Publications

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.

Part of Scientific Reports, 2026

• DOI for A variant in RESF1 is associated with Addison's disease and multiple autoimmune syndrome in young Nova Scotia Duck Tolling Retrievers
• Download full text (pdf) of A variant in RESF1 is associated with Addison's disease and multiple autoimmune syndrome in young Nova Scotia Duck Tolling Retrievers

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.

Part of Neuro-Oncology Advances, 2026

• DOI for Rare germline variants contribute to glioma predisposition: Whole-genome analysis of a regional cohort of glioma patients
• Download full text (pdf) of Rare germline variants contribute to glioma predisposition: Whole-genome analysis of a regional cohort of glioma patients

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

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

Part of Molecular Psychiatry, p. 1510-1517, 2025

• DOI for A burden of rare copy number variants in obsessive-compulsive disorder
• Download full text (pdf) of A burden of rare copy number variants in obsessive-compulsive disorder

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.

Part of American Journal of Medical Genetics Part B, 2025

• DOI for 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.

Part of Animal Genetics, 2025

• DOI for 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.

Part of Scientific Reports, 2025

• DOI for Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival
• Download full text (pdf) of Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival

Genetic Adaptation to Brackish Water and Spawning Season in European Cisco

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

Part of Molecular Ecology, 2025

• DOI for Genetic Adaptation to Brackish Water and Spawning Season in European Cisco
• Download full text (pdf) of Genetic Adaptation to Brackish Water and Spawning Season in European Cisco

Genome Variation in Three Anthophora Bee Species Reflects Divergent Demographic Histories

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

Part of Molecular Ecology, 2025

• DOI for Genome Variation in Three Anthophora Bee Species Reflects Divergent Demographic Histories
• Download full text (pdf) of Genome Variation in Three Anthophora Bee Species Reflects Divergent Demographic Histories

Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder

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

Part of Nature Genetics, 2025

• DOI for Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder
• Download full text (pdf) of Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder

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

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

Part of Proceedings of the National Academy of Sciences of the United States of America, 2025

• DOI for Integrating extensive functional annotations and multiomics of cattle enhances climate resilience prediction and mapping
• Download full text (pdf) of Integrating extensive functional annotations and multiomics of cattle enhances climate resilience prediction and mapping

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.

Part of Nature Communications, 2025

• DOI for Interpreting mammalian synonymous site conservation in light of the unwanted transcript hypothesis
• Download full text (pdf) of Interpreting mammalian synonymous site conservation in light of the unwanted transcript hypothesis

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.

Part of Genes, 2025

• DOI for Measures of Homozygosity and Relationship to Genetic Diversity in the Bearded Collie Breed
• Download full text (pdf) of Measures of Homozygosity and Relationship to Genetic Diversity in the Bearded Collie Breed

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

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

Part of Nature Medicine, p. 1730-1732, 2025

• DOI for 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.

Part of Lupus Science and Medicine, 2025

• DOI for Rare and common single nucleotide variants in childhood-onset systemic lupus erythematosus
• Download full text (pdf) of Rare and common single nucleotide variants in childhood-onset systemic lupus erythematosus

TDP-43 loss induces cryptic polyadenylation in ALS/FTD

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

Part of Nature Neuroscience, p. 2190-2200, 2025

• DOI for 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.

Part of Frontiers in Science, 2025

• DOI for 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.

Part of Arthritis & Rheumatology, p. 212-225, 2025

• DOI for Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases
• Download full text (pdf) of Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases

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

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

Part of Nature Medicine, p. 3578-3589, 2024

• DOI for A framework for sharing of clinical and genetic data for precision medicine applications
• Download full text (pdf) of A framework for sharing of clinical and genetic data for precision medicine applications

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.

Part of Journal of Autoimmunity, 2024

• DOI for A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile
• Download full text (pdf) of A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile

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.

Part of The Veterinary Record, 2024

• DOI for Assessment of glial fibrillary acidic protein and anti‐glial fibrillary acidic protein autoantibody concentrations and necrotising meningoencephalitis risk genotype in dogs with pug dog myelopathy
• Download full text (pdf) of Assessment of glial fibrillary acidic protein and anti‐glial fibrillary acidic protein autoantibody concentrations and necrotising meningoencephalitis risk genotype in dogs with pug dog myelopathy

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.

Part of Scientific Reports, 2024

• DOI for Elevated levels of IL-12/IL-23p40 in Nova Scotia Duck Tolling Retrievers with autoimmune disease and lymphoma
• Download full text (pdf) of Elevated levels of IL-12/IL-23p40 in Nova Scotia Duck Tolling Retrievers with autoimmune disease and lymphoma

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.

