van der Heiden, Anna Darlene; Pensch, Raphaela; Agger, Sophie; Gardner, Heather L. et al.

Ingår i Scientific Reports, 2025

• DOI för Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival
• Ladda ner fulltext (pdf) av Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival

A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile

Lindelöf, Linnea; Rantapää-Dahlqvist, Solbritt; Lundtoft, Christian; Sandling, Johanna K. et al.

Ingår i Journal of Autoimmunity, 2024

• DOI för A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile
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The HLA region in ANCA-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population

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

Ingår i RMD Open, 2024

• DOI för The HLA region in ANCA-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population
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Genome wide association study in Swedish Labrador retrievers identifies genetic loci associated with hip dysplasia and body weight

Kieler, Ida Nordang; Persson, Sofia Malm; Hagman, Ragnvi; Marinescu, Voichita et al.

Ingår i Scientific Reports, 2024

• DOI för Genome wide association study in Swedish Labrador retrievers identifies genetic loci associated with hip dysplasia and body weight
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Identification of constrained sequence elements across 239 primate genomes

Kuderna, Lukas F. K.; Ulirsch, Jacob C.; Rashid, Sabrina; Ameen, Mohamed et al.

Ingår i Nature, s. 735-742, 2024

• DOI för Identification of constrained sequence elements across 239 primate genomes
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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

Rohdin, Cecilia; Ljungvall, Ingrid; Jäderlund, Karin Hultin; Svensson, Anna et al.

Ingår i The Veterinary Record, 2024

• DOI för 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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In sickness and health - a questionnaire based study regarding immune mediated diseases and neoplasia in Swedish Nova Scotia Duck Tolling Retrievers

Nilsson, Malin; Kozyrev, Sergey V.; Lindblad-Toh, Kerstin; Roennberg, Henrik et al.

Ingår i Acta Veterinaria Scandinavica, 2024

• DOI för 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

Kim, Jong Hyuk; Schulte, Ashley J.; Sarver, Aaron L.; Lee, Donghee et al.

Ingår i Cancer Research Communications, s. 1467-1480, 2024

• DOI för Hemangiosarcoma Cells Promote Conserved Host-derived Hematopoietic Expansion
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Elevated levels of IL-12/IL-23p40 in Nova Scotia Duck Tolling Retrievers with autoimmune disease and lymphoma

Nilsson, Malin; Kozyrev, Sergey V.; Saellstrom, Sara; Johansson, Siri et al.

Ingår i Scientific Reports, 2024

• DOI för Elevated levels of IL-12/IL-23p40 in Nova Scotia Duck Tolling Retrievers with autoimmune disease and lymphoma
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Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies

Leclair, Valerie; Galindo-Feria, Angeles S.; Rothwell, Simon; Krystufkova, Olga et al.

Ingår i EBioMedicine, 2023

• DOI för Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies
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Using evolutionary constraint to define novel candidate driver genes in medulloblastoma

Roy, Ananya; Sakthikumar, Sharadha; Kozyrev, Sergey V.; Nordin, Jessika et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, 2023

• DOI för Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
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The functional and evolutionary impacts of human-specific deletions in conserved elements

Xue, James R.; Mackay-Smith, Ava; Mouri, Kousuke; Garcia, Meilin Fernandez et al.

Ingår i Science, 2023

• DOI för The functional and evolutionary impacts of human-specific deletions in conserved elements

Three-dimensional genome rewiring in loci with human accelerated regions

Keough, Kathleen C.; Whalen, Sean; Inoue, Fumitaka; Przytycki, Pawel F. et al.

Ingår i Science, 2023

• DOI för Three-dimensional genome rewiring in loci with human accelerated regions

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

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

Ingår i Science, s. 367-+, 2023

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

Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease

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

Ingår i European Journal of Endocrinology, s. 235-241, 2023

• DOI för 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

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

Ingår i PLOS Genetics, 2023

• DOI för Bayesian mixed model analysis uncovered 21 risk loci for chronic kidney disease in boxer dogs
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Stratified genetic analysis reveals sex differences in MPO-ANCA-associated vasculitis

Ekman, Diana; Sennblad, Bengt; Knight, Ann; Karlsson, Åsa et al.

Ingår i Rheumatology, s. 3213-3218, 2023

• DOI för Stratified genetic analysis reveals sex differences in MPO-ANCA-associated vasculitis
• Ladda ner fulltext (pdf) av Stratified genetic analysis reveals sex differences in MPO-ANCA-associated vasculitis

Multiple Genetic Loci Associated with Pug Dog Thoracolumbar Myelopathy

Brander, Gustaf; Rohdin, Cecilia; Bianchi, Matteo; Bergvall, Kerstin et al.

Ingår i Genes, 2023

• DOI för Multiple Genetic Loci Associated with Pug Dog Thoracolumbar Myelopathy
• Ladda ner fulltext (pdf) av Multiple Genetic Loci Associated with Pug Dog Thoracolumbar Myelopathy

Relating enhancer genetic variation across mammals to complex phenotypes using machine learning

Kaplow, Irene M.; Lawler, Alyssa J.; Schäffer, Daniel E.; Srinivasan, Chaitanya et al.

Ingår i Science, 2023

• DOI för Relating enhancer genetic variation across mammals to complex phenotypes using machine learning

​Comparative genomics of Balto, a famous historic dog, captures lost diversity of 1920s sled dogs

Moon, Katherine L.; Huson, Heather J.; Morrill, Kathleen; Wang, Ming-Shan et al.

Ingår i Science, 2023

• DOI för ​Comparative genomics of Balto, a famous historic dog, captures lost diversity of 1920s sled dogs

Mammalian evolution of human cis-regulatory elements and transcription factor binding sites

Andrews, Gregory; Fan, Kaili; Pratt, Henry E.; Phalke, Nishigandha et al.

Ingår i Science, 2023

• DOI för Mammalian evolution of human cis-regulatory elements and transcription factor binding sites

Integrating gene annotation with orthology inference at scale

Kirilenko, Bogdan M.; Munegowda, Chetan; Osipova, Ekaterina; Jebb, David et al.

Ingår i Science, s. 368-+, 2023

• DOI för Integrating gene annotation with orthology inference at scale

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

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

Ingår i Genome Biology, 2023

• DOI för Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture
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Chiropterans Are a Hotspot for Horizontal Transfer of DNA Transposons in Mammalia

Paulat, Nicole S.; Storer, Jessica M.; Moreno-Santillan, Diana D.; Osmanski, Austin B. et al.

Ingår i Molecular biology and evolution, 2023

• DOI för Chiropterans Are a Hotspot for Horizontal Transfer of DNA Transposons in Mammalia
• Ladda ner fulltext (pdf) av Chiropterans Are a Hotspot for Horizontal Transfer of DNA Transposons in Mammalia

Evolutionary constraint and innovation across hundreds of placental mammals

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

Ingår i Science, 2023

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

A genomic timescale for placental mammal evolution

Foley, Nicole M.; Mason, Victor C.; Harris, Andrew J.; Bredemeyer, Kevin R. et al.

Ingår i Science, s. 365-+, 2023

• DOI för A genomic timescale for placental mammal evolution

The contribution of historical processes to contemporary extinction risk in placental mammals

Wilder, Aryn P.; Supple, Megan A.; Subramanian, Ayshwarya; Mudide, Anish et al.

Ingår i Science, 2023

• DOI för The contribution of historical processes to contemporary extinction risk in placental mammals

PIK3CA is recurrently mutated in canine mammary tumors, similarly to in human mammary neoplasia

Arendt, Maja Louise; Sakthikumar, Sharadha; Melin, Malin; Elvers, Ingegerd et al.

Ingår i Scientific Reports, 2023

• DOI för PIK3CA is recurrently mutated in canine mammary tumors, similarly to in human mammary neoplasia
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Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease

Yavuz, Sule; Pucholt, Pascal; Sandling, Johanna K.; Bianchi, Matteo et al.

Ingår i Lupus Science and Medicine, 2022

• DOI för Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease
• Ladda ner fulltext (pdf) av Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease

Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases

Lundtoft, Christian; Pucholt, Pascal; Martin, Myriam; Bianchi, Matteo et al.

Ingår i Arthritis & Rheumatology, s. 1440-1450, 2022

• DOI för Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases
• Ladda ner fulltext (pdf) av Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases

Contribution of rare genetic variation to disease susceptibility in a large Scandinavian myositis cohort

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

Ingår i Arthritis & Rheumatology, s. 342-352, 2022

• DOI för Contribution of rare genetic variation to disease susceptibility in a large Scandinavian myositis cohort
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Allele frequency spectrum of known ankylosing spondylitis associated variants in a Swedish population

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

Ingår i Scandinavian Journal of Rheumatology, s. 21-24, 2022

• DOI för Allele frequency spectrum of known ankylosing spondylitis associated variants in a Swedish population
• Ladda ner fulltext (pdf) av Allele frequency spectrum of known ankylosing spondylitis associated variants in a Swedish population

Evolution of the ancestral mammalian karyotype and syntenic regions

Damas, Joana; Corbo, Marco; Kim, Jaebum; Turner-Maier, Jason et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, 2022

• DOI för Evolution of the ancestral mammalian karyotype and syntenic regions
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The Antarctic Weddell seal genome reveals evidence of selection on cardiovascular phenotype and lipid handling

Noh, Hyun Ji; Turner-Maier, Jason; Schulberg, S. Anne; Fitzgerald, Michael L. et al.

