Kerstin Lindblad-Toh

Keywords

• cancer
• hundars sjukdomar
• komparativ genomik
• medicinsk genetik

Publications

Recent publications

• Genome wide association study in Swedish Labrador retrievers identifies genetic loci associated with hip dysplasia and body weight (2024)
• Identification of constrained sequence elements across 239 primate genomes (2024)
• A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile (2024)
• Mammalian evolution of human cis-regulatory elements and transcription factor binding sites (2023)
• PIK3CA is recurrently mutated in canine mammary tumors, similarly to in human mammary neoplasia (2023)

All publications

Articles

• Genome wide association study in Swedish Labrador retrievers identifies genetic loci associated with hip dysplasia and body weight (2024)
• Identification of constrained sequence elements across 239 primate genomes (2024)
• A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile (2024)
• Mammalian evolution of human cis-regulatory elements and transcription factor binding sites (2023)
• PIK3CA is recurrently mutated in canine mammary tumors, similarly to in human mammary neoplasia (2023)
• Multiple Genetic Loci Associated with Pug Dog Thoracolumbar Myelopathy (2023)
• Evolutionary constraint and innovation across hundreds of placental mammals (2023)
• Stratified genetic analysis reveals sex differences in MPO-ANCA-associated vasculitis (2023)
• A genomic timescale for placental mammal evolution (2023)
• Relating enhancer genetic variation across mammals to complex phenotypes using machine learning (2023)
• Three-dimensional genome rewiring in loci with human accelerated regions (2023)
• Integrating gene annotation with orthology inference at scale (2023)
• Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies (2023)
• Bayesian mixed model analysis uncovered 21 risk loci for chronic kidney disease in boxer dogs (2023)
• Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease (2023)
• Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture (2023)
• ​Comparative genomics of Balto, a famous historic dog, captures lost diversity of 1920s sled dogs (2023)
• Chiropterans Are a Hotspot for Horizontal Transfer of DNA Transposons in Mammalia (2023)
• Using evolutionary constraint to define novel candidate driver genes in medulloblastoma (2023)
• Leveraging base-pair mammalian constraint to understand genetic variation and human disease (2023)
• The contribution of historical processes to contemporary extinction risk in placental mammals (2023)
• The functional and evolutionary impacts of human-specific deletions in conserved elements (2023)
• Contribution of rare genetic variation to disease susceptibility in a large Scandinavian myositis cohort (2022)
• Why sequence all eukaryotes? (2022)
• TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A (2022)
• Evolution of the ancestral mammalian karyotype and syntenic regions (2022)
• Standards recommendations for the Earth BioGenome Project (2022)
• The Earth BioGenome Project 2020 (2022)
• Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases (2022)
• Allele frequency spectrum of known ankylosing spondylitis associated variants in a Swedish population (2022)
• The Antarctic Weddell seal genome reveals evidence of selection on cardiovascular phenotype and lipid handling (2022)
• Canine Oral Melanoma Genomic and Transcriptomic Study Defines Two Molecular Subgroups with Different Therapeutical Targets (2022)
• Bayesian model and selection signature analyses reveal risk factors for canine atopic dermatitis (2022)
• Mer-tyrosine kinase (2022)
• The ABCC4 gene is associated with pyometra in golden retriever dogs (2021)
• 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 (2021)
• Roan, ticked and clear coat patterns in the canine are associated with three haplotypes near usherin on CFA38 (2021)
• Identification and Functional Characterization of a Novel Susceptibility Locus for Small Vessel Vasculitis with MPO-ANCA (2021)
• How to make a rodent giant (2021)
• 3D genomics across the tree of life reveals condensin II as a determinant of architecture type (2021)
• Genomically Complex Human Angiosarcoma and Canine Hemangiosarcoma Establish Convergent Angiogenic Transcriptional Programs Driven by Novel Gene Fusions (2021)
• Genome-Wide Analyses for Osteosarcoma in Leonberger Dogs Reveal the CDKN2A/B Gene Locus as a Major Risk Locus (2021)
• Association of Protective HLA-A With HLA-B∗27 Positive Ankylosing Spondylitis (2021)
• Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing (2021)
• Genetic and clinical basis for two distinct subtypes of primary Sjögren's syndrome (2021)
• A novel canine reference genome resolves genomic architecture and uncovers transcript complexity (2021)
• Toll-like receptors revisited (2021)
• Progressive Cactus is a multiple-genome aligner for the thousand-genome era (2020)
• Whole-genome genotyping and resequencing reveal the association of a deletion in the complex interferon alpha gene cluster with hypothyroidism in dogs (2020)
• Broad host range of SARS-CoV-2 predicted by comparative and structural analysis of ACE2 in vertebrates (2020)
