Publikationer

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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Autosomal dominant primary hyperparathyroidism in the Keeshond dog breed is strongly associated with a missense variant in sirtuin-6

Wade, Claire M.; Burmeister, Louise M.; Skelly, Barbara J.; McLaughlin, Bryan et al.

Ingår i Animal Genetics, 2025

• DOI för Autosomal dominant primary hyperparathyroidism in the Keeshond dog breed is strongly associated with a missense variant in sirtuin-6

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
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Genetic Adaptation to Brackish Water and Spawning Season in European Cisco

Deng, Qiaoling; Goodall, Jake; Bergenius Nord, Mikaela; Bunikis, Ignas et al.

Ingår i Molecular Ecology, 2025

• DOI för Genetic Adaptation to Brackish Water and Spawning Season in European Cisco
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Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder

Strom, Nora I.; Gerring, Zachary F.; Galimberti, Marco; Yu, Dongmei et al.

Ingår i Nature Genetics, 2025

• DOI för Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder
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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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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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Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare

Kampe, Anders; Gudmundsson, Sanna; Walsh, Colum P.; Lindblad-Toh, Kerstin et al.

Ingår i Nature Medicine, s. 1730-1732, 2025

• DOI för Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare

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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A framework for sharing of clinical and genetic data for precision medicine applications

Elhussein, Ahmed; Baymuradov, Ulugbek; Elhadad, Noémie; Natarajan, Karthik et al.

Ingår i Nature Medicine, s. 3578-3589, 2024

• DOI för A framework for sharing of clinical and genetic data for precision medicine applications
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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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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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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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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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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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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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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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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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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

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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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
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​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

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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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

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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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

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

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

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
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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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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

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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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
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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

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

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

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

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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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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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
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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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TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

Brown, Anna-Leigh; Fratta, Pietro

Ingår i Nature, s. 131-137, 2022

• DOI för TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
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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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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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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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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