Ingår i Communications Biology, 2022

• DOI för The Antarctic Weddell seal genome reveals evidence of selection on cardiovascular phenotype and lipid handling
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Why sequence all eukaryotes?

Blaxter, Mark; Archibald, John M.; Childers, Anna K.; Coddington, Jonathan A. et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, 2022

• DOI för Why sequence all eukaryotes?
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Canine Oral Melanoma Genomic and Transcriptomic Study Defines Two Molecular Subgroups with Different Therapeutical Targets

Prouteau, Anais; Mottier, Stephanie; Primot, Aline; Cadieu, Edouard et al.

Ingår i Cancers, s. 276, 2022

• DOI för Canine Oral Melanoma Genomic and Transcriptomic Study Defines Two Molecular Subgroups with Different Therapeutical Targets
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Bayesian model and selection signature analyses reveal risk factors for canine atopic dermatitis

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

Ingår i Communications Biology, 2022

• DOI för Bayesian model and selection signature analyses reveal risk factors for canine atopic dermatitis
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The Earth BioGenome Project 2020: Starting the clock

Lewin, Harris A.; Richards, Stephen; Aiden, Erez Lieberman; Allende, Miguel L. et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, 2022

• DOI för The Earth BioGenome Project 2020: Starting the clock
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Standards recommendations for the Earth BioGenome Project

Lawniczak, Mara K. N.; Durbin, Richard; Flicek, Paul; Lindblad-Toh, Kerstin et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, 2022

• DOI för Standards recommendations for the Earth BioGenome Project
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Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing

Sandling, Johanna K.; Pucholt, Pascal; Hultin-Rosenberg, Lina; Farias, Fabiana H. G. et al.

Ingår i Annals of the Rheumatic Diseases, s. 109-117, 2021

• DOI för Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing
• Ladda ner fulltext (pdf) av 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

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

Ingår i Rheumatology, s. 837-848, 2021

• DOI för Genetic and clinical basis for two distinct subtypes of primary Sjögren's syndrome
• Ladda ner fulltext (pdf) av 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

Yavuz, Sule; Bianchi, Matteo; Kozyrev, Sergey; Bolin, Karin et al.

Ingår i Annals of the Rheumatic Diseases, s. 404-406, 2021

• DOI för Toll-like receptors revisited: a possible role for TLR1 in lupus nephritis
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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

Axelsson, Erik; Ljungvall, Ingrid; Bhoumik, Priyasma; Conn, Laura Bas et al.

Ingår i PLOS Genetics, 2021

• DOI för 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

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

Ingår i Communications Biology, 2021

• DOI för 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

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

Ingår i Scientific Reports, 2021

• DOI för The ABCC4 gene is associated with pyometra in golden retriever dogs
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Genome-Wide Analyses for Osteosarcoma in Leonberger Dogs Reveal the CDKN2A/B Gene Locus as a Major Risk Locus

Letko, Anna; Minor, Katie M.; Norton, Elaine M.; Marinescu, Voichita et al.

Ingår i Genes, 2021

• DOI för Genome-Wide Analyses for Osteosarcoma in Leonberger Dogs Reveal the CDKN2A/B Gene Locus as a Major Risk Locus
• Ladda ner fulltext (pdf) av Genome-Wide Analyses for Osteosarcoma in Leonberger Dogs Reveal the CDKN2A/B Gene Locus as a Major Risk Locus

Identification and Functional Characterization of a Novel Susceptibility Locus for Small Vessel Vasculitis with MPO-ANCA

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

Ingår i Rheumatology, s. 3461-3470, 2021

• DOI för Identification and Functional Characterization of a Novel Susceptibility Locus for Small Vessel Vasculitis with MPO-ANCA
• Ladda ner fulltext (pdf) av 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

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

Ingår i Frontiers in Genetics, 2021

• DOI för Association of Protective HLA-A With HLA-B∗27 Positive Ankylosing Spondylitis
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Roan, ticked and clear coat patterns in the canine are associated with three haplotypes near usherin on CFA38

Brancalion, L.; Haase, B.; Mazrier, H.; Willet, C. E. et al.

Ingår i Animal Genetics, s. 198-207, 2021

• DOI för Roan, ticked and clear coat patterns in the canine are associated with three haplotypes near usherin on CFA38
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3D genomics across the tree of life reveals condensin II as a determinant of architecture type

Hoencamp, Claire; Dudchenko, Olga; Elbatsh, Ahmed M. O.; Brahmachari, Sumitabha et al.

Ingår i Science, s. 984-989, 2021

• DOI för 3D genomics across the tree of life reveals condensin II as a determinant of architecture type

How to make a rodent giant: Genomic basis and tradeoffs of gigantism in the capybara, the world's largest rodent

Herrera-Álvarez, Santiago; Karlsson, Elinor; Ryder, Oliver A; Lindblad-Toh, Kerstin et al.

Ingår i Molecular biology and evolution, s. 1715-1730, 2021

• DOI för How to make a rodent giant: Genomic basis and tradeoffs of gigantism in the capybara, the world's largest rodent
• Ladda ner fulltext (pdf) av How to make a rodent giant: Genomic basis and tradeoffs of gigantism in the capybara, the world's largest rodent

Genomically Complex Human Angiosarcoma and Canine Hemangiosarcoma Establish Convergent Angiogenic Transcriptional Programs Driven by Novel Gene Fusions

Kim, Jong Hyuk; Megquier, Kate; Thomas, Rachael; Sarver, Aaron L. et al.

Ingår i Molecular Cancer Research, s. 847-861, 2021

• DOI för Genomically Complex Human Angiosarcoma and Canine Hemangiosarcoma Establish Convergent Angiogenic Transcriptional Programs Driven by Novel Gene Fusions

SweHLA: the high confidence HLA typing bio-resource drawn from 1000 Swedish genomes

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

Ingår i European Journal of Human Genetics, s. 627-635, 2020

• DOI för 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.

Mataix-Cols, David; Hansen, Bjarne; Mattheisen, Manuel; Karlsson, Elinor K et al.

Ingår i American Journal of Medical Genetics Part B, s. 38-50, 2020

• DOI för Nordic OCD & Related Disorders Consortium: Rationale, design, and methods.

Transcriptomes from German shepherd dogs reveal differences in immune activity between atopic dermatitis affected and control skin

Tengvall, Katarina; Bergvall, K; Olsson, M; Ardesjö-Lundgren, Brita et al.

Ingår i Immunogenetics, s. 315-323, 2020

• DOI för 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

Armstrong, Joel; Hickey, Glenn; Diekhans, Mark; Fiddes, Ian T. et al.

Ingår i Nature, s. 246-251, 2020

• DOI för Progressive Cactus is a multiple-genome aligner for the thousand-genome era
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Whole-genome genotyping and resequencing reveal the association of a deletion in the complex interferon alpha gene cluster with hypothyroidism in dogs

Bianchi, Matteo; Rafati, Nima; Karlsson, Åsa; Murén, Eva et al.

Ingår i BMC Genomics, 2020

• DOI för 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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A comparative genomics multitool for scientific discovery and conservation

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

Ingår i Nature, s. 240-245, 2020

• DOI för A comparative genomics multitool for scientific discovery and conservation
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Targeted sequencing reveals the somatic mutation landscape in a Swedish breast cancer cohort

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

Ingår i Scientific Reports, 2020

• DOI för Targeted sequencing reveals the somatic mutation landscape in a Swedish breast cancer cohort
• Ladda ner fulltext (pdf) av Targeted sequencing reveals the somatic mutation landscape in a Swedish breast cancer cohort

Thoracolumbar meningeal fibrosis in pugs

Rohdin, Cecilia; Ljungvall, Ingrid; Häggström, Jens; Leijon, Alexandra et al.

Ingår i Journal of Veterinary Internal Medicine, s. 797-807, 2020

• DOI för Thoracolumbar meningeal fibrosis in pugs
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Broad host range of SARS-CoV-2 predicted by comparative and structural analysis of ACE2 in vertebrates

Damas, Joana; Hughes, Graham M.; Keough, Kathleen C.; Painter, Corrie A. et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, s. 22311-22322, 2020

• DOI för Broad host range of SARS-CoV-2 predicted by comparative and structural analysis of ACE2 in vertebrates
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Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes

Sakthikumar, Sharadha; Roy, Ananya; Haseeb, Lulu; Pettersson, Mats E. et al.

