Ann-Christine Syvänen

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
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Multi-modal single cell sequencing of B cells in primary Sjögren's Syndrome.

Arvidsson, Gustav; Czarnewski, Paulo; Johansson, Alina; Raine, Amanda et al.

Part of Arthritis & Rheumatology, p. 255-267, 2024

• DOI for Multi-modal single cell sequencing of B cells in primary Sjögren's Syndrome.
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From early methods for DNA diagnostics to genomes and epigenomes at high resolution during four decades: a personal perspective

Syvänen, Ann-Christine

Part of Upsala Journal of Medical Sciences, 2024

• DOI for From early methods for DNA diagnostics to genomes and epigenomes at high resolution during four decades: a personal perspective
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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
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Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia

Rezayee, Fatemah; Eisfeldt, Jesper; Skaftason, Aron; Ofverholm, Ingegerd et al.

Part of Frontiers in Oncology, 2023

• DOI for Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia
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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
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Multi-modal single cell sequencing of B cells in primary Sjögren's Syndrome.

Arvidsson, Gustav; Czarnewski, Paulo; Johansson, Alina; Raine, Amanda et al.

Part of Arthritis & Rheumatology, p. 255-267, 2024

• DOI for Multi-modal single cell sequencing of B cells in primary Sjögren's Syndrome.
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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
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Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia

Rezayee, Fatemah; Eisfeldt, Jesper; Skaftason, Aron; Ofverholm, Ingegerd et al.

Part of Frontiers in Oncology, 2023

• DOI for Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia
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Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia

Krali, Olga; Marincevic-Zuniga, Yanara; Arvidsson, Gustav; Enblad, Anna Pia et al.

Part of npj Precision Oncology, 2023

• DOI for Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia
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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.

Part of Arthritis & Rheumatology, p. 1440-1450, 2022

• DOI for Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases
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Contributions of de novo variants to systemic lupus erythematosus

Carlsson Almlöf, Jonas; Nystedt, Sara; Mechtidou, Aikaterini; Leonard, Dag et al.

Part of European Journal of Human Genetics, p. 184-193, 2021

• DOI for Contributions of de novo variants to systemic lupus erythematosus
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Variants in BANK1 are associated with lupus nephritis of European ancestry.

Bolin, Karin; Imgenberg-Kreuz, Juliana; Leonard, Dag; Sandling, Johanna K. et al.

Part of Genes and Immunity, p. 194-202, 2021

• DOI for Variants in BANK1 are associated with lupus nephritis of European ancestry.
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DNA Methylation-Based Interferon Scores Associate With Sub-Phenotypes in Primary Sjögren's Syndrome

Imgenberg-Kreuz, Juliana; Sandling, Johanna K.; Norheim, Katrine Braekke; Johnsen, Svein Joar Auglaend et al.

Part of Frontiers in Immunology, 2021

• DOI for DNA Methylation-Based Interferon Scores Associate With Sub-Phenotypes in Primary Sjögren's Syndrome
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Interaction between the STAT4rs11889341(T) risk allele and smoking confers increased risk of myocardial infarction and nephritis in patients with systemic lupus erythematosus

Reid, Sarah; Hagberg, Niklas; Sandling, Johanna K.; Alexsson, Andrei et al.

Part of Annals of the Rheumatic Diseases, p. 1183-1189, 2021

• DOI for Interaction between the STAT4rs11889341(T) risk allele and smoking confers increased risk of myocardial infarction and nephritis in patients with systemic lupus erythematosus
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Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing

Sandling, Johanna K.; Pucholt, Pascal; Hultin-Rosenberg, Lina; Farias, Fabiana H. G. et al.

Part of Annals of the Rheumatic Diseases, p. 109-117, 2021

• DOI for Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing
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Mutational patterns and clonal evolution from diagnosis to relapse in pediatric acute lymphoblastic leukemia

Sayyab, Shumaila; Lundmark, Anders; Larsson, Malin; Ringner, Markus et al.

Part of Scientific Reports, 2021

• DOI for Mutational patterns and clonal evolution from diagnosis to relapse in pediatric acute lymphoblastic leukemia
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High genetic risk score is associated with early disease onset, damage accrual and decreased survival in systemic lupus erythematosus

Reid, Sarah; Alexsson, Andrei; Frodlund, Martina; Morris, David et al.

Part of Annals of the Rheumatic Diseases, p. 363-369, 2020

• DOI for High genetic risk score is associated with early disease onset, damage accrual and decreased survival in systemic lupus erythematosus
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Protein and DNA methylation-based scores as surrogate markers for interferon system activation in patients with primary Sjögren's syndrome

Björk, Albin; Andersson, Elina Richardsdotter; Imgenberg-Kreuz, Juliana; Thorlacius, Gudny Ella et al.

Part of RMD Open, 2020

• DOI for Protein and DNA methylation-based scores as surrogate markers for interferon system activation in patients with primary Sjögren's syndrome
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Refined detection and phasing of structural aberrations in pediatric acute lymphoblastic leukemia by linked-read whole-genome sequencing

Nordlund, Jessica; Marincevic-Zuniga, Yanara; Cavelier, Lucia; Raine, Amanda et al.

Part of Scientific Reports, 2020

• DOI for Refined detection and phasing of structural aberrations in pediatric acute lymphoblastic leukemia by linked-read whole-genome sequencing
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Exome sequencing reveals common and rare variants in F5 associated with ACE inhibitor and angiotensin receptor blocker-induced angioedema

Maroteau, Cyrielle; Siddiqui, Moneeza Kalhan; Veluchamy, Abirami; Carr, Fiona et al.

Part of Clinical Pharmacology and Therapeutics, p. 1195-1202, 2020

• DOI for Exome sequencing reveals common and rare variants in F5 associated with ACE inhibitor and angiotensin receptor blocker-induced angioedema
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Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling

Lundtoft, Christian; Pucholt, Pascal; Imgenberg-Kreuz, Juliana; Carlsson Almlöf, Jonas et al.

Part of PLOS Genetics, 2020

• DOI for Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling
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Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia

Ivanov Öfverholm, I.; Zachariadis, V.; Taylan, F.; Marincevic-Zuniga, Yanara et al.

Part of Leukemia and Lymphoma, p. 604-613, 2020

• DOI for Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia
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Association of aberrant ASNS imprinting with asparaginase sensitivity and chromosomal abnormality in childhood BCP-ALL

Watanabe, A.; Miyake, K.; Nordlund, Jessica; Syvänen, Ann-Christine et al.

Part of Blood, p. 2319-2333, 2020

• DOI for Association of aberrant ASNS imprinting with asparaginase sensitivity and chromosomal abnormality in childhood BCP-ALL

Circulating Levels of Interferon Regulatory Factor-5 Associates With Subgroups of Systemic Lupus Erythematosus Patients.

Idborg, Helena; Zandian, Arash; Ossipova, Elena; Wigren, Edvard et al.

Part of Frontiers in Immunology, 2019

• DOI for Circulating Levels of Interferon Regulatory Factor-5 Associates With Subgroups of Systemic Lupus Erythematosus Patients.
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Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus

Almlöf, Jonas Carlsson; Nystedt, Sara; Leonard, Dag; Eloranta, Maija-Leena et al.

Part of Human Genetics, p. 141-150, 2019

• DOI for Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus
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Genetic variations in A20 DUB domain provide a genetic link to citrullination and neutrophil extracellular traps in systemic lupus erythematosus

Odqvist, Lina; Jevnikar, Zala; Riise, Rebecca; Oberg, Lisa et al.

Part of Annals of the Rheumatic Diseases, p. 1363-1370, 2019

• DOI for Genetic variations in A20 DUB domain provide a genetic link to citrullination and neutrophil extracellular traps in systemic lupus erythematosus
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Shared and Unique Patterns of DNA Methylation in Systemic Lupus Erythematosus and Primary Sjogren's Syndrome

Imgenberg-Kreuz, Juliana; Carlsson Almlöf, Jonas; Leonard, Dag; Sjöwall, Christopher et al.

Part of Frontiers in Immunology, 2019

• DOI for Shared and Unique Patterns of DNA Methylation in Systemic Lupus Erythematosus and Primary Sjogren's Syndrome
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A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts

Farias, Fabiana H. G.; Dahlqvist, Johanna; Kozyrev, Sergey V.; Leonard, Dag et al.

Part of European Journal of Human Genetics, p. 432-441, 2019

• DOI for A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts
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Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits

Morin, Andreanne; Madore, Anne-Marie; Kwan, Tony; Ban, Maria et al.

Part of European Journal of Human Genetics, p. 90-101, 2019

• DOI for Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits
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Interferon signature in patients with STAT1 gain-of-function mutation is epigenetically determined

Kaleviste, Epp; Saare, Mario; Leahy, Timothy Ronan; Bondet, Vincent et al.

Part of European Journal of Immunology, p. 790-800, 2019

• DOI for Interferon signature in patients with STAT1 gain-of-function mutation is epigenetically determined

Allele-Specific Methylation of SPDEF: A Novel Moderator of Psychosocial Stress and Substance Abuse

Tay, Nicole; Macare, Christine; Liu, Yun; Ruggeri, Barbara et al.

Part of American Journal of Psychiatry, p. 146-155, 2019

• DOI for Allele-Specific Methylation of SPDEF: A Novel Moderator of Psychosocial Stress and Substance Abuse

Neuronal Expression of Opioid Gene is Controlled by Dual Epigenetic and Transcriptional Mechanism in Human Brain

Bazov, Igor; Sarkisyan, Daniil; Kononenko, Olga; Watanabe, Hiroyuki et al.

Part of Cerebral Cortex, p. 3129-3142, 2018

• DOI for Neuronal Expression of Opioid Gene is Controlled by Dual Epigenetic and Transcriptional Mechanism in Human Brain

DNA methylation mapping identifies gene regulatory effects in patients with systemic lupus erythematosus

Imgenberg-Kreuz, Juliana; Almlöf, Jonas Carlsson; Leonard, Dag; Alexsson, Andrei et al.

Part of Annals of the Rheumatic Diseases, p. 736-743, 2018

• DOI for DNA methylation mapping identifies gene regulatory effects in patients with systemic lupus erythematosus
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Transcription profiling of peripheral B cells in antibody-positive primary Sjogren's syndrome reveals upregulated expression of CX3CR1 and a type I and type II interferon signature

Imgenberg-Kreuz, Juliana; Sandling, Johanna K.; Bjork, A.; Nordlund, J. et al.

Part of Scandinavian Journal of Immunology, 2018

• DOI for Transcription profiling of peripheral B cells in antibody-positive primary Sjogren's syndrome reveals upregulated expression of CX3CR1 and a type I and type II interferon signature
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Shared and unique patterns of DNA methylation in primary Sjogren's syndrome and systemic lupus erythematosus

Imgenberg-Kreuz, Juliana; Leonard, Dag; Carlsson Almlöf, Jonas; Rantapaa-Dahlqvist, S. et al.

Part of Scandinavian Journal of Rheumatology, p. 3-3, 2018

Novel gene variants associated with cardiovascular disease in systemic lupus erythematosus and rheumatoid arthritis

Leonard, Dag; Svenungsson, Elisabet; Dahlqvist, Johanna; Alexsson, Andrei et al.

Part of Annals of the Rheumatic Diseases, p. 1063-1069, 2018

• DOI for Novel gene variants associated with cardiovascular disease in systemic lupus erythematosus and rheumatoid arthritis
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The STAT4 SLE risk allele rs7574865[T] is associated with increased IL-12-induced IFN-γ production in T cells from patients with SLE

Hagberg, Niklas; Joelsson, Martin; Leonard, Dag; Reid, Sarah et al.

Part of Annals of the Rheumatic Diseases, p. 1070-1077, 2018

• DOI for The STAT4 SLE risk allele rs7574865[T] is associated with increased IL-12-induced IFN-γ production in T cells from patients with SLE
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De novo mutations implicate novel genes in systemic lupus erythematosus

Pullabhatla, Venu; Roberts, Amy L.; Lewis, Myles J.; Mauro, Daniele et al.

Part of Human Molecular Genetics, p. 421-429, 2018

• DOI for De novo mutations implicate novel genes in systemic lupus erythematosus
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Damaged reward areas in human alcoholics: neuronal proportion decline and astrocyte activation

Sarkisyan, Daniil; Bazov, Igor; Watanabe, Hiroyuki; Kononenko, Olga et al.

