Matteo Bianchi
Researcher at Institutionen för medicinsk biokemi och mikrobiologi; Genetik och genomik; Kerstin Lindblad-Toh
- E-mail:
- matteo.bianchi@imbim.uu.se
- Visiting address:
- BMC
Husargatan 3
752 37 UPPSALA - Postal address:
- Box 582
751 23 UPPSALA
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Short presentation
Matteo received his PhD in medical genetics at Uppsala University with focus on the genetics underlying different immunological diseases in dogs and humans. He also worked as a researcher on the development of bioinformatics pipelines and methods benchmarking in the context of NGS data analysis. Matteo now works within the DISSECT collaborative network. He also participates in the bioinformatics analyses of other projects in the group.
Publications
Selection of publications
- 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)
- Genetic Studies of Immunological Diseases in Dogs and Humans (2017)
- Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease (2016)
- A Multi-Breed Genome-Wide Association Analysis for Canine Hypothyroidism Identifies a Shared Major Risk Locus on CFA12 (2015)
- cgmisc (2015)
Recent publications
- A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile (2024)
- Multiple Genetic Loci Associated with Pug Dog Thoracolumbar Myelopathy (2023)
- Evolutionary constraint and innovation across hundreds of placental mammals (2023)
- Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies (2023)
- Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease (2023)
All publications
Articles
- A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile (2024)
- Multiple Genetic Loci Associated with Pug Dog Thoracolumbar Myelopathy (2023)
- Evolutionary constraint and innovation across hundreds of placental mammals (2023)
- Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies (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)
- Leveraging base-pair mammalian constraint to understand genetic variation and human disease (2023)
- Contribution of rare genetic variation to disease susceptibility in a large Scandinavian myositis cohort (2022)
- Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases (2022)
- Mer-tyrosine kinase (2022)
- Identification and Functional Characterization of a Novel Susceptibility Locus for Small Vessel Vasculitis with MPO-ANCA (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)
- Toll-like receptors revisited (2021)
- Whole-genome genotyping and resequencing reveal the association of a deletion in the complex interferon alpha gene cluster with hypothyroidism in dogs (2020)
- 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)
- Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease (2016)
- A Multi-Breed Genome-Wide Association Analysis for Canine Hypothyroidism Identifies a Shared Major Risk Locus on CFA12 (2015)
- cgmisc (2015)
- The sex-stratified genetic architecture of ankylosing spondylitis
Books