Ingår i Genome Biology, 2020

• DOI för Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes
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A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts

Farias, Fabiana H. G.; Dahlqvist, Johanna; Kozyrev, Sergey V.; Leonard, Dag et al.

Ingår i European Journal of Human Genetics, s. 432-441, 2019

• DOI för 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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Low guanylyl cyclase activity in Weddell seals: implications for peripheral vasoconstriction and perfusion of the brain during diving

Hindle, Allyson G.; Allen, Kaitlin N.; Batten, Annabelle J.; Huckastadt, Luis A. et al.

Ingår i American Journal of Physiology. Regulatory Integrative and Comparative Physiology, 2019

• DOI för Low guanylyl cyclase activity in Weddell seals: implications for peripheral vasoconstriction and perfusion of the brain during diving

Aquatic Adaptation and Depleted Diversity: A Deep Dive into the Genomes of the Sea Otter and Giant Otter.

Beichman, Annabel C; Koepfli, Klaus-Peter; Li, Gang; Murphy, William et al.

Ingår i Molecular biology and evolution, s. 2631-2655, 2019

• DOI för Aquatic Adaptation and Depleted Diversity: A Deep Dive into the Genomes of the Sea Otter and Giant Otter.

Genome-Wide Analysis of Long Non-Coding RNA Profiles in Canine Oral Melanomas

Hitte, Christophe; Le Beguec, Celine; Cadieu, Edouard; Wucher, Valentin et al.

Ingår i Genes, 2019

• DOI för Genome-Wide Analysis of Long Non-Coding RNA Profiles in Canine Oral Melanomas
• Ladda ner fulltext (pdf) av Genome-Wide Analysis of Long Non-Coding RNA Profiles in Canine Oral Melanomas

BarkBase: Epigenomic Annotation of Canine Genomes

Megquier, Kate; Genereux, Diane P.; Hekman, Jessica; Swofford, Ross et al.

Ingår i Genes, 2019

• DOI för BarkBase: Epigenomic Annotation of Canine Genomes
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A quantitative framework for characterizing the evolutionary history of mammalian gene expression

Chen, Jenny; Swofford, Ross; Johnson, Jeremy; Cummings, Beryl B. et al.

Ingår i Genome Research, s. 53-63, 2019

• DOI för A quantitative framework for characterizing the evolutionary history of mammalian gene expression
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Dog10K: an international sequencing effort to advance studies of canine domestication, phenotypes and health

Ostrander, Elaine A; Wang, Guo-Dong; Larson, Greger; vonHoldt, Bridgett M et al.

Ingår i National Science Review, s. 810-824, 2019

• DOI för Dog10K: an international sequencing effort to advance studies of canine domestication, phenotypes and health

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

Biasoli, Deborah; Compston-Garnett, Lara; Ricketts, Sally L.; Birand, Zeynep et al.

Ingår i PLOS Genetics, 2019

• DOI för 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
• Ladda ner fulltext (pdf) av 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.

Casewell, Nicholas R; Petras, Daniel; Card, Daren C; Suranse, Vivek et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, s. 25745-25755, 2019

• DOI för Solenodon genome reveals convergent evolution of venom in eulipotyphlan mammals.
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Comparative Genomics Reveals Shared Mutational Landscape in Canine Hemangiosarcoma and Human Angiosarcoma

Megquier, Katherine; Turner-Maier, Jason; Swofford, Ross; Kim, Jong-Hyuk et al.

Ingår i Molecular Cancer Research, s. 2410-2421, 2019

• DOI för Comparative Genomics Reveals Shared Mutational Landscape in Canine Hemangiosarcoma and Human Angiosarcoma

Cytokine Autoantibody Screening in the Swedish Addison Registry Identifies Patients With Undiagnosed APS1

Eriksson, Daniel; Dalin, Frida; Eriksson, Gabriel Nordling; Landegren, Nils et al.

Ingår i Journal of Clinical Endocrinology and Metabolism, s. 179-186, 2018

• DOI för Cytokine Autoantibody Screening in the Swedish Addison Registry Identifies Patients With Undiagnosed APS1
• Ladda ner fulltext (pdf) av Cytokine Autoantibody Screening in the Swedish Addison Registry Identifies Patients With Undiagnosed APS1

Genetic basis and clinical evidence for two variants of primary Sjögren's syndrome with distinct outcomes

Thorlacius, Gudny Ella; Hultin-Rosenberg, Lina; Sandling, Johanna K.; Imgenberg-Kreuz, Juliana et al.

Ingår i Clinical and Experimental Rheumatology, 2018

The risk allele A of rs200395694 associated with SLE in Swedish patients affects on MEF2D gene regulation and alternative splicing

Abramov, Sergei; Kozyrev, Sergey V.; Farias, Fabiana H. G.; Dahlqvist, Johanna et al.

Ingår i Human Gene Therapy, 2018

SETD2 Is Recurrently Mutated in Whole-Exome Sequenced Canine Osteosarcoma

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

Ingår i Cancer Research, s. 3421-3431, 2018

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

Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden

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

Ingår i Scientific Reports, 2018

• DOI för Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden
• Ladda ner fulltext (pdf) av 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

Bremer, Hanna D.; Landegren, Nils; Sjöberg, Ronald; Hallgren, Åsa et al.

Ingår i Scientific Reports, 2018

• DOI för ILF2 and ILF3 are autoantigens in canine systemic autoimmune disease
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Presence of thoracic and lumbar vertebral malformations in pugs with and without chronic neurological deficits

Rohdin, C.; Haggstrom, J.; Ljungvall, I.; Lee, H. Nyman et al.

Ingår i The Veterinary Journal, s. 24-30, 2018

• DOI för Presence of thoracic and lumbar vertebral malformations in pugs with and without chronic neurological deficits

A comprehensive genomic history of extinct and living elephants

Palkopoulou, Eleftheria; Lipson, Mark; Mallick, Swapan; Nielsen, Svend et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, 2018

• DOI för A comprehensive genomic history of extinct and living elephants

High prevalence of gait abnormalities in pugs

Rohdin, Cecilia; Jäderlund, Karin Hultin; Ljungvall, Ingrid; Lindblad-Toh, Kerstin et al.

Ingår i The Veterinary Record, 2018

• DOI för High prevalence of gait abnormalities in pugs
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Integrating evolutionary and regulatory information with multispecies approach implicates genes and pathways in obsessive-compulsive disorder

Noh, Hyun Ji; Tang, Ruqi; Flannick, Jason; O'Dushlaine, Colm et al.

Ingår i Nature Communications, 2017

• DOI för Integrating evolutionary and regulatory information with multispecies approach implicates genes and pathways in obsessive-compulsive disorder
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An exome sequencing based approach for genome-wide association studies in the dog

Broeckx, Bart J. G.; Derrien, Thomas; Mottier, Stephanie; Wucher, Valentin et al.

Ingår i Scientific Reports, 2017

• DOI för An exome sequencing based approach for genome-wide association studies in the dog
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Comparison of cellular location and expression of Plakophilin-2 in epidermal cells from nonlesional atopic skin and healthy skin in German shepherd dogs

Ardesjö-Lundgren, Brita; Tengvall, Katarina; Bergvall, Kerstin; Farias, Fabiana H. G. et al.

Ingår i Veterinary dermatology (Print), s. 377-e88, 2017

• DOI för 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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Biovupsych: Electronic Medical Record-Based Identification of Dna Samples for Disorders Under-Represented n The'Pgc

Soda, Takahiro; Crowley, James; Breen, Gerome; Bulik, Cynthia et al.

Ingår i European Neuropsychopharmacology, 2017

Safe and Effective Sarcoma Therapy through Bispecific Targeting of EGFR and uPAR.

Borgatti, Antonella; Koopmeiners, Joseph S; Sarver, Aaron L; Winter, Amber L et al.

Ingår i Molecular Cancer Therapeutics, s. 956-965, 2017

• DOI för Safe and Effective Sarcoma Therapy through Bispecific Targeting of EGFR and uPAR.

Interactions between CXCR4 and CXCL12 promote cell migration and invasion of canine hemangiosarcoma

Im, K S; Graef, A J; Breen, M; Lindblad-Toh, Kerstin et al.

Ingår i Veterinary and Comparative Oncology, s. 315-327, 2017

• DOI för Interactions between CXCR4 and CXCL12 promote cell migration and invasion of canine hemangiosarcoma

FEELnc: a tool for long non-coding RNA annotation and its application to the dog transcriptome

Wucher, Valentin; Legeai, Fabrice; Hédan, Benoît; Rizk, Guillaume et al.

Ingår i Nucleic Acids Research, 2017

• DOI för FEELnc: a tool for long non-coding RNA annotation and its application to the dog transcriptome
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Constitutive activation of alternative nuclear factor kappa B pathway in canine diffuse large B-cell lymphoma contributes to tumor cell survival and is a target of new adjuvant therapies

Seelig, Davis M; Ito, Daisuke; Forster, Colleen L; Yoon, Una A et al.