Part of Acta Neuropathologica, p. 485-487, 2017

• DOI for Damaged reward areas in human alcoholics: neuronal proportion decline and astrocyte activation

Novel risk genes for systemic lupus erythematosus predicted by random forest classification

Carlsson Almlöf, Jonas; Alexsson, Andrei; Imgenberg-Kreuz, Juliana; Sylwan, Lina et al.

Part of Scientific Reports, 2017

• DOI for Novel risk genes for systemic lupus erythematosus predicted by random forest classification
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High Genetic Risk Score Is Associated with Increased Organ Damage in SLE

Reid, Sarah; Alexsson, Andrei; Frodlund, Martina; Sandling, Johanna K. et al.

Part of Arthritis & Rheumatology, 2017

Treatment-Associated DNA Methylation Patterns in Systemic Lupus Erythematosus

Imgenberg-Kreuz, Juliana; Almlöf, Jonas Carlsson; Leonard, Dag; Nordmark, Gunnel et al.

Part of Arthritis & Rheumatology, 2017

Data Descriptor: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Flannick, Jason; Fuchsberger, Christian; Mahajan, Anubha; Teslovich, Tanya M. et al.

Part of Scientific Data, 2017

• DOI for Data Descriptor: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
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Identification of a novel proinsulin-associated SNP and demonstration that proinsulin is unlikely to be a causal factor in subclinical vascular remodelling using Mendelian randomisation

Strawbridge, Rona J.; Silveira, Angela; den Hoed, Marcel; Gustafsson, Stefan et al.

Part of Atherosclerosis, p. 196-204, 2017

• DOI for Identification of a novel proinsulin-associated SNP and demonstration that proinsulin is unlikely to be a causal factor in subclinical vascular remodelling using Mendelian randomisation
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Transcriptome sequencing in pediatric acute lymphoblastic leukemia identifies fusion genes associated with distinct DNA methylation profiles

Marincevic-Zuniga, Yanara; Dahlberg, Johan; Nilsson, Sara; Raine, Amanda et al.

Part of Journal of Hematology & Oncology, 2017

• DOI for Transcriptome sequencing in pediatric acute lymphoblastic leukemia identifies fusion genes associated with distinct DNA methylation profiles
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Transancestral mapping and genetic load in systemic lupus erythematosus

Langefeld, Carl D.; Ainsworth, Hannah C.; Graham, Deborah S. Cunninghame; Kelly, Jennifer A. et al.

Part of Nature Communications, 2017

• DOI for Transancestral mapping and genetic load in systemic lupus erythematosus
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Genetic loci associated with heart rate variability and their effects on cardiac disease risk

Nolte, Ilja M.; Munoz, M. Loretto; Tragante, Vinicius; Amare, Azmeraw T. et al.

Part of Nature Communications, 2017

• DOI for Genetic loci associated with heart rate variability and their effects on cardiac disease risk
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SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population

Ameur, Adam; Dahlberg, Johan; Olason, Pall; Vezzi, Francesco et al.

Part of European Journal of Human Genetics, p. 1253-1260, 2017

• DOI for SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population
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SPlinted Ligation Adapter Tagging (SPLAT), a novel library preparation method for whole genome bisulphite sequencing

Raine, Amanda; Manlig, Erika; Wahlberg, Per; Syvänen, Ann-Christine et al.

Part of Nucleic Acids Research, 2017

• DOI for SPlinted Ligation Adapter Tagging (SPLAT), a novel library preparation method for whole genome bisulphite sequencing
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A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

Manning, Alisa; Highland, Heather M.; Gasser, Jessica; Sim, Xueling et al.

Part of Diabetes, p. 2019-2032, 2017

• DOI for A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

Epigenome-wide DNA methylation patterns associated with fatigue in primary Sjogren's syndrome

Norheim, Katrine Braekke; Imgenberg-Kreuz, Juliana; Jonsdottir, Kristin; Janssen, Emiel A. M. et al.

Part of Rheumatology, p. 1074-1082, 2016

• DOI for Epigenome-wide DNA methylation patterns associated with fatigue in primary Sjogren's syndrome

Genome-wide DNA methylation analysis in multiple tissues in primary Sjögren's syndrome reveals regulatory effects at interferon-induced genes

Imgenberg-Kreuz, Juliana; Sandling, Johanna K.; Almlöf, Jonas Carlsson; Nordlund, Jessica et al.

Part of Annals of the Rheumatic Diseases, p. 2029-2036, 2016

• DOI for Genome-wide DNA methylation analysis in multiple tissues in primary Sjögren's syndrome reveals regulatory effects at interferon-induced genes
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C1qtnf4 Mutation Identified by Exome Sequencing Is Associated with Systemic Lupus Erythematosus and Dysregulation of Tnf-Induced Apoptosis

Mauro, D.; Lewis, M. J.; Pullabhatla, V.; Vyse, S. et al.

Part of Annals of the Rheumatic Diseases, p. 145-154, 2016

• DOI for C1qtnf4 Mutation Identified by Exome Sequencing Is Associated with Systemic Lupus Erythematosus and Dysregulation of Tnf-Induced Apoptosis

Identification of novel genetic causes of Rett syndrome-like phenotypes

Lopes, Fatima; Barbosa, Mafalda; Ameur, Adam; Soares, Gabriela et al.

Part of Journal of Medical Genetics, p. 190-199, 2016

• DOI for Identification of novel genetic causes of Rett syndrome-like phenotypes

Genome-wide association and Mendelian randomization study of NT-proBNP in patients with acute coronary syndrome

Johansson, Åsa; Eriksson, Niclas; Lindholm, Daniel; Varenhorst, Christoph et al.

Part of Human Molecular Genetics, p. 1447-1456, 2016

• DOI for Genome-wide association and Mendelian randomization study of NT-proBNP in patients with acute coronary syndrome

Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells

Morin, Andreanne; Kwan, Tony; Ge, Bing; Letourneau, Louis et al.

Part of BMC Medical Genomics, 2016

• DOI for Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells
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The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

Ehret, Georg B.; Ferreira, Teresa; Chasman, Daniel I.; Jackson, Anne U. et al.

Part of Nature Genetics, p. 1171-1184, 2016

• DOI for The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

DNA methylome analysis of acute lymphoblastic leukemia cells reveals stochastic de novo DNA methylation in CpG islands

Wahlberg, Per; Lundmark, Anders; Nordlund, Jessica; Busche, Stephan et al.

Part of Epigenomics, p. 1367-1387, 2016

• DOI for DNA methylome analysis of acute lymphoblastic leukemia cells reveals stochastic de novo DNA methylation in CpG islands
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Deep targeted sequencing in pediatric acute lymphoblastic leukemia unveils distinct mutational patterns between genetic subtypes and novel relapse-associated genes

Lindqvist, C. Mårten; Lundmark, Anders; Nordlund, Jessica; Freyhult, Eva et al.

Part of Oncotarget, p. 64071-64088, 2016

• DOI for Deep targeted sequencing in pediatric acute lymphoblastic leukemia unveils distinct mutational patterns between genetic subtypes and novel relapse-associated genes

The genetic architecture of type 2 diabetes

Fuchsberger, Christian; Flannick, Jason; Teslovich, Tanya M.; Mahajan, Anubha et al.

Part of Nature, p. 41-47, 2016

• DOI for The genetic architecture of type 2 diabetes

CopyNumber450kCancer: baseline correction for accurate copy number calling from the 450k methylation array

Marzouka, Nour-al-dain; Nordlund, Jessica; Bäcklin, Christofer L.; Lönnerholm, Gudmar et al.

Part of Bioinformatics, p. 1080-1082, 2016

• DOI for CopyNumber450kCancer: baseline correction for accurate copy number calling from the 450k methylation array
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PAX5-ESRRB is a recurrent fusion gene in B-cell precursor pediatric acute lymphoblastic leukemia

Marincevic-Zuniga, Yanara; Zachariadis, Vasilios; Cavelier, Lucia; Castor, Anders et al.

Part of Haematologica, 2016

• DOI for PAX5-ESRRB is a recurrent fusion gene in B-cell precursor pediatric acute lymphoblastic leukemia

Genetic determinants of warfarin maintenance dose and time in therapeutic treatment range: a RE-LY genomics substudy

Eriksson, Niclas; Wallentin, Lars; Berglund, Lars; Axelsson, Tomas et al.

Part of Pharmacogenomics (London), p. 1425-1439, 2016

• DOI for Genetic determinants of warfarin maintenance dose and time in therapeutic treatment range: a RE-LY genomics substudy
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Epigenetic profiling in CD4+and CD8+T cells from Graves' disease patients reveals changes in genes associated with T cell receptor signaling

Limbach, Maia; Saare, Mario; Tserel, Liina; Kisand, Kai et al.

Part of Journal of Autoimmunity, p. 46-56, 2016

• DOI for Epigenetic profiling in CD4+and CD8+T cells from Graves' disease patients reveals changes in genes associated with T cell receptor signaling

Genome-wide repression of eRNA and target gene loci by the ETV6-RUNX1 fusion in acute leukemia

Teppo, Susanna; Laukkanen, Saara; Liuksiala, Thomas; Nordlund, Jessica et al.

Part of Genome Research, p. 1468-1477, 2016

• DOI for Genome-wide repression of eRNA and target gene loci by the ETV6-RUNX1 fusion in acute leukemia
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Soluble CD93 Is Involved in Metabolic Dysregulation but Does Not Influence Carotid Intima-Media Thickness

Strawbridge, Rona J.; Hilding, Agneta; Silveira, Angela; Österholm, Cecilia et al.

Part of Diabetes, p. 2888-2899, 2016

• DOI for Soluble CD93 Is Involved in Metabolic Dysregulation but Does Not Influence Carotid Intima-Media Thickness

A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.

Madrigal, Irene; Alvarez-Mora, Maria Isabel; Rosell, Jordi; Rodríguez-Revenga, Laia et al.

Part of European Journal of Human Genetics, p. 1117-1123, 2016

• DOI for A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.

IFN-α production by plasmacytoid dendritic cell associations with polymorphisms in gene loci related to autoimmune and inflammatory diseases

Berggren, Olof; Alexsson, Andrei; Morris, David; Tandre, Karolina et al.

Part of Human Molecular Genetics, p. 3571-3581, 2015

• DOI for IFN-α production by plasmacytoid dendritic cell associations with polymorphisms in gene loci related to autoimmune and inflammatory diseases

Genome-wide analysis of DNA methylation in systemic lupus erythematosus

Sandling, Johanna K.; Imgenberg-Kreuz, Juliana; Carlsson Almlöf, Jonas; Nordmark, Gunnel et al.

Part of Clinical and Experimental Rheumatology, 2015

Epigenome-Wide DNA Methylation Patterns Associated with Fatigue in Primary Sjogren's Syndrome

Norheim, Katrine B.; Imgenberg-Kreuz, Juliana; Jonsdottir, Kristin; Janssen, Emiel et al.

Part of Arthritis & Rheumatology, 2015

• DOI for Epigenome-Wide DNA Methylation Patterns Associated with Fatigue in Primary Sjogren's Syndrome

Hypomethylation in Enhancer and Promoter Regions of Interferon Regulated Genes in Multiple Tissues Is Associated with Primary Sjogren's Syndrome

Imgenberg-Kreuz, Juliana; Sandling, Johanna K.; Almlöf, Jonas Carlsson; Nordlund, Jessica et al.

Part of Arthritis & Rheumatology, 2015

• DOI for Hypomethylation in Enhancer and Promoter Regions of Interferon Regulated Genes in Multiple Tissues Is Associated with Primary Sjogren's Syndrome

Hormone Replacement Therapy Associated White Blood Cell DNA Methylation and Gene Expression are Associated With Within-Pair Differences of Body Adiposity and Bone Mass

Bahl, Aileen; Pöllänen, Eija; Ismail, Khadeeja; Sipilä, Sarianna et al.

Part of Twin Research and Human Genetics, p. 647-661, 2015

• DOI for Hormone Replacement Therapy Associated White Blood Cell DNA Methylation and Gene Expression are Associated With Within-Pair Differences of Body Adiposity and Bone Mass

The Mutational Landscape in Pediatric Acute Lymphoblastic Leukemia Deciphered by Whole Genome Sequencing

Lindqvist, C Mårten; Nordlund, Jessica; Ekman, Diana; Johansson, Anna et al.

