Publikationer

A variant in RESF1 is associated with Addison's disease and multiple autoimmune syndrome in young Nova Scotia Duck Tolling Retrievers

Brown, Emily; Varney, Scarlett; Young, Amy; Wolf, Zena et al.

Ingår i Scientific Reports, 2026

• DOI för A variant in RESF1 is associated with Addison's disease and multiple autoimmune syndrome in young Nova Scotia Duck Tolling Retrievers
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Rare germline variants contribute to glioma predisposition: Whole-genome analysis of a regional cohort of glioma patients

Rosenbaum, Adam; Wibom, Carl; Hammermeister Suger, Austin; Pensch, Raphaela et al.

Ingår i Neuro-Oncology Advances, 2026

• DOI för Rare germline variants contribute to glioma predisposition: Whole-genome analysis of a regional cohort of glioma patients
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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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Association Between Polygenic Risk and Symptom Severity Change After Cognitive Behavioral Therapy for Obsessive‐Compulsive Disorder

Bäckman, Julia; Wallert, John; Halvorsen, Matthew; Roelstraete, Bjorn et al.

Ingår i American Journal of Medical Genetics Part B, 2025

• DOI för Association Between Polygenic Risk and Symptom Severity Change After Cognitive Behavioral Therapy for Obsessive‐Compulsive Disorder

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 Variation in Three Anthophora Bee Species Reflects Divergent Demographic Histories

Taliadoros, Demetris; Soares, André; Dias, Guilherme; Bunikis, Ignas et al.

Ingår i Molecular Ecology, 2025

• DOI för Genome Variation in Three Anthophora Bee Species Reflects Divergent Demographic Histories
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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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Integrating extensive functional annotations and multiomics of cattle enhances climate resilience prediction and mapping

Xiang, Ruidong; Breen, Edmond; Bolormaa, Sunduimijid; Liu, Zhiqian et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, 2025

• DOI för Integrating extensive functional annotations and multiomics of cattle enhances climate resilience prediction and mapping
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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

Rare and common single nucleotide variants in childhood-onset systemic lupus erythematosus

Sayadi, Ahmed; Sandling, Johanna K.; Eloranta, Maija-Leena; Jönsen, Andreas et al.

Ingår i Lupus Science and Medicine, 2025

• DOI för Rare and common single nucleotide variants in childhood-onset systemic lupus erythematosus
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TDP-43 loss induces cryptic polyadenylation in ALS/FTD

Bryce-Smith, Sam; Brown, Anna-Leigh; Chien, Max Z. Y. J.; Dattilo, Dario et al.

Ingår i Nature Neuroscience, s. 2190-2200, 2025

• DOI för TDP-43 loss induces cryptic polyadenylation in ALS/FTD

The Earth BioGenome Project Phase II: illuminating the eukaryotic tree of life

Blaxter, Mark; Lewin, Harris A.; DiPalma, Federica; Challis, Richard et al.

Ingår i Frontiers in Science, 2025

• DOI för The Earth BioGenome Project Phase II: illuminating the eukaryotic tree of life

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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Identification of gene fusions associated with amyotrophic lateral sclerosis

Raghav, Yogindra; Dilliott, Allison A.; Petrozziello, Tiziana; Kim, Spencer E. et al.

Ingår i Muscle and Nerve, s. 477-489, 2024

• DOI för Identification of gene fusions associated with amyotrophic lateral sclerosis

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 cycad genotoxin methylazoxymethanol, linked to Guam ALS/PDC, induces transcriptional mutagenesis

Verheijen, Bert M.; Chung, Claire; Thompson, Ben; Kim, Hyunjin et al.

Ingår i Acta neuropathologica communications, 2024

• DOI för The cycad genotoxin methylazoxymethanol, linked to Guam ALS/PDC, induces transcriptional mutagenesis

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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Vocal learning–associated convergent evolution in mammalian proteins and regulatory elements

Wirthlin, Morgan E.; Schmid, Tobias A.; Elie, Julie E.; Zhang, Xiaomeng et al.

Ingår i Science, 2024

• DOI för Vocal learning–associated convergent evolution in mammalian proteins and regulatory elements

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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Insights into mammalian TE diversity through the curation of 248 genome assemblies

Osmanski, Austin B.; Paulat, Nicole S.; Korstian, Jenny; Grimshaw, Jenna R. et al.

Ingår i Science, s. 371-+, 2023

• DOI för Insights into mammalian TE diversity through the curation of 248 genome assemblies

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

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

Ingår i Journal of Veterinary Internal Medicine, s. 1507-1513, 2023

• DOI för Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs
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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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