Ingår i Leukemia and Lymphoma, s. 1702-1710, 2017

• DOI för Constitutive activation of alternative nuclear factor kappa B pathway in canine diffuse large B-cell lymphoma contributes to tumor cell survival and is a target of new adjuvant therapies

Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression

Cavalli, Marco; Pan, Gang; Nord, Helena; Wallerman, Ola et al.

Ingår i Human Genetics, s. 485-497, 2016

• DOI för Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression
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An Improved microRNA Annotation of the Canine Genome

Penso-Dolfin, Luca; Swofford, Ross; Johnson, Jeremy; Alfoldi, Jessica et al.

Ingår i PLOS ONE, 2016

• DOI för An Improved microRNA Annotation of the Canine Genome
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Absolute quantification reveals the stable transmission of a high copy number variant linked to autoinflammatory disease

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

Ingår i BMC Genomics, 2016

• DOI för Absolute quantification reveals the stable transmission of a high copy number variant linked to autoinflammatory disease
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The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons

Braasch, Ingo; Gehrke, Andrew R.; Smith, Jeramiah J.; Kawasaki, Kazuhiko et al.

Ingår i Nature Genetics, s. 427-437, 2016

• DOI för The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons
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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

Tengvall, Katarina; Kozyrev, Sergey; Kierczak, Marcin; Bergvall, Kerstin et al.

Ingår i BMC Genetics, 2016

• DOI för 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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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

Truve, Katarina; Dickinson, Peter; Xiong, Anqi; York, Daniel et al.

Ingår i PLOS Genetics, 2016

• DOI för 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
• Ladda ner fulltext (pdf) av 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

Melin, Malin; Rivera, Patricio; Arendt, Maja; Elvers, Ingegerd et al.

Ingår i PLOS Genetics, 2016

• DOI för Genome-Wide Analysis Identifies Germ-Line Risk Factors Associated with Canine Mammary Tumours
• Ladda ner fulltext (pdf) av Genome-Wide Analysis Identifies Germ-Line Risk Factors Associated with Canine Mammary Tumours

Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation underlying Dun camouflage colour in horses

Imsland, Freyja; McGowan, Kelly; Rubin, Carl-Johan; Henegar, Corneliu et al.

Ingår i Nature Genetics, s. 152-158, 2016

• DOI för Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation underlying Dun camouflage colour in horses

Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease

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

Ingår i Journal of Internal Medicine, s. 595-608, 2016

• DOI för 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

Ivansson, Emma L.; Megquier, Kate; Kozyrev, Sergey V.; Murén, Eva et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, 2016

• DOI för Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy

A Deletion in the Canine POMC Gene Is Associated with Weight and Appetite in Obesity-Prone Labrador Retriever Dogs

Raffan, Eleanor; Dennis, Rowena J.; O'Donovan, Conor J.; Becker, Julia M. et al.

Ingår i Cell Metabolism, s. 893-900, 2016

• DOI för A Deletion in the Canine POMC Gene Is Associated with Weight and Appetite in Obesity-Prone Labrador Retriever Dogs
• Ladda ner fulltext (pdf) av A Deletion in the Canine POMC Gene Is Associated with Weight and Appetite in Obesity-Prone Labrador Retriever Dogs

Effect of Breed on Plasma Endothelin-1 Concentration, Plasma Renin Activity, and Serum Cortisol Concentration in Healthy Dogs

Höglund, K.; Lequarre, A. -S; Ljungvall, I.; Mc Entee, K. et al.

Ingår i Journal of Veterinary Internal Medicine, s. 566-573, 2016

• DOI för Effect of Breed on Plasma Endothelin-1 Concentration, Plasma Renin Activity, and Serum Cortisol Concentration in Healthy Dogs
• Ladda ner fulltext (pdf) av Effect of Breed on Plasma Endothelin-1 Concentration, Plasma Renin Activity, and Serum Cortisol Concentration in Healthy Dogs

Exome sequencing of lymphomas from three dog breeds reveals somatic mutation patterns reflecting genetic background

Elvers, Ingegerd; Turner-Maier, Jason; Swofford, Ross; Koltookian, Michele et al.

Ingår i Genome Research, s. 1634-1645, 2015

• DOI för Exome sequencing of lymphomas from three dog breeds reveals somatic mutation patterns reflecting genetic background
• Ladda ner fulltext (pdf) av Exome sequencing of lymphomas from three dog breeds reveals somatic mutation patterns reflecting genetic background

Genome-Wide Analyses Suggest Mechanisms Involving Early B-cell Development in Canine IgA Deficiency

Olsson, Mia; Tengvall, Katarina; Frankowiack, Marcel; Kierczak, Marcin et al.

Ingår i PLOS ONE, 2015

• DOI för Genome-Wide Analyses Suggest Mechanisms Involving Early B-cell Development in Canine IgA Deficiency
• Ladda ner fulltext (pdf) av Genome-Wide Analyses Suggest Mechanisms Involving Early B-cell Development in Canine IgA Deficiency

Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease

Wilbe, Maria; Kozyrev, Sergey V.; Farias, Fabiana H. G.; Bremer, Hanna D. et al.

Ingår i PLOS Genetics, 2015

• DOI för Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease
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cgmisc: Enhanced Genome-wide Association Analyses and Visualisation

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

Ingår i Bioinformatics, s. 3830-3831, 2015

• DOI för cgmisc: Enhanced Genome-wide Association Analyses and Visualisation
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Improved canine exome designs, featuring ncRNAs and increased coverage of protein coding genes

Broeckx, Bart J. G.; Hitte, Christophe; Coopman, Frank; Verhoeven, Geert E. C. et al.

Ingår i Scientific Reports, 2015

• DOI för Improved canine exome designs, featuring ncRNAs and increased coverage of protein coding genes
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Convergent evolution of the genomes of marine mammals

Foote, Andrew D.; Liu, Yue; Thomas, Gregg W. C.; Vinar, Tomas et al.

Ingår i Nature Genetics, s. 272-275, 2015

• DOI för Convergent evolution of the genomes of marine mammals

Genome-wide Association Study Identifies Shared Risk Loci Common to Two Malignancies in Golden Retrievers

Tonomura, Noriko; Elvers, Ingegerd; Thomas, Rachael; Megquier, Kate et al.

Ingår i PLOS Genetics, 2015

• DOI för Genome-wide Association Study Identifies Shared Risk Loci Common to Two Malignancies in Golden Retrievers
• Ladda ner fulltext (pdf) av Genome-wide Association Study Identifies Shared Risk Loci Common to Two Malignancies in Golden Retrievers

Genome-Wide Association Study of Golden Retrievers Identifies Germ-Line Risk Factors Predisposing to Mast Cell Tumours

Arendt, Maja Louise; Melin, Malin; Tonomura, Noriko; Koltookian, Michele et al.

Ingår i PLOS Genetics, 2015

• DOI för Genome-Wide Association Study of Golden Retrievers Identifies Germ-Line Risk Factors Predisposing to Mast Cell Tumours
• Ladda ner fulltext (pdf) av 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

Webster, Matthew T.; Kamgari, Nona; Perloski, Michele; Höppner, Marc P. et al.

Ingår i BMC Genomics, 2015

• DOI för 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

Vieira, Natassia M.; Elvers, Ingegerd; Alexander, Matthew S.; Moreira, Yuri B. et al.

Ingår i Cell, s. 1204-1213, 2015

• DOI för Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype

The Shepherds' Tale: A Genome-Wide Study across 9 Dog Breeds Implicates Two Loci in the Regulation of Fructosamine Serum Concentration in Belgian Shepherds

Forsberg, Simon K. G.; Kierczak, Marcin; Ljungvall, Ingrid; Merveille, Anne-Christine et al.

Ingår i PLOS ONE, 2015

• DOI för 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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Genomic profiling reveals extensive heterogeneity in somatic DNA copy number aberrations of canine hemangiosarcoma

Thomas, Rachael; Borst, Luke; Rotroff, Daniel; Motsinger-Reif, Alison et al.

Ingår i Chromosome Research, s. 305-319, 2014

• DOI för Genomic profiling reveals extensive heterogeneity in somatic DNA copy number aberrations of canine hemangiosarcoma

High-Throughput Sequencing of 219 Candidate Genes for Identification of SLE-Associated Risk Variants

Farias, Fabiana; Wilbe, Maria; Dahlqvist, Johanna; Leonard, Dag et al.

Ingår i Arthritis & Rheumatology, 2014

Canine Hereditary Ataxia in Old English Sheepdogs and Gordon Setters Is Associated with a Defect in the Autophagy Gene Encoding RAB24

Agler, Caryline; Nielsen, Dahlia M.; Urkasemsin, Ganokon; Singleton, Andrew et al.