Part of Human Mutation, p. 118-128, 2015

• DOI for The Mutational Landscape in Pediatric Acute Lymphoblastic Leukemia Deciphered by Whole Genome Sequencing

Effect of genetic variations on ticagrelor plasma levels and clinical outcomes

Varenhorst, Christoph; Eriksson, Niclas; Johansson, Åsa; Barratt, Bryan J. et al.

Part of European Heart Journal, p. 1901-1912, 2015

• DOI for Effect of genetic variations on ticagrelor plasma levels and clinical outcomes

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

Winkler, Thomas W.; Justice, Anne E.; Graff, Mariaelisa; Barata, Llilda et al.

Part of PLOS Genetics, 2015

• DOI for The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study
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Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus

Bentham, James; Morris, David L; Cunninghame Graham, Deborah S; Pinder, Christopher L et al.

Part of Nature Genetics, p. 1457-1464, 2015

• DOI for Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus

NLRC4 Inflammasome Is an Important Regulator of Interleukin-18 Levels in Patients With Acute Coronary Syndromes Genome-Wide Association Study in the PLATelet inhibition and patient Outcomes Trial (PLATO)

Johansson, Åsa; Eriksson, Niclas; Becker, Richard C.; Storey, Robert F. et al.

Part of Circulation, p. 498-506, 2015

• DOI for NLRC4 Inflammasome Is an Important Regulator of Interleukin-18 Levels in Patients With Acute Coronary Syndromes Genome-Wide Association Study in the PLATelet inhibition and patient Outcomes Trial (PLATO)

GWAS-identified loci for coronary heart disease are associated with intima-media thickness and plaque presence at the carotid artery bulb

den Hoed, Marcel; Strawbridge, Rona J; Almgren, Peter; Gustafsson, Stefan et al.

Part of Atherosclerosis, p. 304-310, 2015

• DOI for GWAS-identified loci for coronary heart disease are associated with intima-media thickness and plaque presence at the carotid artery bulb

Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample

Ng, Esther; Salihovic, Samira; Lind, P. Monica; Mahajan, Anubha et al.

Part of Environmental Research, p. 95-101, 2015

• DOI for Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample
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Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus

Mahajan, Anubha; Sim, Xueling; Ng, Hui Jin; Manning, Alisa et al.

Part of PLOS Genetics, 2015

• DOI for Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus
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Adiposity as a cause of cardiovascular disease: a Mendelian randomization study

Hägg, Sara; Fall, Tove; Ploner, Alexander; Maegi, Reedik et al.

Part of International Journal of Epidemiology, p. 578-586, 2015

• DOI for Adiposity as a cause of cardiovascular disease: a Mendelian randomization study

New genetic loci link adipose and insulin biology to body fat distribution

Shungin, Dmitry; Winkler, Thomas W; Croteau-Chonka, Damien C; Ferreira, Teresa et al.

Part of Nature, p. 187-196, 2015

• DOI for New genetic loci link adipose and insulin biology to body fat distribution

Age- and sex-specific causal effects of adiposity on cardiovascular risk factors

Fall, Tove; Hägg, Sara; Ploner, Alexander; Mägi, Reedik et al.

Part of Diabetes, p. 1841-1852, 2015

• DOI for Age- and sex-specific causal effects of adiposity on cardiovascular risk factors

Genetic studies of body mass index yield new insights for obesity biology

Locke, Adam E; Kahali, Bratati; Berndt, Sonja I; Justice, Anne E et al.

Part of Nature, p. 197-206, 2015

• DOI for Genetic studies of body mass index yield new insights for obesity biology

DNA methylation-based subtype prediction for pediatric acute lymphoblastic leukemia

Nordlund, Jessica; Bäcklin, Christofer; Zachariadis, Vasilios; Cavelier, Lucia et al.

Part of Clinical Epigenetics, 2015

• DOI for DNA methylation-based subtype prediction for pediatric acute lymphoblastic leukemia
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Defining the role of common variation in the genomic and biological architecture of adult human height

Wood, Andrew R; Esko, Tonu; Yang, Jian; Vedantam, Sailaja et al.

Part of Nature Genetics, p. 1173-1186, 2014

• DOI for Defining the role of common variation in the genomic and biological architecture of adult human height

Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs

Adoue, Veronique; Schiavi, Alicia; Light, Nicholas; Carlsson Almlöf, Jonas et al.

Part of Molecular Systems Biology, p. 754, 2014

• DOI for Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs
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A Central Role for GRB10 in Regulation of Islet Function in Man

Prokopenko, Inga; Poon, Wenny; Mägi, Reedik; Prasad B, Rashmi et al.

Part of PLOS Genetics, 2014

• DOI for A Central Role for GRB10 in Regulation of Islet Function in Man
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Influence of coronary artery disease-associated genetic variants on risk of venous thromboembolism

Bruzelius, Maria; Strawbridge, Rona J; Trégouët, David-Alexandre; Wiggins, Kerri L et al.

Part of Thrombosis Research, p. 426-432, 2014

• DOI for Influence of coronary artery disease-associated genetic variants on risk of venous thromboembolism

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

Arking, Dan E; Pulit, Sara L; Crotti, Lia; van der Harst, Pim et al.

Part of Nature Genetics, p. 826-836, 2014

• DOI for Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

Single nucleotide polymorphisms with cis-regulatory effects on long non-coding transcripts in human primary monocytes

Almlöf, Jonas; Lundmark, Per; Lundmark, Anders; Ge, Bing et al.

Part of PLOS ONE, 2014

• DOI for Single nucleotide polymorphisms with cis-regulatory effects on long non-coding transcripts in human primary monocytes
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Genetic variation in the CYP2B6 Gene is related to circulating 2,2',4,4'-tetrabromodiphenyl ether (BDE-47) concentrations: an observational population-based study

Penell, Johanna; Lind, Lars; Fall, Tove; Syvänen, Ann-Christine et al.

Part of Environmental Health, p. 34, 2014

• DOI for Genetic variation in the CYP2B6 Gene is related to circulating 2,2',4,4'-tetrabromodiphenyl ether (BDE-47) concentrations: an observational population-based study
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Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes

Madrigal, Irene; Isabel Alvarez-Mora, Maria; Karlberg, Olof; Rodriguez-Revenga, Laia et al.

Part of Journal of Clinical Pathology, p. 1099-1103, 2014

• DOI for Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes

Genetic variation in the CYP1A1 gene is related to circulating PCB118 levels in a population-based sample

Lind, Lars; Penell, Johanna; Syvänen, Ann-Christine; Axelsson, Tomas et al.

Part of Environmental Research, p. 135-140, 2014

• DOI for Genetic variation in the CYP1A1 gene is related to circulating PCB118 levels in a population-based sample

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

Mahajan, Anubha; Go, Min Jin; Zhang, Weihua; Below, Jennifer E et al.

Part of Nature Genetics, p. 234-244, 2014

• DOI for Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

Genome-wide signatures of differential DNA methylation in pediatric acute lymphoblastic leukemia

Nordlund, Jessica; Bäcklin, Christofer L; Wahlberg, Per; Busche, Stephan et al.

Part of Genome Biology, 2013

• DOI for Genome-wide signatures of differential DNA methylation in pediatric acute lymphoblastic leukemia

Global DNA hypermethylation is associated with high serum levels of persistent organic pollutants in an elderly population

Lind, Lars; Penell, Johanna; Luttropp, Karin; Nordfors, Louise et al.

Part of Environment International, p. 456-461, 2013

• DOI for Global DNA hypermethylation is associated with high serum levels of persistent organic pollutants in an elderly population

Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories

't Hoen, Peter A C; Friedländer, Marc R; Almlöf, Jonas; Sammeth, Michael et al.

Part of Nature Biotechnology, p. 1015-1022, 2013

• DOI for Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories

Association of genes in the NF-κB pathway with antibody positive primary Sjögren's syndrome

Nordmark, Gunnel; Wang, Chuan; Vasaitis, Lilian; Eriksson, Per et al.

Part of Scandinavian Journal of Immunology, p. 447-454, 2013

• DOI for Association of genes in the NF-κB pathway with antibody positive primary Sjögren's syndrome

Transcriptome and genome sequencing uncovers functional variation in humans

Lappalainen, Tuuli; Sammeth, Michael; Friedländer, Marc R; 't Hoen, Peter A C et al.

Part of Nature, p. 506-511, 2013

• DOI for Transcriptome and genome sequencing uncovers functional variation in humans

Genetic variation in the dimethylarginine dimethylaminohydrolase 1 gene (DDAH1) is related to asymmetric dimethylarginine (ADMA) levels, but not to endothelium-dependent vasodilation

Lind, Lars; Ingelsson, Erik; Kumar, Jitender; Syvänen, Ann-Christine et al.

Part of Vascular Medicine, p. 192-199, 2013

• DOI for Genetic variation in the dimethylarginine dimethylaminohydrolase 1 gene (DDAH1) is related to asymmetric dimethylarginine (ADMA) levels, but not to endothelium-dependent vasodilation

Accurate detection of subclonal single nucleotide variants in whole genome amplified and pooled cancer samples using HaloPlex target enrichment

Berglund, Eva C; Lindqvist, Carl Mårten; Hayat, Shahina; Overnäs, Elin et al.

Part of BMC Genomics, p. 856, 2013

• DOI for Accurate detection of subclonal single nucleotide variants in whole genome amplified and pooled cancer samples using HaloPlex target enrichment

Contribution of IKBKE and IFIH1 gene variants to SLE susceptibility

Wang, Chuan; Ahlford, Annika; Laxman, Navya; Nordmark, Gunnel et al.

Part of Genes and Immunity, p. 217-222, 2013

• DOI for Contribution of IKBKE and IFIH1 gene variants to SLE susceptibility
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Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations

Wang, Chuan; Ahlford, Annika; Järvinen, Tiina M; Nordmark, Gunnel et al.

Part of European Journal of Human Genetics, p. 994-999, 2013

• DOI for Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations

A gene-centric study of common carotid artery remodelling

Harrison, Seamus C.; Zabaneh, Delilah; Asselbergs, Folkert W.; Drenos, Fotios et al.

Part of Atherosclerosis, p. 440-446, 2013

• DOI for A gene-centric study of common carotid artery remodelling

Are There Any Causal Relations Between Growth Differentiation Factor 15 and Outcomes in Patients With Acute Coronary Syndrome?: - A Report From the Plato Gwas Study

Hagström, Emil; Eriksson, Niclas; Johansson, Åsa; Bertilsson, Maria et al.

Part of Circulation, 2013

Genetic Variants from Lipid-Related Pathways and Risk for Incident Myocardial Infarction

Song, Ci; Pedersen, Nancy L.; Reynolds, Chandra A.; Sabater-Lleal, Maria et al.

Part of PLOS ONE, 2013

• DOI for Genetic Variants from Lipid-Related Pathways and Risk for Incident Myocardial Infarction
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Association of STAT4 Polymorphism with Severe Renal Insufficiency in Lupus Nephritis

Bolin, Karin; Sandling, Johanna K; Zickert, Agneta; Jönsen, Andreas et al.

Part of PLOS ONE, 2013

• DOI for Association of STAT4 Polymorphism with Severe Renal Insufficiency in Lupus Nephritis
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Large-scale association analysis identifies new risk loci for coronary artery disease

Deloukas, Panos; Kanoni, Stavroula; Willenborg, Christina; Farrall, Martin et al.

Part of Nature Genetics, p. 25-33, 2013

• DOI for Large-scale association analysis identifies new risk loci for coronary artery disease

HLA-DRB1*04/*13 alleles are associated with vascular disease and antiphospholipid antibodies in systemic lupus erythematosus

Lundström, Emeli; Gustafsson, Johanna T; Jönsen, Andreas; Leonard, Dag et al.

Part of Annals of the Rheumatic Diseases, p. 1018-1025, 2013

• DOI for HLA-DRB1*04/*13 alleles are associated with vascular disease and antiphospholipid antibodies in systemic lupus erythematosus

Genome-wide profiling of target genes for the systemic lupus erythematosus-associated transcription factors IRF5 and STAT4

Wang, Chuan; Sandling, Johanna K; Hagberg, Niklas; Berggren, Olof et al.