• A comparative genomics multitool for scientific discovery and conservation (2020)
• Comparative host-coronavirus protein interaction networks reveal pan-viral disease mechanisms (2020)
• What animals can teach us about evolution, the human genome, and human disease (2020)
• Nordic OCD & Related Disorders Consortium (2020)
• Targeted sequencing reveals the somatic mutation landscape in a Swedish breast cancer cohort (2020)
• SweHLA (2020)
• Thoracolumbar meningeal fibrosis in pugs (2020)
• Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes (2020)
• Transcriptomes from German shepherd dogs reveal differences in immune activity between atopic dermatitis affected and control skin (2020)
• Aquatic Adaptation and Depleted Diversity (2019)
• 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 (2019)
• Solenodon genome reveals convergent evolution of venom in eulipotyphlan mammals. (2019)
• A quantitative framework for characterizing the evolutionary history of mammalian gene expression (2019)
• A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts (2019)
• Low guanylyl cyclase activity in Weddell seals (2019)
• Genome-Wide Analysis of Long Non-Coding RNA Profiles in Canine Oral Melanomas (2019)
• BarkBase (2019)
• Comparative Genomics Reveals Shared Mutational Landscape in Canine Hemangiosarcoma and Human Angiosarcoma (2019)
• The risk allele A of rs200395694 associated with SLE in Swedish patients affects on MEF2D gene regulation and alternative splicing (2018)
• ILF2 and ILF3 are autoantigens in canine systemic autoimmune disease (2018)
• Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden (2018)
• Cytokine Autoantibody Screening in the Swedish Addison Registry Identifies Patients With Undiagnosed APS1 (2018)
• A comprehensive genomic history of extinct and living elephants (2018)
• Presence of thoracic and lumbar vertebral malformations in pugs with and without chronic neurological deficits (2018)
• High prevalence of gait abnormalities in pugs (2018)
• SETD2 Is Recurrently Mutated in Whole-Exome Sequenced Canine Osteosarcoma (2018)
• Genetic basis and clinical evidence for two variants of primary Sjögren's syndrome with distinct outcomes (2018)
• Comparison of cellular location and expression of Plakophilin-2 in epidermal cells from nonlesional atopic skin and healthy skin in German shepherd dogs (2017)
• Safe and Effective Sarcoma Therapy through Bispecific Targeting of EGFR and uPAR. (2017)
• An exome sequencing based approach for genome-wide association studies in the dog (2017)
• Interactions between CXCR4 and CXCL12 promote cell migration and invasion of canine hemangiosarcoma (2017)
• Dissecting evolution and disease using comparative vertebrate genomics (2017)
• Integrating evolutionary and regulatory information with multispecies approach implicates genes and pathways in obsessive-compulsive disorder (2017)
• 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 (2017)
• Biovupsych (2017)
• FEELnc (2017)
• The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons (2016)
• Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression (2016)
• Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease (2016)
• Effect of Breed on Plasma Endothelin-1 Concentration, Plasma Renin Activity, and Serum Cortisol Concentration in Healthy Dogs (2016)
• Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation underlying Dun camouflage colour in horses (2016)
• Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy (2016)
• Genome-Wide Analysis Identifies Germ-Line Risk Factors Associated with Canine Mammary Tumours (2016)
• Absolute quantification reveals the stable transmission of a high copy number variant linked to autoinflammatory disease (2016)
• An Improved microRNA Annotation of the Canine Genome (2016)
• A Deletion in the Canine POMC Gene Is Associated with Weight and Appetite in Obesity-Prone Labrador Retriever Dogs (2016)
• 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 (2016)
• 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 (2016)
• Genome-Wide Association Study of Golden Retrievers Identifies Germ-Line Risk Factors Predisposing to Mast Cell Tumours (2015)
• Improved canine exome designs, featuring ncRNAs and increased coverage of protein coding genes (2015)
• Exome sequencing of lymphomas from three dog breeds reveals somatic mutation patterns reflecting genetic background (2015)
• Convergent evolution of the genomes of marine mammals (2015)
• The Shepherds' Tale (2015)
• cgmisc (2015)
• Genome-Wide Analyses Suggest Mechanisms Involving Early B-cell Development in Canine IgA Deficiency (2015)
• Genome-wide Association Study Identifies Shared Risk Loci Common to Two Malignancies in Golden Retrievers (2015)
• Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype (2015)
• Linked genetic variants on chromosome 10 control ear morphology and body mass among dog breeds (2015)
• Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease (2015)
• Canine Hereditary Ataxia in Old English Sheepdogs and Gordon Setters Is Associated with a Defect in the Autophagy Gene Encoding RAB24 (2014)