Ingår i PLOS Genetics, 2014

• DOI för 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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Amylase activity is associated with AMY2B copy numbers in dog: implications for dog domestication, diet and diabetes

Arendt, Maja; Fall, Tove; Lindblad-Toh, Kerstin; Axelsson, Erik

Ingår i Animal Genetics, s. 716-722, 2014

• DOI för Amylase activity is associated with AMY2B copy numbers in dog: implications for dog domestication, diet and diabetes

Rabbit genome analysis reveals a polygenic basis for phenotypic change during domestication

Carneiro, Miguel; Rubin, Carl-Johan; Di Palma, Federica; Albert, Frank W. et al.

Ingår i Science, s. 1074-1079, 2014

• DOI för Rabbit genome analysis reveals a polygenic basis for phenotypic change during domestication

Genome-wide copy number variant discovery in dogs using the CanineHD genotyping array

Molin, Anna-Maja; Berglund, Jonas; Webster, Matthew T.; Lindblad-Toh, Kerstin

Ingår i BMC Genomics, s. 210, 2014

• DOI för Genome-wide copy number variant discovery in dogs using the CanineHD genotyping array
• Ladda ner fulltext (pdf) av Genome-wide copy number variant discovery in dogs using the CanineHD genotyping array

The dog as a genetic model for immunoglobulin A (IgA) deficiency: Identification of several breeds with low serum IgA concentrations

Olsson, Mia; Frankowiack, Marcel; Tengvall, Katarina; Roosje, Petra et al.

Ingår i Veterinary Immunology and Immunopathology, s. 255-259, 2014

• DOI för The dog as a genetic model for immunoglobulin A (IgA) deficiency: Identification of several breeds with low serum IgA concentrations

A Simple Repeat Polymorphism in the MITF-M Promoter Is a Key Regulator of White Spotting in Dogs

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

Ingår i PLOS ONE, 2014

• DOI för A Simple Repeat Polymorphism in the MITF-M Promoter Is a Key Regulator of White Spotting in Dogs
• Ladda ner fulltext (pdf) av 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

Ahlgren, Kerstin M; Fall, Tove; Landegren, Nils; Grimelius, Lars et al.

Ingår i PLOS ONE, 2014

• DOI för Lack of evidence for a role of islet autoimmunity in the aetiology of canine diabetes mellitus
• Ladda ner fulltext (pdf) av 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

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

Ingår i PLOS ONE, 2014

• DOI för An Improved Canine Genome and a Comprehensive Catalogue of Coding Genes and Non-Coding Transcripts
• Ladda ner fulltext (pdf) av 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

Brawand, David; Wagner, Catherine E.; Li, Yang I.; Malinsky, Milan et al.

Ingår i Nature, s. 375-381, 2014

• DOI för The genomic substrate for adaptive radiation in African cichlid fish

The draft genome sequence of the ferret (Mustela putorius furo) facilitates study of human respiratory disease

Peng, Xinxia; Alfoeldi, Jessica; Gori, Kevin; Eisfeld, Amie J. et al.

Ingår i Nature Biotechnology, s. 1250-U114, 2014

• DOI för The draft genome sequence of the ferret (Mustela putorius furo) facilitates study of human respiratory disease
• Ladda ner fulltext (pdf) av 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

Zeng, R.; Coates, J. R.; Johnson, G. C.; Hansen, L. et al.

Ingår i Journal of Veterinary Internal Medicine, s. 515-521, 2014

• DOI för Breed Distribution of SOD1 Alleles Previously Associated with Canine Degenerative Myelopathy
• Ladda ner fulltext (pdf) av Breed Distribution of SOD1 Alleles Previously Associated with Canine Degenerative Myelopathy

Breed Differences in Natriuretic Peptides in Healthy Dogs

Sjoestrand, K.; Wess, G.; Ljungvall, I.; Haggstrom, J. et al.

Ingår i Journal of Veterinary Internal Medicine, s. 451-457, 2014

• DOI för Breed Differences in Natriuretic Peptides in Healthy Dogs

Identification of Three Molecular and Functional Subtypes in Canine Hemangiosarcoma through Gene Expression Profiling and Progenitor Cell Characterization

Gorden, Brandi H.; Kim, Jong-Hyuk; Sarver, Aaron L.; Frantz, Aric M. et al.

Ingår i American Journal of Pathology, s. 985-995, 2014

• DOI för Identification of Three Molecular and Functional Subtypes in Canine Hemangiosarcoma through Gene Expression Profiling and Progenitor Cell Characterization

Candidate genes and functional noncoding variants identified in a canine model of obsessive-compulsive disorder

Tang, Ruqi; Noh, Hyun Ji; Wang, Dongqing; Sigurdsson, Snaevar et al.

Ingår i Genome Biology, 2014

• DOI för Candidate genes and functional noncoding variants identified in a canine model of obsessive-compulsive disorder
• Ladda ner fulltext (pdf) av Candidate genes and functional noncoding variants identified in a canine model of obsessive-compulsive disorder

The Naked Mole Rat Genome Resource: facilitating analyses of cancer and longevity-related adaptations

Keane, Michael; Craig, Thomas; Alfoldi, Jessica; Berlin, Aaron M et al.

Ingår i Bioinformatics, s. 3558-3560, 2014

• DOI för The Naked Mole Rat Genome Resource: facilitating analyses of cancer and longevity-related adaptations
• Ladda ner fulltext (pdf) av The Naked Mole Rat Genome Resource: facilitating analyses of cancer and longevity-related adaptations

Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B

Karlsson, Elinor K; Sigurdsson, Snaevar; Ivansson, Emma; Thomas, Rachael et al.

Ingår i Genome Biology, 2013

• DOI för Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B
• Ladda ner fulltext (pdf) av Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B

Genome-Wide Analysis in German Shepherd Dogs Reveals Association of a Locus on CFA 27 with Atopic Dermatitis

Tengvall, Katarina; Kierczak, Marcin; Bergvall, Kerstin; Olsson, Mia et al.

Ingår i PLOS Genetics, 2013

• DOI för Genome-Wide Analysis in German Shepherd Dogs Reveals Association of a Locus on CFA 27 with Atopic Dermatitis
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Unsupervised genome-wide recognition of local relationship patterns

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

Ingår i BMC Genomics, s. 347, 2013

• DOI för Unsupervised genome-wide recognition of local relationship patterns
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Genome reannotation of the lizard Anolis carolinensis based on 14 adult and embryonic deep transcriptomes

Eckalbar, Walter L.; Hutchins, Elizabeth D.; Markov, Glenn J.; Allen, April N. et al.

Ingår i BMC Genomics, s. 49, 2013

• DOI för Genome reannotation of the lizard Anolis carolinensis based on 14 adult and embryonic deep transcriptomes
• Ladda ner fulltext (pdf) av 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

Borge, Kaja Sverdrup; Melin, Malin; Rivera, Patricio; Thoresen, Stein Istre et al.

Ingår i BMC Veterinary Research, s. 69, 2013

• DOI för The ESR1 gene is associated with risk for canine mammary tumours
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Thorough investigation of a canine autoinflammatory disease (AID) syndrome confirms one main risk factor and suggests a modifier locus for amyloidosis

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

Ingår i PLOS ONE, 2013

• DOI för Thorough investigation of a canine autoinflammatory disease (AID) syndrome confirms one main risk factor and suggests a modifier locus for amyloidosis
• Ladda ner fulltext (pdf) av 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

Axelsson, Erik; Ratnakumar, Abhirami; Arendt, Maja Louise; Maqbool, Khurram et al.

Ingår i Nature, s. 360-364, 2013

• DOI för The genomic signature of dog domestication reveals adaptation to a starch-rich diet

Comparative genomics as a tool to understand evolution and disease

Alfoeldi, Jessica; Lindblad-Toh, Kerstin

Ingår i Genome Research, s. 1063-1068, 2013

• DOI för Comparative genomics as a tool to understand evolution and disease
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Molecular Profiling Reveals Prognostically Significant Subtypes of Canine Lymphoma

Frantz, A M; Sarver, A L; Ito, D; Phang, T L et al.

Ingår i Veterinary pathology, s. 693-703, 2013

• DOI för Molecular Profiling Reveals Prognostically Significant Subtypes of Canine Lymphoma

The African coelacanth genome provides insights into tetrapod evolution

Amemiya, Chris T.; Alfoeldi, Jessica; Lee, Alison P.; Fan, Shaohua et al.

Ingår i Nature, s. 311-316, 2013

• DOI för The African coelacanth genome provides insights into tetrapod evolution

IgA deficiency in wolves

Frankowiack, Marcel; Hellman, Lars; Zhao, Yaofeng; Arnemo, Jon M. et al.

Ingår i Developmental and Comparative Immunology, s. 180-184, 2013

• DOI för IgA deficiency in wolves

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Kirby, Andrew; Gnirke, Andreas; Jaffe, David B.; Baresova, Veronika et al.