Part of Annals of the Rheumatic Diseases, p. 96-103, 2013

• DOI for Genome-wide profiling of target genes for the systemic lupus erythematosus-associated transcription factors IRF5 and STAT4

The Role of Adiposity in Cardiometabolic Traits: A Mendelian Randomization Analysis

Fall, Tove; Hägg, Sara; Maegi, Reedik; Ploner, Alexander et al.

Part of PLoS Medicine, 2013

• DOI for The Role of Adiposity in Cardiometabolic Traits: A Mendelian Randomization Analysis
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Higher Magnesium Intake Is Associated with Lower Fasting Glucose and Insulin, with No Evidence of Interaction with Select Genetic Loci, in a Meta-Analysis of 15 CHARGE Consortium Studies

Hruby, Adela; Ngwa, Julius S.; Renstrom, Frida; Wojczynski, Mary K. et al.

Part of Journal of Nutrition, p. 345-353, 2013

• DOI for Higher Magnesium Intake Is Associated with Lower Fasting Glucose and Insulin, with No Evidence of Interaction with Select Genetic Loci, in a Meta-Analysis of 15 CHARGE Consortium Studies

Genetic Determinants of Dabigatran Plasma Levels and Their Relation to Bleeding

Paré, Guillaume; Eriksson, Niclas; Lehr, Thorsten; Connolly, Stuart et al.

Part of Circulation, p. 1404, 2013

• DOI for Genetic Determinants of Dabigatran Plasma Levels and Their Relation to Bleeding

Identification of a Functional Apolipoprotein E Promoter Polymorphism Regulating Plasma Apolipoprotein E Concentration

Nastase Mannila, Maria; Mahdessian, Hovsep; Franco-Cereceda, Anders; Eggertsen, Gösta et al.

Part of Arteriosclerosis, Thrombosis and Vascular Biology, p. 1063-1069, 2013

• DOI for Identification of a Functional Apolipoprotein E Promoter Polymorphism Regulating Plasma Apolipoprotein E Concentration

Coronary heart disease in systemic lupus erythematosus is associated with interferon regulatory factor-8 gene variants

Leonard, Dag; Svenungsson, Elisabet; Sandling, Johanna K; Berggren, Olof et al.

Part of Circulation, p. 255-263, 2013

• DOI for Coronary heart disease in systemic lupus erythematosus is associated with interferon regulatory factor-8 gene variants

Variation in genes in the endothelin pathway and endothelium-dependent and endothelium-independent vasodilation in an elderly population

Lind, Lars; Syvänen, Ann-Christine; Axelsson, Tomas; Lundmark, Per et al.

Part of Acta Physiologica, p. 88-94, 2013

• DOI for Variation in genes in the endothelin pathway and endothelium-dependent and endothelium-independent vasodilation in an elderly population

SNP in TXNRD2 Associated With Radiation-Induced Fibrosis: A Study of Genetic Variation in Reactive Oxygen Species Metabolism and Signaling.

Edvardsen, Hege; Landmark-Høyvik, Hege; Reinertsen, Kristin V; Zhao, Xi et al.

Part of International journal of radiation oncology, biology, physics, p. 791-9, 2013

• DOI for SNP in TXNRD2 Associated With Radiation-Induced Fibrosis: A Study of Genetic Variation in Reactive Oxygen Species Metabolism and Signaling.

Association of STAT4, IRF5 and BLK polymorphisms with severity and outcome in lupus nephritis

Eriksson, Karin G.; Zickert, Agneta; Sandling, Johanna K.; Jonsen, Andreas et al.

Part of Annals of the Rheumatic Diseases, 2012

• DOI for Association of STAT4, IRF5 and BLK polymorphisms with severity and outcome in lupus nephritis

Association between genetic variants in the tumour necrosis factor/lymphotoxin α/lymphotoxin β locus and primary Sjogren's syndrome in Scandinavian samples

Bolstad, Anne Isine; Le Hellard, Stephanie; Kristjansdottir, Gudlaug; Vasaitis, Lilian et al.

Part of Annals of the Rheumatic Diseases, p. 981-988, 2012

• DOI for Association between genetic variants in the tumour necrosis factor/lymphotoxin α/lymphotoxin β locus and primary Sjogren's syndrome in Scandinavian samples

Variants in the HHEX gene are associated with biochemical markers for beta-cell function in the ULSAM cohort

Dahlgren, Andreas; Zethelius, Björn; Eriksson, Niklas; Lundmark, Per et al.

2012

Polymorphisms in the Interferon Regulatory Factor 5 Gene are Associated with Anti-cyclic Citrullinated Peptide Antibody Negative Rheumatoid Arthritis

Sigurdsson, Snaevar; Padyukov, Leonid; Liljedahl, Ulrika; Alfredsson, Lars et al.

2012

DNA Methylation Analysis of Bone Marrow Cells at Diagnosis of Acute Lymphoblastic Leukemia and at Remission

Nordlund, Jessica; Milani, Lili; Lundmark, Anders; Lönnerholm, Gudmar et al.

Part of PLOS ONE, 2012

• DOI for DNA Methylation Analysis of Bone Marrow Cells at Diagnosis of Acute Lymphoblastic Leukemia and at Remission
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Powerful Identification of Cis-regulatory SNPs in Human Primary Monocytes Using Allele-Specific Gene Expression

Almlöf, Jonas Carlsson; Lundmark, Per; Lundmark, Anders; Ge, B. et al.

Part of PLOS ONE, 2012

• DOI for Powerful Identification of Cis-regulatory SNPs in Human Primary Monocytes Using Allele-Specific Gene Expression
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Digital gene expression profiling of primary acute lymphoblastic leukemia cells

Nordlund, Jessica; Kiialainen, Anna; Karlberg, Olof; Berglund, Eva C et al.

Part of Leukemia, p. 1218-1227, 2012

• DOI for Digital gene expression profiling of primary acute lymphoblastic leukemia cells

The DNA Methylation Landscape of Paediatric Acute Lymphoblastic Leukemia

Nordlund, Jessica; Backlin, Carin; Wahlberg, Per; Forestier, E. et al.

Part of European Journal of Cancer, 2012

• DOI for The DNA Methylation Landscape of Paediatric Acute Lymphoblastic Leukemia

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

Morris, Andrew P.; Voight, Benjamin F.; Teslovich, Tanya M.; Ferreira, Teresa et al.

Part of Nature Genetics, p. 981-+, 2012

• DOI for Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

Evidence of association between interferon regulatory factor 5 gene polymorphisms and asthma

Wang, Chuan; Rose-Zerilli, Matthew J; Koppelman, Gerard H; Sandling, Johanna K et al.

Part of Gene, p. 220-225, 2012

• DOI for Evidence of association between interferon regulatory factor 5 gene polymorphisms and asthma

Common and Low-Frequency Genetic Variants in the PCSK9 Locus Influence Circulating PCSK9 Levels

Chernogubova, Ekaterina; Strawbridge, Rona; Mahdessian, Hovsep; Malarstig, Anders et al.

Part of Arteriosclerosis, Thrombosis and Vascular Biology, p. 1526-1534, 2012

• DOI for Common and Low-Frequency Genetic Variants in the PCSK9 Locus Influence Circulating PCSK9 Levels

The transcriptome of the adenovirus infected cell

Zhao, Hongxing; Dahlö, Martin; Isaksson, Anders; Syvänen, Ann-Christine et al.

Part of Virology, p. 115-128, 2012

• DOI for The transcriptome of the adenovirus infected cell

Novel Loci for Adiponectin Levels and Their Influence on Type 2 Diabetes and Metabolic Traits: A Multi-Ethnic Meta-Analysis of 45,891 Individuals

Dastani, Zari; Hivert, Marie-France; Timpson, Nicholas; Perry, John R. B. et al.

Part of PLOS Genetics, 2012

• DOI for Novel Loci for Adiponectin Levels and Their Influence on Type 2 Diabetes and Metabolic Traits: A Multi-Ethnic Meta-Analysis of 45,891 Individuals

Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene

Davison, Lucy J; Wallace, Chris; Cooper, Jason D; Cope, Nathan F et al.

Part of Human Molecular Genetics, p. 322-333, 2012

• DOI for Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene

Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation

Huang, Jie; Sabater-Lleal, Maria; Asselbergs, Folkert W; Tregouet, David et al.

Part of Blood, p. 4873-81, 2012

• DOI for Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation

A Genome-Wide Association Study of Monozygotic Twin-Pairs Suggests a Locus Related to Variability of Serum High-Density Lipoprotein Cholesterol

Surakka, Ida; Whitfield, John B; Perola, Markus; Visscher, Peter M et al.

Part of Twin Research and Human Genetics, p. 691-699, 2012

• DOI for A Genome-Wide Association Study of Monozygotic Twin-Pairs Suggests a Locus Related to Variability of Serum High-Density Lipoprotein Cholesterol

Identification of the BCAR1-CFDP1-TMEM170A Locus as a Determinant of Carotid Intima-Media Thickness and Coronary Artery Disease Risk

Gertow, Karl; Sennblad, Bengt; Strawbridge, Rona J; Ohrvik, John et al.

Part of Circulation, p. 656-665, 2012

• DOI for Identification of the BCAR1-CFDP1-TMEM170A Locus as a Determinant of Carotid Intima-Media Thickness and Coronary Artery Disease Risk

A genome-wide association search for type 2 diabetes genes in African Americans.

Palmer, Nicholette D; McDonough, Caitrin W; Hicks, Pamela J; Roh, Bong H et al.

Part of PloS one, 2012

• DOI for A genome-wide association search for type 2 diabetes genes in African Americans.
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Preferential Association of Interferon Regulatory Factor 5 Gene Variants with Seronegative Rheumatoid Arthritis in 2 Swedish Case-Control Studies

Wang, Chuan; Kokkonen, Heidi; Sandling, Johanna K.; Johansson, Martin et al.

Part of Journal of Rheumatology, p. 2130-2132, 2011

• DOI for Preferential Association of Interferon Regulatory Factor 5 Gene Variants with Seronegative Rheumatoid Arthritis in 2 Swedish Case-Control Studies

Next generation sequencing technologies and applications for human Genetic History and Forensics

Berglund, Eva C; Kiialainen, Anna; Syvänen, Ann-Christine

Part of Investigative Genetics, p. 23, 2011

• DOI for Next generation sequencing technologies and applications for human Genetic History and Forensics

Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome

Nordmark, Gunnel; Kristjansdottir, Gudlaug; Theander, E.; Appel, S. et al.

Part of Genes and Immunity, p. 100-109, 2011

• DOI for Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome

Fetal, Developmental, and Parental Influences on Cystatin C in Childhood: The Uppsala Family Study

Nitsch, Dorothea; Sandling, Johanna K.; Byberg, Liisa; Larsson, Anders et al.

Part of American Journal of Kidney Diseases, p. 863-872, 2011

• DOI for Fetal, Developmental, and Parental Influences on Cystatin C in Childhood: The Uppsala Family Study

Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

Kilpelainen, Tuomas O.; Zillikens, M. Carola; Stancakova, Alena; Finucane, Francis M. et al.

Part of Nature Genetics, p. 753-U58, 2011

• DOI for Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Sawcer, Stephen; Hellenthal, Garrett; Pirinen, Matti; Spencer, Chris C. A. et al.

Part of Nature, p. 214-219, 2011

• DOI for Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Performance of Microarray and Liquid Based Capture Methods for Target Enrichment for Massively Parallel Sequencing and SNP Discovery

Kiialainen, Anna; Karlberg, Olof; Ahlford, Annika; Sigurdsson, Snaevar et al.

Part of PLoS ONE, 2011

• DOI for Performance of Microarray and Liquid Based Capture Methods for Target Enrichment for Massively Parallel Sequencing and SNP Discovery

CUBN Is a Gene Locus for Albuminuria

Boeger, Carsten A.; Chen, Ming-Huei; Tin, Adrienne; Olden, Matthias et al.

Part of Journal of the American Society of Nephrology, p. 555-570, 2011

• DOI for CUBN Is a Gene Locus for Albuminuria

A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease

Peden, John F.; Hopewell, Jemma C.; Saleheen, Danish; Chambers, John C. et al.

Part of Nature Genetics, p. 339-344, 2011

• DOI for A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease

A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE

Sandling, Johanna K.; Garnier, Sophie; Sigurdsson, Snaevar; Wang, Chuan et al.