• Lack of evidence for a role of islet autoimmunity in the aetiology of canine diabetes mellitus (2014)
• Amylase activity is associated with AMY2B copy numbers in dog (2014)
• A Simple Repeat Polymorphism in the MITF-M Promoter Is a Key Regulator of White Spotting in Dogs (2014)
• The genomic substrate for adaptive radiation in African cichlid fish (2014)
• Rabbit genome analysis reveals a polygenic basis for phenotypic change during domestication (2014)
• High-Throughput Sequencing of 219 Candidate Genes for Identification of SLE-Associated Risk Variants (2014)
• Identification of Three Molecular and Functional Subtypes in Canine Hemangiosarcoma through Gene Expression Profiling and Progenitor Cell Characterization (2014)
• An Improved Canine Genome and a Comprehensive Catalogue of Coding Genes and Non-Coding Transcripts (2014)
• The Naked Mole Rat Genome Resource (2014)
• Genome-wide copy number variant discovery in dogs using the CanineHD genotyping array (2014)
• The dog as a genetic model for immunoglobulin A (IgA) deficiency (2014)
• The draft genome sequence of the ferret (Mustela putorius furo) facilitates study of human respiratory disease (2014)
• Breed Differences in Natriuretic Peptides in Healthy Dogs (2014)
• Candidate genes and functional noncoding variants identified in a canine model of obsessive-compulsive disorder (2014)
• Genomic profiling reveals extensive heterogeneity in somatic DNA copy number aberrations of canine hemangiosarcoma (2014)
• Breed Distribution of SOD1 Alleles Previously Associated with Canine Degenerative Myelopathy (2014)
• Comparative genomics as a tool to understand evolution and disease (2013)
• The African coelacanth genome provides insights into tetrapod evolution (2013)
• The genomic signature of dog domestication reveals adaptation to a starch-rich diet (2013)
• The ESR1 gene is associated with risk for canine mammary tumours (2013)
• Genome reannotation of the lizard Anolis carolinensis based on 14 adult and embryonic deep transcriptomes (2013)
• IgA deficiency in wolves (2013)
• Molecular Profiling Reveals Prognostically Significant Subtypes of Canine Lymphoma (2013)
• Hyaluronic Acid is a Marker of Active Arthritis, but not Systemic Inflammation in Systemic Juvenile Idiopathic Arthritis (2013)
• Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B (2013)
• Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing (2013)
• Thorough investigation of a canine autoinflammatory disease (AID) syndrome confirms one main risk factor and suggests a modifier locus for amyloidosis (2013)
• Genome-Wide Analysis in German Shepherd Dogs Reveals Association of a Locus on CFA 27 with Atopic Dermatitis (2013)
• Unsupervised genome-wide recognition of local relationship patterns (2013)
• Novel origins of copy number variation in the dog genome (2012)
• Convergent and divergent evolution of genomic imprinting in the marsupial Monodelphis domestica (2012)
• The genomic basis of adaptive evolution in threespine sticklebacks (2012)
• Rethinking dog domestication by integrating genetics, archeology, and biogeography (2012)
• A High Density SNP Array for the Domestic Horse and Extant Perissodactyla (2012)
• 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 (2012)
• Two Loci on Chromosome 5 Are Associated with Serum IgE Levels in Labrador Retrievers (2012)
• Copy number expansion of the STX17 duplication in melanoma tissue from Grey horses (2012)
• Copy number expansion of the STX17 duplication in melanoma tissue from Grey horses (2012)
• The genome of the green anole lizard and a comparative analysis with birds and mammals (2011)
• Death of PRDM9 coincides with stabilization of the recombination landscape in the dog genome (2011)
• A Frameshift Mutation in Golden Retriever Dogs with Progressive Retinal Atrophy Endorses SLC4A3 as a Candidate Gene for Human Retinal Degenerations (2011)
• Mutation discovery in mice by whole exome sequencing (2011)
• A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers (2011)
• Exploiting Nucleotide Composition to Engineer Promoters (2011)
• Full-length transcriptome assembly from RNA-Seq data without a reference genome (2011)
• Performance of Microarray and Liquid Based Capture Methods for Target Enrichment for Massively Parallel Sequencing and SNP Discovery (2011)
• LUPA (2011)
• A high-resolution map of human evolutionary constraint using 29 mammals (2011)
• Three periods of regulatory innovation during vertebrate evolution (2011)
• A Novel Unstable Duplication Upstream of HAS2 Predisposes to a Breed-Defining Skin Phenotype and a Periodic Fever Syndrome in Chinese Shar-Pei Dogs (2011)
• Comparison of buccal and blood-derived canine DNA, either native or whole genome amplified, for array-based genome-wide association studies (2011)
• Molecular subtypes of osteosarcoma identified by reducing tumor heterogeneity through an interspecies comparative approach (2011)
• LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs (2011)
• Refining tumor-associated aneuploidy through 'genomic recoding' of recurrent DNA copy number aberrations in 150 canine non-Hodgkin lymphomas (2011)
• Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping (2011)
• ZBED6 (2010)
• Localization of canine brachycephaly using an across breed mapping approach (2010)
• Fine-mapping and mutation analysis of TRPM1 (2010)
• High resolution mapping and positional cloning of ENU-induced mutations in the Rw region of mouse chromosome 5 (2010)
• A canine chromosome 7 locus confers compulsive disorder susceptibility (2010)
• Identification of the Bovine Arachnomelia Mutation by Massively Parallel Sequencing Implicates Sulfite Oxidase (SUOX) in Bone Development (2010)
• A deletion in the N-myc downstream regulated gene 1 (NDRG1) gene in Greyhounds with polyneuropathy (2010)
• Diabetes Mellitus in Elkhounds Is Associated with Diestrus and Pregnancy (2010)
• Genome-wide synteny through highly sensitive sequence alignment (2010)
• Genome-wide association identifies a deletion in the 3' untranslated region of Striatin in a canine model of arrhythmogenic right ventricular cardiomyopathy (2010)
• Whole genome resequencing reveals loci under selection during chicken domestication (2010)
• Comparative physical maps derived from BAC end sequences of tilapia (Oreochromis niloticus). (2010)
• Association of dopamine- and serotonin-related genes with canine aggression (2010)
• Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex. (2010)
• DLA Class II Alleles Are Associated with Risk for Canine Symmetrical Lupoid Onychodystropy (SLO) (2010)
• Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis (2009)
• Lineage-specific biology revealed by a finished genome assembly of the mouse (2009)
• A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta (2009)
• Assisted assembly (2009)
• ZBED6, a novel transcription factor derived from a domesticated DNA transposon regulates IGF2 expression and muscle growth (2009)
• Mammary tumor development in dogs is associated with BRCA1 and BRCA2 (2009)
• Identification of Repetitive Elements in the Genome of Oreochromis niloticus (2009)
• Microarray-based cytogenetic profiling reveals recurrent and subtype-associated genomic copy number aberrations in feline sarcomas (2009)
• Genome Sequence, Comparative Analysis, and Population Genetics of the Domestic Horse (2009)
• A population study of a mutation allele associated with cone-rod dystrophy in the standard wire-haired dachshund (2009)
• A mutation in hairless dogs implicates FOXI3 in ectodermal development (2008)
• Leader of the pack (2008)
• Patterns of molecular genetic variation among cat breeds. (2008)
• Sequencing the nuclear genome of the extinct woolly mammoth. (2008)
• A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse (2008)
• A genome assembly-integrated dog 1 Mb BAC microarray (2008)
• Evaluation of the serotonergic genes htr1A, htr1B, htr2A, and slc6A4 in aggressive behavior of golden retriever dogs (2008)
• A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund (2008)
• Heart development in fibronectin-null mice is governed by a genetic modifier on chromosome four (2007)
• 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 (2007)
• Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project (2007)
• Distinguishing protein-coding and noncoding genes in the human genome (2007)
• Evolution of genes and genomes on the Drosophila phylogeny (2007)
• Integrated cytogenetic BAC map of the genome of the gray, short-tailed opossum, Monodelphis domestica (2007)
• Efficient mapping of mendelian traits in dogs through genome-wide association (2007)
• Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome (2007)
• Genome of the marsupial Monodelphis domestica reveals innovation in non-coding sequences (2007)
• 28-Way vertebrate alignment and conservation track in the UCSC Genome Browser (2007)
• A unique T cell receptor discovered in marsupials (2007)
• Initial sequence and comparative analysis of the cat genome (2007)
• Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs (2007)
• Systematic discovery of regulatory motifs in conserved regions of the human genome, including thousands of CTCF insulator sites (2007)
• Genome sequence, comparative analysis and haplotype structure of the domestic dog. (2005)
• Spastic paraplegia, ataxia, mental retardation (SPAR) (2002)
• Dominantly inherited familial myasthenia gravis as a separate genetic entity without involvement of defined candidate gene loci (2001)
• Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease (2001)
• Genetic survival analysis of age-at-onset of bipolar disorder (2001)
• A cloning strategy for identification of genes containing trinucleotide repeat expansions (2001)
• The sex-stratified genetic architecture of ankylosing spondylitis
• Replication and fine mapping of ankylosing spondylitis replicated loci in the Swedish population reveal different CCHCR1 protective haplotypes
• Genome-wide meta-analysis identifies inherited variation contributing to overall risk and age of onset in canine angiosarcoma
• Exome sequencing of hemangiosarcomas in the golden retriever reveals frequent mutation of TP53 tumor suppressor and PIK3CA oncogene

Chapters

• Repeat Expansion Detection (RED) and the RED Cloning Strategy (2003)