Ingår i Nature Genetics, s. 299-303, 2013

• DOI för Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Hyaluronic Acid is a Marker of Active Arthritis, but not Systemic Inflammation in Systemic Juvenile Idiopathic Arthritis

Hugle, B.; Olsson, M.; Fischer, N.; Herrmann, M. et al.

Ingår i Annals of the Rheumatic Diseases, s. 728-728, 2013

• DOI för Hyaluronic Acid is a Marker of Active Arthritis, but not Systemic Inflammation in Systemic Juvenile Idiopathic Arthritis

A High Density SNP Array for the Domestic Horse and Extant Perissodactyla: Utility for Association Mapping, Genetic Diversity, and Phylogeny Studies

McCue, Molly E.; Bannasch, Danika L.; Petersen, Jessica L.; Gurr, Jessica et al.

Ingår i PLOS Genetics, 2012

• DOI för 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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A splice site mutation in a gene encoding for PDK4, a mitochondrial protein, is associated with the development of dilated cardiomyopathy in the Doberman pinscher

Meurs, Kathryn M; Lahmers, Sunshine; Keene, Bruce W; White, Stephen N et al.

Ingår i Human Genetics, s. 1319-1325, 2012

• DOI för A splice site mutation in a gene encoding for PDK4, a mitochondrial protein, is associated with the development of dilated cardiomyopathy in the Doberman pinscher

Copy number expansion of the STX17 duplication in melanoma tissue from Grey horses

Sundström, Elisabeth; Imsland, Freyja; Mikko, Sofia; Wade, Claire et al.

Ingår i BMC Genomics, s. 365, 2012

• DOI för 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

Das, Radhika; Anderson, Nathan; Koran, MaryEllen I.; Weidman, Jennifer R. et al.

Ingår i BMC Genomics, s. 394, 2012

• DOI för 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

Sundström, Elisabeth; Imsland, Freyja; Mikko, Sofia; Wade, Claire et al.

Ingår i BMC Genomics, s. 365, 2012

• DOI för 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

Owczarek-Lipska, Marta; Lauber, Béatrice; Molitor, Vivianne; Meury, Sabrina et al.

Ingår i PLOS ONE, 2012

• DOI för 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

Larson, Greger; Karlsson, Elinor K; Perri, Angela; Webster, Matthew T et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, s. 8878-8883, 2012

• DOI för Rethinking dog domestication by integrating genetics, archeology, and biogeography

The genomic basis of adaptive evolution in threespine sticklebacks

Jones, Felicity C.; Grabherr, Manfred G.; Chan, Yingguang Frank; Russell, Pamela et al.

Ingår i Nature, s. 55-61, 2012

• DOI för The genomic basis of adaptive evolution in threespine sticklebacks

Novel origins of copy number variation in the dog genome

Berglund, Jonas; Nevalainen, Elisa M; Molin, Anna-Maja; Perloski, Michele et al.

Ingår i Genome Biology, 2012

• DOI för 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

Axelsson, Erik; Webster, Matthew T.; Ratnakumar, Abhirami; Ponting, Chris P. et al.

Ingår i Genome Research, s. 51-63, 2011

• DOI för Death of PRDM9 coincides with stabilization of the recombination landscape in the dog genome

Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping

Vaysse, Amaury; Ratnakumar, Abhirami; Derrien, Thomas; Axelsson, Erik et al.

Ingår i PLOS Genetics, 2011

• DOI för Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping
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Comparison of buccal and blood-derived canine DNA, either native or whole genome amplified, for array-based genome-wide association studies

Rincon, Gonzalo; Tengvall, Katarina; Belanger, Janelle M; Lagoutte, Laetitia et al.

Ingår i BMC Research Notes, s. 226, 2011

• DOI för Comparison of buccal and blood-derived canine DNA, either native or whole genome amplified, for array-based genome-wide association studies

Performance of Microarray and Liquid Based Capture Methods for Target Enrichment for Massively Parallel Sequencing and SNP Discovery

Kiialainen, Anna; Karlberg, Olof; Ahlford, Annika; Sigurdsson, Snaevar et al.

Ingår i PLoS ONE, 2011

• DOI för Performance of Microarray and Liquid Based Capture Methods for Target Enrichment for Massively Parallel Sequencing and SNP Discovery

Molecular subtypes of osteosarcoma identified by reducing tumor heterogeneity through an interspecies comparative approach

Scott, Milcah C.; Sarver, Aaron L.; Gavin, Katherine J.; Thayanithy, Venugopal et al.

Ingår i Bone, s. 356-367, 2011

• DOI för Molecular subtypes of osteosarcoma identified by reducing tumor heterogeneity through an interspecies comparative approach

Refining tumor-associated aneuploidy through 'genomic recoding' of recurrent DNA copy number aberrations in 150 canine non-Hodgkin lymphomas

Thomas, Rachael; Seiser, Eric L.; Motsinger-Reif, Alison; Borst, Luke et al.

Ingår i Leukemia and Lymphoma, s. 1321-1335, 2011

• DOI för Refining tumor-associated aneuploidy through 'genomic recoding' of recurrent DNA copy number aberrations in 150 canine non-Hodgkin lymphomas

Exploiting Nucleotide Composition to Engineer Promoters

Grabherr, Manfred G.; Pontiller, Jens; Mauceli, Evan; Ernst, Wolfgang et al.

Ingår i PLoS One, 2011

• DOI för Exploiting Nucleotide Composition to Engineer Promoters

A Frameshift Mutation in Golden Retriever Dogs with Progressive Retinal Atrophy Endorses SLC4A3 as a Candidate Gene for Human Retinal Degenerations

Downs, Louise M.; Wallin-Hakansson, Berit; Boursnell, Mike; Marklund, Stefan et al.

Ingår i PLoS one, 2011

• DOI för A Frameshift Mutation in Golden Retriever Dogs with Progressive Retinal Atrophy Endorses SLC4A3 as a Candidate Gene for Human Retinal Degenerations

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

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

Ingår i PLoS Genetics, 2011

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

The genome of the green anole lizard and a comparative analysis with birds and mammals

Alfoeldi, Jessica; Di Palma, Federica; Grabherr, Manfred; Williams, Christina et al.

Ingår i Nature, s. 587-591, 2011

• DOI för The genome of the green anole lizard and a comparative analysis with birds and mammals

Full-length transcriptome assembly from RNA-Seq data without a reference genome

Grabherr, Manfred G; Yassour, Moran; Haas, Brian J; Levin, Joshua Z et al.

Ingår i Nature Biotechnology, s. 644-652, 2011

• DOI för Full-length transcriptome assembly from RNA-Seq data without a reference genome

Three periods of regulatory innovation during vertebrate evolution

Lowe, Craig B; Kellis, Manolis; Siepel, Adam; Raney, Brian J et al.

Ingår i Science, s. 1019-1024, 2011

• DOI för Three periods of regulatory innovation during vertebrate evolution

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers

Farias, Fabiana H. G.; Zeng, Rong; Johnson, Gary S.; Wininger, Fred A. et al.

Ingår i Neurobiology of Disease, s. 468-474, 2011

• DOI för A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers

Mutation discovery in mice by whole exome sequencing

Fairfield, Heather; Gilbert, Griffith J; Barter, Mary; Corrigan, Rebecca R et al.

Ingår i Genome Biology, 2011

• DOI för Mutation discovery in mice by whole exome sequencing

A high-resolution map of human evolutionary constraint using 29 mammals

Lindblad-Toh, Kerstin; Garber, Manuel; Zuk, Or; Lin, Michael F. et al.

Ingår i Nature, s. 476-482, 2011

• DOI för A high-resolution map of human evolutionary constraint using 29 mammals

LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs

Seppala, Eija H.; Jokinen, Tarja S.; Fukata, Masaki; Fukata, Yuko et al.

Ingår i PLoS Genetics, 2011

• DOI för LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs

Comparative physical maps derived from BAC end sequences of tilapia (Oreochromis niloticus).

Soler, Lucile; Conte, Matthew A; Katagiri, Takayuki; Howe, Aimee E et al.

Ingår i BMC Genomics, 2010

• DOI för Comparative physical maps derived from BAC end sequences of tilapia (Oreochromis niloticus).

Whole genome resequencing reveals loci under selection during chicken domestication

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

Ingår i Nature, s. 587-591, 2010

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

Genome-wide synteny through highly sensitive sequence alignment: Satsuma

Grabherr, Manfred G; Russell, Pamela; Meyer, Miriah; Mauceli, Evan et al.

Ingår i Bioinformatics, s. 1145-1151, 2010

• DOI för Genome-wide synteny through highly sensitive sequence alignment: Satsuma

High resolution mapping and positional cloning of ENU-induced mutations in the Rw region of mouse chromosome 5

Ching, Yung-Hao; Munroe, Robert J.; Moran, Jennifer L.; Barker, Anna K. et al.