Part of European Journal of Human Genetics, p. 479-484, 2011

• DOI for A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE

Association between Common Variation at the FTO Locus and Changes in Body Mass Index from Infancy to Late Childhood: The Complex Nature of Genetic Association through Growth and Development

Sovio, Ulla; Mook-Kanamori, Dennis O.; Warrington, Nicole M.; Lawrence, Robert et al.

Part of PLoS Genetics, 2011

• DOI for Association between Common Variation at the FTO Locus and Changes in Body Mass Index from Infancy to Late Childhood: The Complex Nature of Genetic Association through Growth and Development

Salt-inducible kinase 1 influences Na+,K+-ATPase activity in vascular smooth muscle cells and associates with variations in blood pressure

Popov, Sergej; Silveira, Angela; Wågsäter, Dick; Takemori, Hiroshi et al.

Part of Journal of Hypertension, p. 2395-2403, 2011

• DOI for Salt-inducible kinase 1 influences Na+,K+-ATPase activity in vascular smooth muscle cells and associates with variations in blood pressure

Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes

Strawbridge, Rona J.; Dupuis, Josee; Prokopenko, Inga; Barker, Adam et al.

Part of Diabetes, p. 2624-2634, 2011

• DOI for Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes

Total zinc intake may modify the glucose-raising effect of a zinc transporter (SLC30A8) variant: a 14-cohort meta-analysis

Kanoni, Stavroula; Nettleton, Jennifer A.; Hivert, Marie-France; Ye, Zheng et al.

Part of Diabetes, p. 2407-2416, 2011

• DOI for Total zinc intake may modify the glucose-raising effect of a zinc transporter (SLC30A8) variant: a 14-cohort meta-analysis

Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with Systemic Lupus Erythematosus

Cunninghame Graham, Deborah S; Morris, David L; Bhangale, Tushar R; Criswell, Lindsey A et al.

Part of PLoS genetics, 2011

• DOI for Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with Systemic Lupus Erythematosus

First generation microarray-system for identification of primate species subject to bushmeat trade

Rönn, Ann-Charlotte; Andrés, Olga; López-Giráldez, Franscesc; Johnsson-Glans, Cecilia et al.

Part of Endangered Species Research, p. 133-142, 2010

• DOI for First generation microarray-system for identification of primate species subject to bushmeat trade

Coffee consumption and CYP1A2 genotype in relation to bone mineral density of the proximal femur in elderly men and women: a cohort study

Hallström, Helena; Melhus, Håkan; Glynn, Anders; Lind, Lars et al.

Part of Nutrition & Metabolism, p. 12, 2010

• DOI for Coffee consumption and CYP1A2 genotype in relation to bone mineral density of the proximal femur in elderly men and women: a cohort study
• Download full text (pdf) of Coffee consumption and CYP1A2 genotype in relation to bone mineral density of the proximal femur in elderly men and women: a cohort study

DNA methylation for subtype classification and prediction of treatment outcome in patients with childhood acute lymphoblastic leukemia

Milani, Lili; Lundmark, Anders; Kiialainen, Anna; Nordlund, Jessica et al.

Part of Blood, p. 1214-1225, 2010

• DOI for DNA methylation for subtype classification and prediction of treatment outcome in patients with childhood acute lymphoblastic leukemia

Genetic variation in the ddah-1 gene in relation to adma levels and endothelial function

Granroth, Sofie; Syvänen, Ann-Christine; Lind, Lars; Kurland, L.

Part of Journal of Hypertension, 2010

• DOI for Genetic variation in the ddah-1 gene in relation to adma levels and endothelial function

Dried reagents for multiplex genotyping by tag-array minisequencing to be used in microfluidic devices

Ahlford, Annika; Kjeldsen, Bastian; Reimers, Jakob; Lundmark, Anders et al.

Part of The Analyst, p. 2377-2385, 2010

• DOI for Dried reagents for multiplex genotyping by tag-array minisequencing to be used in microfluidic devices

Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans

Ingelsson, Erik; Langenberg, Claudia; Hivert, Marie-France; Prokopenko, Inga et al.

Part of Diabetes, p. 1266-1275, 2010

• DOI for Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans

Niemann-Pick C1 modulates hepatic triglyceride metabolism and its genetic variation contributes to serum triglyceride levels

Uronen, Riikka-Liisa; Lundmark, Per; Orho-Melander, Marju; Jauhiainen, Matti et al.

Part of Arteriosclerosis, Thrombosis and Vascular Biology, p. 1614-1620, 2010

• DOI for Niemann-Pick C1 modulates hepatic triglyceride metabolism and its genetic variation contributes to serum triglyceride levels

Genetic variants and disease-associated factors contribute to enhanced interferon regulatory factor 5 expression in blood cells of patients with systemic lupus erythematosus

Feng, Di; Stone, Rivka C.; Eloranta, Maija-Leena; Sangster-Guity, Niquiche et al.

Part of Arthritis and Rheumatism, p. 562-573, 2010

• DOI for Genetic variants and disease-associated factors contribute to enhanced interferon regulatory factor 5 expression in blood cells of patients with systemic lupus erythematosus

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

Heid, Iris M; Jackson, Anne U; Randall, Joshua C; Winkler, Thomas W et al.

Part of Nature Genetics, p. 949-960, 2010

• DOI for Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

Dupuis, Josée; Langenberg, Claudia; Prokopenko, Inga; Saxena, Richa et al.

Part of Nature Genetics, p. 105-116, 2010

• DOI for New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

Genetic risk factors in lupus nephritis and IgA nephropathy: no support of an overlap

Vuong, Mai Tuyet; Gunnarsson, Iva; Lundberg, Sigrid; Svenungsson, Elisabet et al.

Part of PLOS ONE, 2010

• DOI for Genetic risk factors in lupus nephritis and IgA nephropathy: no support of an overlap

A STAT4 risk allele is associated with ischaemic cerebrovascular events and anti-phospholipid antibodies in systemic lupus erythematosus

Svenungsson, Elisabet; Gustafsson, Johanna; Leonard, Dag; Sandling, Johanna et al.

Part of Annals of the Rheumatic Diseases, p. 834-840, 2010

• DOI for A STAT4 risk allele is associated with ischaemic cerebrovascular events and anti-phospholipid antibodies in systemic lupus erythematosus

Variation in STAT4 is associated with systemic lupus erythematosus in a Finnish family cohort

Hellquist, Anna; Sandling, Johanna K.; Zucchelli, Marco; Koskenmies, Sari et al.

Part of Annals of the Rheumatic Diseases, p. 883-886, 2010

• DOI for Variation in STAT4 is associated with systemic lupus erythematosus in a Finnish family cohort

SNPs in genes coding for ROS metabolism and signalling in association with docetaxel clearance

Edvardsen, H.; Brunsvig, P F.; Solvang, H.; Tsalenko, A. et al.

Part of The Pharmacogenomics Journal, p. 513-523, 2010

• DOI for SNPs in genes coding for ROS metabolism and signalling in association with docetaxel clearance

Association of genetic risk variants with expression of proximal genes identifies novel susceptibility genes for cardiovascular disease

Folkersen, Lasse; van't Hooft, Ferdinand; Chernogubova, Ekaterina; Agardh, Hanna E. et al.

Part of Circulation, p. 365-373, 2010

• DOI for Association of genetic risk variants with expression of proximal genes identifies novel susceptibility genes for cardiovascular disease

Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge

Saxena, Richa; Hivert, Marie-France; Langenberg, Claudia; Tanaka, Toshiko et al.

Part of Nature Genetics, p. 142-148, 2010

• DOI for Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge

Genetic analysis of an F2 intercross between two chicken lines divergently selected for body-weight

Wahlberg, Per; Carlborg, Örjan; Foglio, Mario; Tordoir, Xavier et al.

Part of BMC Genomics, p. 248, 2009

• DOI for Genetic analysis of an F2 intercross between two chicken lines divergently selected for body-weight

Geographical structure and differential natural selection among North European populations

McEvoy, Brian P.; Montgomery, W; McRae, F; Ripatti, Samuli et al.

Part of Genome Research, p. 804-814, 2009

• DOI for Geographical structure and differential natural selection among North European populations

Allele-specific expression and gene methylation in the control of CYP1A2 mRNA level in human livers

Ghotbi, Roza; Gomez, Alvin; Milani, Lili; Tybring, Gunnel et al.

Part of The Pharmacogenomics Journal, p. 208-217, 2009

• DOI for Allele-specific expression and gene methylation in the control of CYP1A2 mRNA level in human livers

Allele-specific gene expression patterns in primary leukemic cells reveal regulation of gene expression by CpG site methylation

Milani, Lili; Lundmark, Anders; Nordlund, Jessica; Kiialainen, Anna et al.

Part of Genome Research, p. 1-11, 2009

• DOI for Allele-specific gene expression patterns in primary leukemic cells reveal regulation of gene expression by CpG site methylation

Genetic analysis of Alzheimer's disease in the Uppsala Longitudinal Study of Adult Men

Giedraitis, Vilmantas; Kilander, Lena; Degerman-Gunnarsson, Malin; Sundelöf, Johan et al.

Part of Dementia and Geriatric Cognitive Disorders, p. 59-68, 2009

• DOI for Genetic analysis of Alzheimer's disease in the Uppsala Longitudinal Study of Adult Men

Additive effects of the major risk alleles of IRF5 and STAT4 in primary Sjögren's syndrome

Nordmark, Gunnel; Kristjansdottir, Gudlaug; Theander, E.; Eriksson, P. et al.

Part of Genes and Immunity, p. 68-76, 2009

• DOI for Additive effects of the major risk alleles of IRF5 and STAT4 in primary Sjögren's syndrome

Genetic variations in sex steroid-related genes as predictors of serum estrogen levels in men

Eriksson, Anna L.; Lorentzon, Mattias; Vandenput, Liesbeth; Labrie, Fernand et al.

Part of Journal of Clinical Endocrinology and Metabolism, p. 1033-1041, 2009

• DOI for Genetic variations in sex steroid-related genes as predictors of serum estrogen levels in men

A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus

Gateva, Vesela; Sandling, Johanna K.; Hom, Geoff; Taylor, Kimberly E. et al.

Part of Nature Genetics, p. 1228-1233, 2009

• DOI for A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus

Genome-wide association study identifies eight loci associated with blood pressure

Newton-Cheh, Christopher; Johnson, Toby; Gateva, Vesela; Tobin, D et al.

Part of Nature Genetics, p. 666-676, 2009

• DOI for Genome-wide association study identifies eight loci associated with blood pressure

Estrogen receptor alpha gene polymorphism and endometrial cancer risk: a case-control study

Wedrén, Sara; Lovmar, Lovisa; Humphreys, Keith; Magnusson, Cecilia et al.

Part of BMC Cancer, p. 322, 2008

• DOI for Estrogen receptor alpha gene polymorphism and endometrial cancer risk: a case-control study

The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population

Christensen, Lise Lotte; Madsen, Bo E.; Wikman, Friedrik P.; Wiuf, Carsten et al.

Part of BMC Medical Genetics, p. 52, 2008

• DOI for The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population

Interferon Regulatory Factor 5 (IRF5) Gene Variants are Associated with Multiple Sclerosis in Three Distinct Populations

Kristjansdottir, Gudlaug; Sandling, Johanna K; Bonetti, Alessandro; Roos, Izaura M et al.

Part of Journal of Medical Genetics, p. 362-369, 2008

• DOI for Interferon Regulatory Factor 5 (IRF5) Gene Variants are Associated with Multiple Sclerosis in Three Distinct Populations

High-resolution, high-throughput SNP mapping in Drosophila melanogaster

Chen, Doris; Ahlford, Annika; Schnorrer, Frank; Kalchhauser, Irene et al.

Part of Nature Methods, p. 323-329, 2008

• DOI for High-resolution, high-throughput SNP mapping in Drosophila melanogaster

Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX

Hom, Geoffrey; Graham, Robert R; Modrek, Barmak; Taylor, Kimberly E et al.

Part of New England Journal of Medicine, p. 900-909, 2008

• DOI for Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX

Comprehensive evaluation of the genetic variants of interferon regulatory factor 5 (IRF5) reveals a novel 5 bp length polymorphism as strong risk factor for systemic lupus erythematosus

Sigurdsson, Snaevar; Göring, Harald H. H.; Kristjansdottir, Gudlaug; Milani, Lili et al.