Part of Scientific Reports, 2024

• DOI for Genome wide association study in Swedish Labrador retrievers identifies genetic loci associated with hip dysplasia and body weight
• Download full text (pdf) of Genome wide association study in Swedish Labrador retrievers identifies genetic loci associated with hip dysplasia and body weight

Hemangiosarcoma Cells Promote Conserved Host-derived Hematopoietic Expansion

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

Part of Cancer Research Communications, p. 1467-1480, 2024

• DOI for Hemangiosarcoma Cells Promote Conserved Host-derived Hematopoietic Expansion
• Download full text (pdf) of Hemangiosarcoma Cells Promote Conserved Host-derived Hematopoietic Expansion

Identification of constrained sequence elements across 239 primate genomes

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

Part of Nature, p. 735-742, 2024

• DOI for Identification of constrained sequence elements across 239 primate genomes
• Download full text (pdf) of Identification of constrained sequence elements across 239 primate genomes

Identification of gene fusions associated with amyotrophic lateral sclerosis

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

Part of Muscle and Nerve, p. 477-489, 2024

• DOI for 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.

Part of Acta Veterinaria Scandinavica, 2024

• DOI for In sickness and health - a questionnaire based study regarding immune mediated diseases and neoplasia in Swedish Nova Scotia Duck Tolling Retrievers
• Download full text (pdf) of In sickness and health - a questionnaire based study regarding immune mediated diseases and neoplasia in Swedish Nova Scotia Duck Tolling Retrievers

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

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

Part of Acta neuropathologica communications, 2024

• DOI for 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.

Part of RMD Open, 2024

• DOI for The HLA region in ANCA-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population
• Download full text (pdf) of The HLA region in ANCA-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population

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

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

Part of Science, 2024

• DOI for 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.

Part of Science, p. 365-+, 2023

• DOI for 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.

Part of PLOS Genetics, 2023

• DOI for Bayesian mixed model analysis uncovered 21 risk loci for chronic kidney disease in boxer dogs
• Download full text (pdf) of Bayesian mixed model analysis uncovered 21 risk loci for chronic kidney disease in boxer dogs

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.

Part of Molecular biology and evolution, 2023

• DOI for Chiropterans Are a Hotspot for Horizontal Transfer of DNA Transposons in Mammalia
• Download full text (pdf) of Chiropterans Are a Hotspot for Horizontal Transfer of DNA Transposons in Mammalia

​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.

Part of Science, 2023

• DOI for ​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.

Part of EBioMedicine, 2023

• DOI for Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies
• Download full text (pdf) of Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies

Evolutionary constraint and innovation across hundreds of placental mammals

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

Part of Science, 2023

• DOI for 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.

Part of Genome Biology, 2023

• DOI for Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture
• Download full text (pdf) of Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture

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.

Part of Science, p. 371-+, 2023

• DOI for 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.

Part of Science, p. 368-+, 2023

• DOI for 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.

Part of Science, p. 367-+, 2023

• DOI for 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.

Part of Science, 2023

• DOI for 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.

Part of Genes, 2023

• DOI for Multiple Genetic Loci Associated with Pug Dog Thoracolumbar Myelopathy
• Download full text (pdf) of Multiple Genetic Loci Associated with Pug Dog Thoracolumbar Myelopathy

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

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

Part of Journal of Veterinary Internal Medicine, p. 1507-1513, 2023

• DOI for Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs
• Download full text (pdf) of Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs

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.

Part of Scientific Reports, 2023

• DOI for PIK3CA is recurrently mutated in canine mammary tumors, similarly to in human mammary neoplasia
• Download full text (pdf) of PIK3CA is recurrently mutated in canine mammary tumors, similarly to in human mammary neoplasia

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.

Part of Science, 2023

• DOI for 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.

Part of European Journal of Endocrinology, p. 235-241, 2023

• DOI for Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease
• Download full text (pdf) of Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease

Stratified genetic analysis reveals sex differences in MPO-ANCA-associated vasculitis

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

Part of Rheumatology, p. 3213-3218, 2023

• DOI for Stratified genetic analysis reveals sex differences in MPO-ANCA-associated vasculitis
• Download full text (pdf) of Stratified genetic analysis reveals sex differences in MPO-ANCA-associated vasculitis

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

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

Part of Science, 2023

• DOI for 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.

Part of Science, 2023

• DOI for 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.

Part of Science, 2023

• DOI for 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.

Part of Proceedings of the National Academy of Sciences of the United States of America, 2023

• DOI for Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
• Download full text (pdf) of Using evolutionary constraint to define novel candidate driver genes in medulloblastoma