Ingår i BMC Genetics, s. 106, 2010

• DOI för High resolution mapping and positional cloning of ENU-induced mutations in the Rw region of mouse chromosome 5

ZBED6: the birth of a new transcription factor in the common ancestor of placental mammals

Andersson, Leif; Andersson, Göran; Hjälm, Göran; Jiang, Lin et al.

Ingår i Transcription, s. 144-148, 2010

• DOI för ZBED6: the birth of a new transcription factor in the common ancestor of placental mammals

Fine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and congenital stationary night blindness in horses

Bellone, Rebecca R; Forsyth, George; Leeb, Tosso; Archer, Sheila et al.

Ingår i Briefings in Functional Genomics & Proteomics, s. 193-207, 2010

• DOI för Fine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and congenital stationary night blindness in horses

Diabetes Mellitus in Elkhounds Is Associated with Diestrus and Pregnancy

Fall, Tove; Hedhammar, A; Wallberg, A; Fall, N et al.

Ingår i Journal of Veterinary Internal Medicine, s. 1322-1328, 2010

• DOI för Diabetes Mellitus in Elkhounds Is Associated with Diestrus and Pregnancy
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A canine chromosome 7 locus confers compulsive disorder susceptibility

Dodman, N. H.; Karlsson, E. K.; Moon-Fanelli, A.; Galdzicka, M. et al.

Ingår i Molecular Psychiatry, s. 8-10, 2010

• DOI för A canine chromosome 7 locus confers compulsive disorder susceptibility

Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex.

Wilbe, Maria; Jokinen, Päivi; Truvé, Katarina; Seppala, Eija H et al.

Ingår i Nature Genetics, s. 250-254, 2010

• DOI för Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex.

Association of dopamine- and serotonin-related genes with canine aggression

Våge, J.; Wade, C.; Biagi, T.; Fatjó, J. et al.

Ingår i Genes, Brain and Behavior, s. 372-378, 2010

• DOI för Association of dopamine- and serotonin-related genes with canine aggression

Genome-wide association identifies a deletion in the 3' untranslated region of Striatin in a canine model of arrhythmogenic right ventricular cardiomyopathy

Meurs, Kathryn M.; Mauceli, Evan; Lahmers, Sunshine; Acland, Gregory M. et al.

Ingår i Human Genetics, s. 315-324, 2010

• DOI för Genome-wide association identifies a deletion in the 3' untranslated region of Striatin in a canine model of arrhythmogenic right ventricular cardiomyopathy

Localization of canine brachycephaly using an across breed mapping approach

Bannasch, Danika; Young, Amy; Myers, Jeffrey; Truvé, Katarina et al.

Ingår i PLoS ONE, 2010

• DOI för Localization of canine brachycephaly using an across breed mapping approach

A deletion in the N-myc downstream regulated gene 1 (NDRG1) gene in Greyhounds with polyneuropathy

Drögemüller, Cord; Becker, Doreen; Kessler, Barbara; Kemter, Elisabeth et al.

Ingår i PloS one, 2010

• DOI för A deletion in the N-myc downstream regulated gene 1 (NDRG1) gene in Greyhounds with polyneuropathy

DLA Class II Alleles Are Associated with Risk for Canine Symmetrical Lupoid Onychodystropy (SLO)

Wilbe, Maria; Ziener, Martine Lund; Aronsson, Anita; Harlos, Charlotte et al.

Ingår i PLoS ONE, 2010

• DOI för DLA Class II Alleles Are Associated with Risk for Canine Symmetrical Lupoid Onychodystropy (SLO)

Identification of the Bovine Arachnomelia Mutation by Massively Parallel Sequencing Implicates Sulfite Oxidase (SUOX) in Bone Development

Droegemueller, Cord; Tetens, Jens; Sigurdsson, Snaevar; Gentile, Arcangelo et al.

Ingår i PLoS Genetics, 2010

• DOI för Identification of the Bovine Arachnomelia Mutation by Massively Parallel Sequencing Implicates Sulfite Oxidase (SUOX) in Bone Development

ZBED6, a novel transcription factor derived from a domesticated DNA transposon regulates IGF2 expression and muscle growth

Markljung, Ellen; Jiang, Lin; Jaffe, Jacob D.; Mikkelsen, Tarjei S. et al.

Ingår i PLoS biology, 2009

• DOI för ZBED6, a novel transcription factor derived from a domesticated DNA transposon regulates IGF2 expression and muscle growth

Lineage-specific biology revealed by a finished genome assembly of the mouse

Church, Deanna M; Goodstadt, Leo; Hillier, Ladeana W; Zody, Michael C. et al.

Ingår i PLoS biology, 2009

• DOI för Lineage-specific biology revealed by a finished genome assembly of the mouse

Genome Sequence, Comparative Analysis, and Population Genetics of the Domestic Horse

Wade, C. M.; Giulotto, E.; Sigurdsson, Snaevar; Zoli, M. et al.

Ingår i Science, s. 865-867, 2009

• DOI för Genome Sequence, Comparative Analysis, and Population Genetics of the Domestic Horse

Mammary tumor development in dogs is associated with BRCA1 and BRCA2

Rivera, Patricio; Melin, Malin; Biagi, Tara; Fall, Tove et al.

Ingår i Cancer Research, s. 8770-8774, 2009

• DOI för Mammary tumor development in dogs is associated with BRCA1 and BRCA2

Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis

Awano, Tomoyuki; Johnson, Gary S.; Wade, Claire M.; Katz, Martin L. et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, s. 2794-2799, 2009

• DOI för Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis

Assisted assembly: how to improve a de novo genome assembly by using related species

Gnerre, Sante; Lander, Eric S; Lindblad-Toh, Kerstin; Jaffe, David B

Ingår i Genome Biology, 2009

• DOI för Assisted assembly: how to improve a de novo genome assembly by using related species

Identification of Repetitive Elements in the Genome of Oreochromis niloticus: Tilapia Repeat Masker

Shirak, Andrey; Grabherr, Manfred; Di Palma, Federica; Lindblad-Toh, Kerstin et al.

Ingår i Marine Biotechnology, s. 121-125, 2009

• DOI för Identification of Repetitive Elements in the Genome of Oreochromis niloticus: Tilapia Repeat Masker

Microarray-based cytogenetic profiling reveals recurrent and subtype-associated genomic copy number aberrations in feline sarcomas

Thomas, Rachael; Valli, Victor E; Ellis, Peter; Bell, Jerold et al.

Ingår i Chromosome Research, s. 987-1000, 2009

• DOI för Microarray-based cytogenetic profiling reveals recurrent and subtype-associated genomic copy number aberrations in feline sarcomas

A population study of a mutation allele associated with cone-rod dystrophy in the standard wire-haired dachshund

Wiik, A. C.; Thoresen, S. I.; Wade, C; Lindblad-Toh, Kerstin et al.

Ingår i Animal Genetics, s. 572-574, 2009

• DOI för A population study of a mutation allele associated with cone-rod dystrophy in the standard wire-haired dachshund

A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta

Drögemüller, Cord; Becker, Doreen; Brunner, Adrian; Haase, Bianca et al.

Ingår i PLoS genetics, 2009

• DOI för A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta

A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse

Pielberg, Gerli Rosengren; Golovko, Anna; Sundström, Elisabeth; Curik, Ino et al.

Ingår i Nature Genetics, s. 1004-1009, 2008

• DOI för A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse

A mutation in hairless dogs implicates FOXI3 in ectodermal development

Drögemüller, Cord; Karlsson, Elinor K; Hytönen, Marjo K; Perloski, Michele et al.

Ingår i Science, s. 1462, 2008

• DOI för A mutation in hairless dogs implicates FOXI3 in ectodermal development

A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund

Wiik, Anne Caroline; Wade, Claire; Biagi, Tara; Ropstad, Ernst-Otto et al.

Ingår i Genome Research, s. 1415-21, 2008

• DOI för A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund

Sequencing the nuclear genome of the extinct woolly mammoth.

Miller, Webb; Drautz, Daniela I; Ratan, Aakrosh; Pusey, Barbara et al.

Ingår i Nature, s. 387-390, 2008

• DOI för Sequencing the nuclear genome of the extinct woolly mammoth.

A genome assembly-integrated dog 1 Mb BAC microarray: a cytogenetic resource for canine cancer studies and comparative genomic analysis.

Thomas, R; Duke, S E; Karlsson, E K; Evans, A et al.

Ingår i Cytogenetic and Genome Research, s. 110-121, 2008

• DOI för A genome assembly-integrated dog 1 Mb BAC microarray: a cytogenetic resource for canine cancer studies and comparative genomic analysis.

Evaluation of the serotonergic genes htr1A, htr1B, htr2A, and slc6A4 in aggressive behavior of golden retriever dogs

van den Berg, L; Vos-Loohuis, M; Schilder, M B H; van Oost, B A et al.

Ingår i Behavior Genetics, s. 55-66, 2008

• DOI för Evaluation of the serotonergic genes htr1A, htr1B, htr2A, and slc6A4 in aggressive behavior of golden retriever dogs

Patterns of molecular genetic variation among cat breeds.