Part of Human Molecular Genetics, p. 872-881, 2008

• DOI for Comprehensive evaluation of the genetic variants of interferon regulatory factor 5 (IRF5) reveals a novel 5 bp length polymorphism as strong risk factor for systemic lupus erythematosus

Evaluation of HapMap data in six populations of European descent

Lundmark, Per E; Liljedahl, Ulrika; Boomsma, Dorret I; Mannila, Heikki et al.

Part of European Journal of Human Genetics, p. 1142-1150, 2008

• DOI for Evaluation of HapMap data in six populations of European descent

Polymorphisms in the estrogen receptor alpha gene and endothelial function in resistance and conduit arteries in the elderly

Ingelsson, Erik; Syvänen, Ann-Christine; Lind, Lars

Part of Atherosclerosis, p. 162-171, 2008

• DOI for Polymorphisms in the estrogen receptor alpha gene and endothelial function in resistance and conduit arteries in the elderly

The relationship between the plasma concentration of irbesartan and the antihypertensive response is disclosed by an angiotensin II type 1 receptor polymorphism: results from the Swedish Irbesartan Left Ventricular Hypertrophy Investigation vs. Atenolol (SILVHIA) Trial

Kurland, Lisa; Hallberg, Pär; Melhus, Håkan; Liljedahl, Ulrika et al.

Part of American Journal of Hypertension, p. 836-839, 2008

• DOI for The relationship between the plasma concentration of irbesartan and the antihypertensive response is disclosed by an angiotensin II type 1 receptor polymorphism: results from the Swedish Irbesartan Left Ventricular Hypertrophy Investigation vs. Atenolol (SILVHIA) Trial

Association of the estrogen receptor 1 (ESR1) gene with body height in adult males from two Swedish population cohorts

Dahlgren, Andreas; Lundmark, Per; Axelsson, Tomas; Lind, Lars et al.

Part of PLOS ONE, 2008

• DOI for Association of the estrogen receptor 1 (ESR1) gene with body height in adult males from two Swedish population cohorts

USF1 gene variants contribute to metabolic traits in men in a longitudinal 32-year follow-up study

Auro, K.; Kristiansson, K.; Zethelius, Björn; Berne, Christian et al.

Part of Diabetologia, p. 464-472, 2008

• DOI for USF1 gene variants contribute to metabolic traits in men in a longitudinal 32-year follow-up study

Positional cloning by fast-track SNP-mapping in Drosophila melanogaster

Schnorrer, Frank; Ahlford, Annika; Chen, Doris; Milani, Lili et al.

Part of Nature Protocols, p. 1751-1765, 2008

• DOI for Positional cloning by fast-track SNP-mapping in Drosophila melanogaster

Endothelium-dependent vasodilation in conduit and resistance vessels in relation to the endothelial nitric oxide synthase gene

Ingelsson, Erik; Syvänen, Ann-Christine; Lind, Lars

Part of Journal of Human Hypertension, p. 569-578, 2008

• DOI for Endothelium-dependent vasodilation in conduit and resistance vessels in relation to the endothelial nitric oxide synthase gene

A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5

Sigurdsson, Snaevar; Nordmark, Gunnel; Garnier, Sophie; Grundberg, Elin et al.

Part of Human Molecular Genetics, p. 2868-2876, 2008

• DOI for A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5

Expression of BCR-ABL1 oncogene relative to ABL1 gene changes overtime in chronic myeloid leukemia

Gupta, Manu; Milani, Lili; Hermansson, Monica; Simonsson, Bengt et al.

Part of Biochemical and Biophysical Research Communications - BBRC, p. 848-851, 2008

• DOI for Expression of BCR-ABL1 oncogene relative to ABL1 gene changes overtime in chronic myeloid leukemia

Investigation of the fine structure of European populations with applications to disease association studies

Heath, Simon C.; Gut, Ivo G.; Brennan, Paul; McKay, James D. et al.

Part of European Journal of Human Genetics, p. 1413-1429, 2008

• DOI for Investigation of the fine structure of European populations with applications to disease association studies

A microarray system for Y chromosomal and mitochondrial single nucleotide polymorphism analysis in chimpanzee populations

Andres, Olga; Rönn, Ann-Charlotte; Bonhomme, Maxime; Keller-Mann, Thomas et al.

Part of Molecular Ecology Notes, p. 529-539, 2008

• DOI for A microarray system for Y chromosomal and mitochondrial single nucleotide polymorphism analysis in chimpanzee populations

Variants of the interferon regulatory factor 5 gene regulate expression of IRF5 mRNA in atherosclerotic tissue but are not associated with myocardial infarction

Mälarstig, Anders; Sigurdsson, Snaevar; Eriksson, Per; Paulsson-Berne, Gabrielle et al.

Part of Arteriosclerosis, Thrombosis and Vascular Biology, p. 975-982, 2008

• DOI for Variants of the interferon regulatory factor 5 gene regulate expression of IRF5 mRNA in atherosclerotic tissue but are not associated with myocardial infarction

Genome-wide analysis identifies 16q deletion associated with survival, molecular subtypes, mRNA expression, and germline haplotypes in breast cancer patients

Nordgard, Silje H; Johansen, Fredrik E; Alnæs, Grethe I G; Bucher, Elmar et al.

Part of Genes, Chromosomes and Cancer, p. 680-696, 2008

• DOI for Genome-wide analysis identifies 16q deletion associated with survival, molecular subtypes, mRNA expression, and germline haplotypes in breast cancer patients

Screening for copy-number alterations and loss of heterozygosity in chronic lymphocytic leukemia-A comparative study of four differently designed, high resolution microarray platforms

Gunnarsson, Rebeqa; Staaf, Johan; Jansson, Mattias; Ottesen, Anne Marie et al.

Part of Genes, Chromosomes and Cancer, p. 697-711, 2008

• DOI for Screening for copy-number alterations and loss of heterozygosity in chronic lymphocytic leukemia-A comparative study of four differently designed, high resolution microarray platforms

Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells

Milani, Lili; Gupta, Manu; Andersen, M.; Dhar, Sumeer et al.

Part of Nucleic Acids Research, 2007

• DOI for Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells

Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus

Graham, R. Robert; Kyogoku, Chieko; Sigurdsson, Snaevar; Vlasova, Irina A. et al.

Part of Proceedings of the National Academy of Sciences of the United States of America, p. 6758-6763, 2007

• DOI for Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus

An insertion-deletion polymorphism in the Interferon Regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases

Dideberg, Vinciane; Kristjansdottir, Gudlaug; Milani, Lili; Libioulle, C. et al.

Part of Human Molecular Genetics, p. 3008-3016, 2007

• DOI for An insertion-deletion polymorphism in the Interferon Regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases

Variants of the TCF7L2 gene are associated with beta cell dysfunction and confer an increased risk of type 2 diabetes mellitus in the ULSAM cohort of Swedish elderly men

Dahlgren, Andreas; Zethelius, Björn; Jensevik, Karin; Syvänen, Ann-Christine et al.

Part of Diabetologia, p. 1852-1857, 2007

• DOI for Variants of the TCF7L2 gene are associated with beta cell dysfunction and confer an increased risk of type 2 diabetes mellitus in the ULSAM cohort of Swedish elderly men

Association of a Haplotype in the Promoter Region of the Interferon Regulatory Factor 5 Gene With Rheumatoid Arthritis

Sigurdsson, Snaevar; Padyukov, Leonid; Kurreeman, Fina A.S.; Liljedahl, Ulrika et al.

Part of Arthritis and Rheumatism, p. 2202-2210, 2007

• DOI for Association of a Haplotype in the Promoter Region of the Interferon Regulatory Factor 5 Gene With Rheumatoid Arthritis

Polymorphisms in the SCD1 gene: associations with body fat distribution and insulin sensitivity

Warensjö, Eva; Ingelsson, Erik; Lundmark, Per; Lannfelt, Lars et al.

Part of Obesity, p. 1732-1740, 2007

• DOI for Polymorphisms in the SCD1 gene: associations with body fat distribution and insulin sensitivity

Apolipoprotein E epsilon 4 genotype is independently associated with increased intima-media thickness in a recessive pattern

Wohlin, Martin; Sundström, Johan; Lannfelt, Lars; Axelsson, Tomas et al.

Part of Lipids, p. 451-456, 2007

• DOI for Apolipoprotein E epsilon 4 genotype is independently associated with increased intima-media thickness in a recessive pattern

A quality assessment survey of SNP genotyping laboratories

Lahermo, P; Liljedahl, Ulrika; Alnaes, Grethe; Axelsson, Tomas et al.

Part of Human Mutation, p. 711-714, 2006

• DOI for A quality assessment survey of SNP genotyping laboratories

Genetic variation in putative regulatory loci controlling gene expression in breast cancer

Kristensen, Vessela N; Edvardsen, Hege; Tsalenko, Anya; Nordgard, Silje H et al.

Part of Proceedings of the National Academy of Sciences of the United States of America, p. 7735-7740, 2006

• DOI for Genetic variation in putative regulatory loci controlling gene expression in breast cancer

Multiple displacement amplification for generating an unlimited source of DNA for genotyping in nonhuman primate species

Rönn, Ann-Charlotte; Andrés, Olga; Bruford, Michael W.; Crouau-Roy, Brigitte et al.

Part of International journal of primatology, p. 1145-1169, 2006

• DOI for Multiple displacement amplification for generating an unlimited source of DNA for genotyping in nonhuman primate species

A microarray system for genotyping 150 single nucleotide polymorphisms in the coding region of human mitochondrial DNA

Sigurdsson, Snaevar; Hedman, Minttu; Sistonen, Pertti; Sajantila, Antti et al.

Part of Genomics, p. 534-542, 2006

• DOI for A microarray system for genotyping 150 single nucleotide polymorphisms in the coding region of human mitochondrial DNA

Experimental validation of data mined single nucleotide polymorphisms from several databases and consecutive dbSNP builds

Edvardsen, Hege; Alaes, Grethe Irene Grenaker; Tsalenko, Anya; Mulcahy, Tanya et al.

Part of Pharmacogenetics & Genomics, p. 207-217, 2006

• DOI for Experimental validation of data mined single nucleotide polymorphisms from several databases and consecutive dbSNP builds

Multiple displacement amplification to create a long-lasting source of DNA for genetic studies.

Lovmar, Lovisa; Syvänen, Ann-Christine

Part of Hum Mutat, p. 603-14, 2006

Silhouette scores for assessment of SNP genotype clusters

Lovmar, Lovisa; Ahlford, Annika; Jonsson, Mats; Syvänen, Ann-Christine

Part of BMC Genomics, 2005

• DOI for Silhouette scores for assessment of SNP genotype clusters
• Download full text (pdf) of Silhouette scores for assessment of SNP genotype clusters

Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene.

Weedon, Michael N; Frayling, Timothy M; Shields, Beverley; Knight, Beatrice et al.

Part of Diabetes, p. 576-81, 2005

Polymorphisms in the Tyrosine Kinase 2 and Interferon Regulatory Factor 5 Genes Are Associated with Systemic Lupus Erythematosus

Sigurdsson, Snaevar; Nordmark, Gunnel; Göring, Harald; Lindroos, Katarina et al.

Part of American Journal of Human Genetics, p. 528-537, 2005

• DOI for Polymorphisms in the Tyrosine Kinase 2 and Interferon Regulatory Factor 5 Genes Are Associated with Systemic Lupus Erythematosus

Toward genome-wide SNP genotyping

Syvänen, Ann-Christine

Part of Nature Genetics, 2005

• DOI for Toward genome-wide SNP genotyping

Genetic variations in the tissue factor gene are associated with clinical outcome in acute coronary syndrome and expression levels in human monocytes

Mälarstig, Anders; Tenno, Taavo; Johnston, Nina; Lagerqvist, Bo et al.

Part of Arteriosclerosis, Thrombosis and Vascular Biology, p. 2667-2672, 2005

• DOI for Genetic variations in the tissue factor gene are associated with clinical outcome in acute coronary syndrome and expression levels in human monocytes

Detecting imbalanced expression of SNP alleles by minisequencing on microarrays

Liljedahl, Ulrika; Fredriksson, Mona; Dahlgren, Andreas; Syvänen, Ann-Christine

Part of BMC Biotechnology, p. 1-10, 2004

• DOI for Detecting imbalanced expression of SNP alleles by minisequencing on microarrays
• Download full text (pdf) of Detecting imbalanced expression of SNP alleles by minisequencing on microarrays

Gender-specific association between preproendothelin-1 genotype and reduction of systolic blood pressure during antihypertensive treatment: results from the Swedish Irbesartan Left Ventricular Hypertrophy Investigation versus Atenolol (SILVHIA)

Hallberg, Pär; Karlsson, J.; Lind, Lars; Michaëlsson, Karl et al.