Menotti-Raymond, Marilyn; David, Victor A; Pflueger, Solveig M; Lindblad-Toh, Kerstin et al.

Ingår i Genomics, s. 1-11, 2008

Evolution of genes and genomes on the Drosophila phylogeny

Clark, Andrew G.; Eisen, Michael B.; Smith, Douglas R.; Bergman, Casey M. et al.

Ingår i Nature, s. 203-218, 2007

• DOI för Evolution of genes and genomes on the Drosophila phylogeny

Analysis of a set of Australian northern brown bandicoot expressed sequence tags with comparison to the genome sequence of the South American grey short tailed opossum

Baker, Michelle L; Indiviglio, Sandra; Nyberg, April M; Rosenberg, George H et al.

Ingår i BMC Genomics, s. 50, 2007

• DOI för Analysis of a set of Australian northern brown bandicoot expressed sequence tags with comparison to the genome sequence of the South American grey short tailed opossum

Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs

Salmon Hillbertz, Nicolette H. C.; Isaksson, Magnus; Karlsson, Elinor K.; Hellmén, Eva et al.

Ingår i Nature Genetics, s. 1318-1320, 2007

• DOI för Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs

Efficient mapping of mendelian traits in dogs through genome-wide association

Karlsson, Elinor K.; Baranowska, Izabella; Wade, Claire M.; Salmon Hillbertz, Nicolette H. C. et al.

Ingår i Nature Genetics, s. 1321-1328, 2007

• DOI för Efficient mapping of mendelian traits in dogs through genome-wide association

28-Way vertebrate alignment and conservation track in the UCSC Genome Browser

Miller, Webb; Rosenbloom, Kate; Hardison, Ross C; Hou, Minmei et al.

Ingår i Genome Research, s. 1797-1808, 2007

• DOI för 28-Way vertebrate alignment and conservation track in the UCSC Genome Browser

Integrated cytogenetic BAC map of the genome of the gray, short-tailed opossum, Monodelphis domestica

Duke, S E; Samollow, P B; Mauceli, E; Lindblad-Toh, Kerstin et al.

Ingår i Chromosome Research, s. 361-370, 2007

• DOI för Integrated cytogenetic BAC map of the genome of the gray, short-tailed opossum, Monodelphis domestica

Distinguishing protein-coding and noncoding genes in the human genome

Clamp, Michele; Fry, Ben; Kamal, Mike; Xie, Xiaohui et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, s. 19428-19433, 2007

• DOI för Distinguishing protein-coding and noncoding genes in the human genome

A unique T cell receptor discovered in marsupials

Parra, Zuly E; Baker, Michelle L; Schwarz, Ryan S; Deakin, Janine E et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, s. 9776-9781, 2007

• DOI för A unique T cell receptor discovered in marsupials

Initial sequence and comparative analysis of the cat genome

Pontius, Joan U; Mullikin, James C; Smith, Douglas R; Lindblad-Toh, Kerstin et al.

Ingår i Genome Research, s. 1675-1689, 2007

• DOI för Initial sequence and comparative analysis of the cat genome

Heart development in fibronectin-null mice is governed by a genetic modifier on chromosome four

Astrof, Sophie; Kirby, Andrew; Lindblad-Toh, Kerstin; Daly, Mark et al.

Ingår i Mechanisms of Development, s. 551-558, 2007

• DOI för Heart development in fibronectin-null mice is governed by a genetic modifier on chromosome four

Systematic discovery of regulatory motifs in conserved regions of the human genome, including thousands of CTCF insulator sites

Xie, Xiaohui; Mikkelsen, Tarjei S; Gnirke, Andreas; Lindblad-Toh, Kerstin et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, s. 7145-7150, 2007

• DOI för Systematic discovery of regulatory motifs in conserved regions of the human genome, including thousands of CTCF insulator sites

Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome

Margulies, Elliott H; Cooper, Gregory M; Asimenos, George; Thomas, Daryl J et al.

Ingår i Genome Research, s. 760-774, 2007

• DOI för Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome

Genome of the marsupial Monodelphis domestica reveals innovation in non-coding sequences

Mikkelsen, Tarjei S; Wakefield, Matthew J; Aken, Bronwen; Amemiya, Chris T et al.

Ingår i Nature, s. 167-177, 2007

• DOI för Genome of the marsupial Monodelphis domestica reveals innovation in non-coding sequences

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Birney, Ewan; Stamatoyannopoulos, John A.; Dutta, Anindya; Guigó, Roderic et al.

Ingår i Nature, s. 799-816, 2007

• DOI för Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Genome sequence, comparative analysis and haplotype structure of the domestic dog.

Lindblad-Toh, Kerstin; Wade, Claire M; Mikkelsen, Tarjei S; Karlsson, Elinor K et al.

Ingår i Nature, s. 803-19, 2005

• DOI för Genome sequence, comparative analysis and haplotype structure of the domestic dog.

Spastic paraplegia, ataxia, mental retardation (SPAR): A novel genetic disorder

Hedera, P.; Rainier, S.; Zhao, X. P.; Schalling, M. et al.

Ingår i Neurology, s. 411-416, 2002

• DOI för Spastic paraplegia, ataxia, mental retardation (SPAR): A novel genetic disorder

Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease

Rioux, John D.; Daly, Mark J.; Silverberg, Mark S.; Lindblad, Kerstin et al.

Ingår i Nature Genetics, s. 223-228, 2001

• DOI för Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease

Genetic survival analysis of age-at-onset of bipolar disorder: evidence for anticipation or cohort effect in families

Visscher, Peter M.; Yazdi, M. Hossein; Jackson, Alan D.; Schalling, Martin et al.

Ingår i Psychiatric Genetics, s. 129-137, 2001

• DOI för Genetic survival analysis of age-at-onset of bipolar disorder: evidence for anticipation or cohort effect in families

A cloning strategy for identification of genes containing trinucleotide repeat expansions

Yuan, Q.-P.; Lindblad-Toh, Kerstin; Zander, Cecilia; Burgess, C. et al.

Ingår i International Journal of Molecular Medicine, s. 427-431, 2001

• DOI för A cloning strategy for identification of genes containing trinucleotide repeat expansions

Dominantly inherited familial myasthenia gravis as a separate genetic entity without involvement of defined candidate gene loci

Li, Fang-Yuan; Szobor, Albert; Croxen, Rebecca; Anselmo, Victoria et al.

Ingår i International Journal of Molecular Medicine, s. 289-294, 2001

• DOI för Dominantly inherited familial myasthenia gravis as a separate genetic entity without involvement of defined candidate gene loci

What animals can teach us about evolution, the human genome, and human disease

Lindblad-Toh, Kerstin

Ingår i Upsala Journal of Medical Sciences, s. 1-9, 2020

• DOI för 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

Meadows, Jennifer; Lindblad-Toh, Kerstin

Ingår i Nature reviews genetics, s. 624-636, 2017

• DOI för Dissecting evolution and disease using comparative vertebrate genomics

LUPA: A European initiative taking advantage of the canine genome architecture for unravelling complex disorders in both human and dogs

Lequarre, Anne-Sophie; Andersson, Leif; Andre, Catherine; Fredholm, Merete et al.

Ingår i The Veterinary Journal, s. 155-159, 2011

• DOI för LUPA: A European initiative taking advantage of the canine genome architecture for unravelling complex disorders in both human and dogs

Leader of the pack: gene mapping in dogs and other model organisms

Karlsson, Elinor K.; Lindblad-Toh, Kerstin

Ingår i Nature reviews genetics, s. 713-725, 2008

• DOI för Leader of the pack: gene mapping in dogs and other model organisms

Repeat Expansion Detection (RED) and the RED Cloning Strategy

Yuan, Qiu-Ping; Lindblad-Toh, Kerstin; Schalling, Martin

Ingår i Neurogenetics, s. 51-60, Humana Press, 2003

• DOI för Repeat Expansion Detection (RED) and the RED Cloning Strategy

The sex-stratified genetic architecture of ankylosing spondylitis

Mathioudaki, Argyri; Nordin, Jessika; Karlsson, Åsa; Murén, Eva et al.

Replication and fine mapping of ankylosing spondylitis replicated loci in the Swedish population reveal different CCHCR1 protective haplotypes

Mathioudaki, Argyri; Nordin, Jessika; Murén, Eva; Karlsson, Åsa et al.

Genome-wide meta-analysis identifies inherited variation contributing to overall risk and age of onset in canine angiosarcoma

Megquier, Katherine; Tonomura, Noriko; Fall, Tove; Noh, Hyun Ji et al.

Exome sequencing of hemangiosarcomas in the golden retriever reveals frequent mutation of TP53 tumor suppressor and PIK3CA oncogene

Megquier, Katherine; Turner-Maier, Jason; Swofford, Ross; Kim, Jong Hyuk et al.