Part of Clinical Cardiology, p. 287-290, 2004

• DOI for Gender-specific association between preproendothelin-1 genotype and reduction of systolic blood pressure during antihypertensive treatment: results from the Swedish Irbesartan Left Ventricular Hypertrophy Investigation versus Atenolol (SILVHIA)

Oestrogen receptor alpha gene haplotype and postmenopausal breast cancer risk: a case control study

Wedrén, Sara; Lovmar, Lovisa; Humphreys, Keith; Magnusson, Cecilia et al.

Part of Breast Cancer Research, 2004

• DOI for Oestrogen receptor alpha gene haplotype and postmenopausal breast cancer risk: a case control study

Assessing hematopoietic chimerism after allogeneic stem cell transplantation by multiplexed SNP genotyping using microarrays and quantitative analysis of SNP alleles

Fredriksson, Mona; Barbany, Gisela; Liljedahl, Ulrika; Hermanson, Monika et al.

Part of Leukemia, p. 255-266, 2004

• DOI for Assessing hematopoietic chimerism after allogeneic stem cell transplantation by multiplexed SNP genotyping using microarrays and quantitative analysis of SNP alleles

Angiotensinogen gene polymorphisms: relationship to blood pressure response to antihypertensive treatment. Results from the Swedish Irbesartan Left Ventricular Hypertrophy Investigation vs Atenolol (SILVHIA) trial

Kurland, Lisa; Liljedahl, Ulrika; Karlsson, Julia; Kahan, Thomas et al.

Part of American Journal of Hypertension, p. 8-13, 2004

• DOI for Angiotensinogen gene polymorphisms: relationship to blood pressure response to antihypertensive treatment. Results from the Swedish Irbesartan Left Ventricular Hypertrophy Investigation vs Atenolol (SILVHIA) trial

Assessing hematopoietic chimerism after stem cell transplantation by multiplexed SNP genotyping using microarrays and quantitative analysis of SNP alleles

Fredriksson, Mona; Barbany, Gisela; Liljedahl, Ulrika; Hermanson, Monica et al.

Part of Leukemia, p. 255-266, 2004

• DOI for Assessing hematopoietic chimerism after stem cell transplantation by multiplexed SNP genotyping using microarrays and quantitative analysis of SNP alleles

Approaches for analyzing human mutations and nucleotide sequence variation: a report from the Seventh International Mutation Detection meeting, 2003

Syvänen, Ann-Christine; Taylor, Graham R

Part of Human Mutation, p. 401-405, 2004

• DOI for Approaches for analyzing human mutations and nucleotide sequence variation: a report from the Seventh International Mutation Detection meeting, 2003

Single nucleotide polymorphisms in the apolipoprotein B and low density lipoprotein receptor genes affect response to antihypertensive treatment

Liljedahl, Ulrika; Lind, Lars; Kurland, Lisa; Berglund, Lars et al.

Part of BMC Cardiovascular Disorders, p. 16, 2004

• DOI for Single nucleotide polymorphisms in the apolipoprotein B and low density lipoprotein receptor genes affect response to antihypertensive treatment

Single nucleotide polymorphisms predict the change in left ventricular mass in response to antihypertensive treatment

Liljedahl, Ulrika; Kahan, Thomas; Malmqvist, Karin; Melhus, Håkan et al.

Part of Journal of Hypertension, p. 2321-8, 2004

Adipocyte-derived leucine aminopeptidase genotype and response to antihypertensive therapy

Hallberg, Pär; Lind, Lars; Michaëlsson, Karl; Kurland, Lisa et al.

Part of BMC Cardiovascular Disorders, p. 11, 2003

• DOI for Adipocyte-derived leucine aminopeptidase genotype and response to antihypertensive therapy

Genotyping SNPs by minisequencing primer extension using oligonucleotide microarrays

Lindroos, Katarina; Liljedahl, Ulrika; Syvänen, Ann-Christine

Part of Methods in Molecular Biology, p. 149-165, 2003

• DOI for Genotyping SNPs by minisequencing primer extension using oligonucleotide microarrays

Microarrays for genotyping human group A rotavirus by multiplex capture and type-specific primer extension

Lovmar, Lovisa; Fock, Caroline; Espinoza, Felix; Bucardo, Filemon et al.

Part of Journal of Clinical Microbiology, p. 5153-5158, 2003

• DOI for Microarrays for genotyping human group A rotavirus by multiplex capture and type-specific primer extension

Farmakogenetik: genvägen till skräddarsydd antihypertensiv terapi

Kurland, Lisa; Lind, Lars; Lithell, Hans; Syvänen, Ann-Christine et al.

Part of Läkartidningen, p. 600-603, 2003

A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response

Liljedahl, Ulrika; Karlsson, Julia; Melhus, Håkan; Kurland, Lisa et al.

Part of Pharmacogenetics, p. 7-17, 2003

Quantitative evaluation by minisequencing and microarrays reveals accurate multiplexed SNP genotyping of whole genome amplified DNA

Lovmar, Lovisa; Fredriksson, Mona; Liljedahl, Ulrika; Sigurdsson, Snaevar et al.

Part of Nucleic Acids Research, 2003

• DOI for Quantitative evaluation by minisequencing and microarrays reveals accurate multiplexed SNP genotyping of whole genome amplified DNA

Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease

Blom, Titta S; Linder, Matts D; Snow, Karen; Pihko, Helena et al.

Part of Human Molecular Genetics, p. 257-272, 2003

• DOI for Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease

Sex chromosome evolution and speciation in Ficedula flycatchers

Sætre, Glenn-Peter; Borge, Thomas; Lindroos, Katarina; Haavie, Jon et al.

Part of Proceedings of the Royal Society of London. Biological Sciences, p. 53-59, 2003

• DOI for Sex chromosome evolution and speciation in Ficedula flycatchers

Sex chromosome evolution and speciation in Ficedula flycatchers

Saetre, Glenn-Peter; Borge, Thomas; Lindroos, Katarina; Haavie, Jon et al.

Part of Proceedings of the Royal Society of London: Biological Sciences, p. 53-59, 2003

Quantitative evaluation by minisequencing and microarrays reveals accurate multiplexed SNP genotyping of whole genome amplified DNA.

Lovmar, Lovisa; Fredriksson, Mona; Liljedahl, Ulrika; Sigurdsson, Snaevar et al.

Part of Nucleic Acids Res, 2003

Microarrays for genotyping human group a rotavirus by multiplex capture and

Lovmar, Lovisa; Fock, Caroline; Espinoza, Felix; Bucardo, Filemon et al.

Part of J Clin Microbiol, p. 5153-8, 2003

Multiplex SNP genotyping in pooled DNA samples by a four-colour microarray system

Lindroos, Katarina; Sigurdsson, Snaevar; Johansson, Karin; Rönnblom, Lars et al.

Part of Nucleic Acids Research, 2002

• DOI for Multiplex SNP genotyping in pooled DNA samples by a four-colour microarray system

DNA sandwiches with silver and gold

Syvänen, Ann-Christine; Söderlund, Hans

Part of Nature Biotechnology, p. 349-350, 2002

• DOI for DNA sandwiches with silver and gold

Unexpectedly High Allelic Diversity at the KIT Locus Causing DominantWhite Color in the Domestic Pig

Pielberg, Gerli; Olsson, Christian; Syvänen, Ann-Christine; Andersson, L

Part of Genetics, p. 305-311, 2002

Y-chromosomal SNPs in Finno-Ugric-speaking populations analyzed by minisequencing on microarrays

Raitio, Mirja; Lindroos, Katarina; Laukkanen, Minna; Pastinen, Tomi et al.

Part of Genome Research, p. 471-482, 2001

• DOI for Y-chromosomal SNPs in Finno-Ugric-speaking populations analyzed by minisequencing on microarrays

Minisequencing on oligonucleotide microarrays: comparison of immobilisation chemistries

Lindroos, Katarina; Liljedahl, Ulrika; Raitio, Mirja; Syvänen, Ann-Christine

Part of Nucleic Acids Research, 2001

Minisequencing on oligonucleotide microarrays: comparison of immobilisation chemistries

Lindroos, Katarina; Liljedahl, Ulrika; Raitio, Mirja; Syvänen, Ann-Christine

Part of Nucleic Acids Research, 2001

Homogeneous scoring of single nucleotide polymorphisms: The 5’-nuclease ”TaqMan” assay versus Molecular beacon probes

Täpp, Ida; Malmberg, Lovisa; Rennel, Emma; Majstin, Wik et al.

Part of BioTechniques, p. 732-738, 2000

Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples

Olsson, Charlotta; Waldenström, Erik; Westermark, Kerstin; Landegren, Ulf et al.

Part of European Journal of Human Genetics, p. 933-938, 2000

A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays

Pastinen, Tomi; Raitio, Mirja; Lindroos, Katarina; Tainola, Päivi et al.

Part of Genome Research, p. 1031-1042, 2000

From gels to chips: "Minisequencing" primer extension for analysis of point mutations and single nucleotide polymorphisms

Syvänen, Ann-Christine

Part of Human Mutation, p. 1-10, 1999

• DOI for From gels to chips: "Minisequencing" primer extension for analysis of point mutations and single nucleotide polymorphisms

A colorimetric minisequencing assay for the mutation in codon 506 of the coagulation factor V gene

Sitbon, G; Hurtig, M; Palotie, A; Lönngren, J et al.

Part of Thrombosis and Haemostasis, p. 701-703, 1997

DNA diagnosis and identification of carriers of infantile and juvenile neuronal ceroid lipofuscinoses

Syvänen, Ann-Christine; Järvelä, I; Paunio, T; Vesa, J

Part of Neuropediatrics, p. 63-66, 1997

• DOI for DNA diagnosis and identification of carriers of infantile and juvenile neuronal ceroid lipofuscinoses

Tissue distribution and levels of gelsolin mRNA in normal individuals and patients with gelsolin-related amyloidosis.

Paunio, T; Kangas, H; Kiuru, S; Palo, J et al.

Part of FEBS Letters, p. 49-55, 1997

• DOI for Tissue distribution and levels of gelsolin mRNA in normal individuals and patients with gelsolin-related amyloidosis.

Genetic polymorphism of catechol-O-methyltransferase (COMT): correlation of genotype with individual variation of S-COMT activity and comparison of the allele frequencies in the normal population and parkinsonian patients in Finland

Syvänen, Ann-Christine; Tilgmann, C; Rinne, J; Ulmanen, I

Part of Pharmacogenetics, p. 65-71, 1997

Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays

Pastinen, T; Kurg, A; Metspalu, A; Peltonen, L et al.

Part of Genome Research, p. 606-614, 1997

• DOI for Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays

Rapid diagnostic test for the major mutation underlying Batten disease

Järvelä, I; Mitchison, H M; Munroe, P B; O'Rawe, A M et al.

Part of Journal of Medical Genetics, p. 1041-1042, 1996

Analysis of nucleotide sequence variations by solid-phase minisequencing

Suomalainen, A; Syvänen, Ann-Christine

Part of Methods in Molecular Biology, p. 73-79, 1996

• DOI for Analysis of nucleotide sequence variations by solid-phase minisequencing

Affinity capture and solid-phase sequencing of biotinylated PCR products

Suomatainen, A; Syvänen, Ann-Christine

Part of Methods in Molecular Biology, p. 67-72, 1996

• DOI for Affinity capture and solid-phase sequencing of biotinylated PCR products

Multiplex, fluorescent, solid-phase minisequencing for efficient screening of DNA sequence variation

Pastinen, T; Partanen, J; Syvänen, Ann-Christine

Part of Clinical Chemistry, p. 1391-1397, 1996

Preimplantation diagnosis by whole-genome amplification, PCR amplification, and solid-phase minisequencing of blastomere DNA

Paunio, T; Reima, I; Syvänen, Ann-Christine

Part of Clinical Chemistry, p. 1382-1390, 1996

DNA-based carrier screening in primary healthcare: screening for aspartylglucosaminuria mutations in maternity health offices

Hietala, M; Aula, P; Syvänen, Ann-Christine; Isoniemi, A et al.

Part of Clinical Chemistry, p. 1398-1404, 1996

An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts

Karttunen, L; Lönnqvist, L; Godfrey, M; Peltonen, L et al.

Part of Genome Research, p. 392-403, 1996

• DOI for An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts

A chimeric disposition of the elongation factor genes in Rickettsia prowazekii

Syvänen, Ann-Christine; Amiri, Haleh; Jamal, Asfar; Andersson, Siv G. E. et al.

Part of Journal of Bacteriology, p. 6192-6199, 1996

Solid-phase minisequencing confirmed by FISH analysis in determination of gene copy number

Laan, M; Grön-Virta, K; Salo, A; Aula, P et al.

Part of Human Genetics, p. 275-280, 1995

• DOI for Solid-phase minisequencing confirmed by FISH analysis in determination of gene copy number

Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing

Juvonen, V; Huoponen, K; Syvänen, Ann-Christine; Nikoskelainen, E et al.

Part of Human Genetics, p. 16-20, 1994

• DOI for Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing

Towards automatic detection of point mutations: use of scintillating microplates in solid-phase minisequencing

Ihalainen, J; Siitari, H; Laine, S; Syvänen, Ann-Christine et al.

Part of BioTechniques, p. 938-943, 1994

Detection of point mutations by solid-phase methods

Syvänen, Ann-Christine; Landegren, Ulf

Part of Human Mutation, p. 172-179, 1994

• DOI for Detection of point mutations by solid-phase methods

A microsatellite polymorphism in the von Willebrand factor gene: comparison of allele frequencies in different population samples and evaluation for forensic medicine

Sajantila, A; Pacek, P; Lukka, M; Syvänen, Ann-Christine et al.

Part of Forensic Science International, p. 91-102, 1994

Detection of point mutations in human genes by the solid-phase minisequencing method

Syvänen, Ann-Christine

Part of Clinica Chimica Acta, p. 225-236, 1994

• DOI for Detection of point mutations in human genes by the solid-phase minisequencing method

A novel method to quantitate methylation of specific genomic regions

Heiskanen, M; Syvänen, Ann-Christine; Siitari, H; Laine, S et al.

Part of PCR methods and applications, p. 26-30, 1994

Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription

Suomalainen, A; Majander, A; Pihko, H; Peltonen, L et al.

Part of Human Molecular Genetics, p. 525-534, 1993

• DOI for Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription

Identification of individuals by analysis of biallelic DNA markers, using PCR and solid-phase minisequencing

Syvänen, Ann-Christine; Sajantila, A; Lukka, M

Part of American Journal of Human Genetics, p. 46-59, 1993

Aspartylglucosaminuria (AGU): protein and gene structure of normal and mutated aspartylglucosaminidase

Halila, R; Ikonen, E; Tollersrud, O; Syvänen, Ann-Christine et al.

Part of Biochemical Medicine and Metabolic Biology, p. 1-8, 1993

• DOI for Aspartylglucosaminuria (AGU): protein and gene structure of normal and mutated aspartylglucosaminidase

Quantification of mitochondrial DNA carrying the tRNA(8344Lys) point mutation in myoclonus epilepsy and ragged-red-fiber disease

Suomalainen, A; Kollmann, P; Octave, J N; Söderlund, H et al.

Part of European Journal of Human Genetics, p. 88-95, 1993

Prospects of carrier screening of aspartylglucosaminuria in Finland

Hietala, M; Grön, K; Syvänen, Ann-Christine; Peltonen, L et al.

Part of European Journal of Human Genetics, p. 296-300, 1993

Quantification of polymerase chain reaction products by affinity-based collection

Syvänen, Ann-Christine; Söderlund, H

Part of Methods in Enzymology, p. 474-490, 1993

• DOI for Quantification of polymerase chain reaction products by affinity-based collection

Forensic DNA typing by the solid-phase minisequencing method

Syvänen, Ann-Christine; Sajantila, A; Lukka, M

Part of EXS, p. 275-282, 1993

Dissection of the molecular pathology of aspartylglucosaminuria provides the basis for DNA diagnostics and future therapeutic interventions

Ikonen, E; Syvänen, Ann-Christine; Peltonen, L

Part of Scandinavian journal of clinical and laboratory investigation. Supplementum, p. 19-27, 1993

Development of molecular genetic methods for monitoring myeloid malignancies

Palotie, A; Syvänen, Ann-Christine

Part of Scandinavian journal of clinical & laboratory investigation. Supplementum, p. 29-38, 1993

Determination of allele frequencies at loci with length polymorphism by quantitative analysis of DNA amplified from pooled samples

Pacek, P; Sajantila, A; Syvänen, Ann-Christine

Part of PCR methods and applications, p. 313-317, 1993

• DOI for Determination of allele frequencies at loci with length polymorphism by quantitative analysis of DNA amplified from pooled samples

Solid-phase minisequencing test reveals Asp₁₈₇ → Asn (G₆₅₄ → A) mutation of gelsolin in all affected individuals with finnish type of familial amyloidosis

Paunio, T; Kiuru, S; Hongell, V; Mustonen, E et al.

Part of Genomics, p. 237-239, 1992

• DOI for Solid-phase minisequencing test reveals Asp₁₈₇ → Asn (G₆₅₄ → A) mutation of gelsolin in all affected individuals with finnish type of familial amyloidosis

Screening for defined cystic fibrosis mutations by solid-phase minisequencing

Jalanko, A; Kere, J; Savilahti, E; Schwartz, M et al.

Part of Clinical Chemistry, p. 39-43, 1992

N-ras gene mutations in acute myeloid leukemia: accurate detection by solid-phase minisequencing

Syvänen, Ann-Christine; Söderlund, H; Laaksonen, E; Bengtström, M et al.

Part of International Journal of Cancer, p. 713-718, 1992

Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland

Syvänen, Ann-Christine; Ikonen, E; Manninen, T; Bengtström, M et al.

Part of Genomics, p. 590-595, 1992

• DOI for Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland

The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland

Koivisto, U M; Turtola, H; Aalto-Setälä, K; Top, B et al.

Part of Journal of Clinical Investigation, p. 219-228, 1992

• DOI for The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland

From one to millions: the polymerase chain reaction in diagnosis

Syvänen, Ann-Christine

Part of Annals of Medicine, p. 181-182, 1992

Structural analysis of the regulatory elements of the type-II procollagen gene: Conservation of promoter and first intron sequences between human and mouse

Vikkula, M; Metsäranta, M; Syvänen, Ann-Christine; Ala-Kokko, L et al.

Part of Biochemical Journal, p. 287-294, 1992

Quantitative determination of rare mRNA species by PCR and solid-phase minisequencing

Ikonen, E; Manninen, T; Peltonen, L; Syvänen, Ann-Christine

Part of PCR methods and applications, p. 234-240, 1992

• DOI for Quantitative determination of rare mRNA species by PCR and solid-phase minisequencing

Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease

Ikonen, E; Baumann, M; Grön, K; Syvänen, Ann-Christine et al.

Part of EMBO Journal, p. 51-58, 1991

Spectrum of mutations in aspartylglucosaminuria

Ikonen, E; Aula, P; Grön, K; Tollersrud, O et al.

Part of Proceedings of the National Academy of Sciences of the United States of America, p. 11222-11226, 1991

Genetic analysis of the polymorphism of the human apolipoprotein E using automated solid-phase sequencing

Syvänen, Ann-Christine; Hultman, T; Aalto-Setälä, K; Söderlund, H et al.

Part of Genetic Analysis, Techniques and Applications (GATA), p. 117-123, 1991

• DOI for Genetic analysis of the polymorphism of the human apolipoprotein E using automated solid-phase sequencing

[Molecular genetics of aspartylglucosaminuria]

Palotie, L; Ikonen, E; Syvänen, Ann-Christine; Halila, R et al.

Part of Duodecim; lääketieteellinen aikakauskirja, p. 1916-1925, 1991

Amplification of the hypervariable region close to the apolipoprotein B gene: application to forensic problems

Vuorio, A F; Sajantila, A; Hämäläinen, T; Syvänen, Ann-Christine et al.

Part of Biochemical and Biophysical Research Communications - BBRC, p. 616-620, 1990

• DOI for Amplification of the hypervariable region close to the apolipoprotein B gene: application to forensic problems

A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E

Syvänen, Ann-Christine; Aalto-Setälä, K; Harju, L; Kontula, K et al.

Part of Genomics, p. 684-692, 1990

• DOI for A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E

Apolipoprotein E polymorphism determined by restriction enzyme analysis of DNA amplified by polymerase chain reaction: convenient alternative to phenotyping by isoelectric focusing

Kontula, K; Aalto-Setälä, K; Kuusi, T; Hämäläinen, L et al.

Part of Clinical Chemistry, p. 2087-2092, 1990

Sandwich hybridization in solution: a rapid method to screen HPV 16 DNA in cervical scrapes

Parkkinen, S; Mäntyjärvi, R; Syrjänen, K; Syvänen, Ann-Christine et al.

Part of Molecular and Cellular Probes, p. 1-11, 1989

• DOI for Sandwich hybridization in solution: a rapid method to screen HPV 16 DNA in cervical scrapes

Direct sequencing of affinity-captured amplified human DNA application to the detection of apolipoprotein E polymorphism

Syvänen, Ann-Christine; Aalto-Setälä, K; Kontula, K; Söderlund, H

Part of FEBS Letters, p. 71-74, 1989

• DOI for Direct sequencing of affinity-captured amplified human DNA application to the detection of apolipoprotein E polymorphism

Nucleic acid sandwich hybridization: enhanced reaction rate with magnetic microparticles as carriers

Jungell-Nortamo, A; Syvänen, Ann-Christine; Luoma, P; Söderlund, H

Part of Molecular and Cellular Probes, p. 281-288, 1988

• DOI for Nucleic acid sandwich hybridization: enhanced reaction rate with magnetic microparticles as carriers

Quantification of polymerase chain reaction products by affinity-based hybrid collection

Syvänen, Ann-Christine; Bengtström, M; Tenhunen, J; Söderlund, H

Part of Nucleic Acids Research, p. 11327-11338, 1988

Sensitive detection of genes by sandwich hybridization and time-resolved fluorometry

Dahlén, P; Syvänen, Ann-Christine; Hurskainen, P; Kwiatkowski, M et al.

Part of Molecular and Cellular Probes, p. 159-168, 1987

• DOI for Sensitive detection of genes by sandwich hybridization and time-resolved fluorometry

[DNA identification in the diagnosis of infectious diseases]: [status in the present and near future]

Ranki, M; Syvänen, Ann-Christine

Part of Duodecim; lääketieteellinen aikakauskirja, p. 1126-1133, 1987

Fast quantification of nucleic acid hybrids by affinity-based hybrid collection

Syvänen, Ann-Christine; Laaksonen, M; Söderlund, H

Part of Nucleic Acids Research, p. 5037-5048, 1986

Time-resolved fluorometry: a sensitive method to quantify DNA-hybrids

Syvänen, Ann-Christine; Tchen, P; Ranki, M; Söderlund, H

Part of Nucleic Acids Research, p. 1017-1028, 1986

Nucleic acid hybridization: from research tool to routine diagnostic method

Syvänen, Ann-Christine

Part of Medical biology, p. 313-324, 1986

A complex of single-strand binding protein and M13 DNA as hybridization probe

Syvänen, Ann-Christine; Alanen, M; Söderlund, H

Part of Nucleic Acids Research, p. 2789-2802, 1985

Cytomegalovirus in urine: detection of viral DNA by sandwich hybridization

Virtanen, M; Syvänen, Ann-Christine; Oram, J; Söderlund, H et al.

Part of Journal of Clinical Microbiology, p. 1083-1088, 1984

Immunoassay of molecular forms of human plasma kininogen and detection of low Mr fragments of kininogen by means of a conformation-dependent antigenic determinant

Hamberg, U; Syvanen, Ann-Christine; Karkkainen, T

Part of Advances in Experimental Medicine and Biology, p. 175-182, 1983

Conformation and sequence dependent antigenic determinants in human low molecular weight kininogen

Syvänen, Ann-Christine; Kärkkäinen, T; Hamberg, U

Part of Molecular Immunology, p. 669-678, 1983

• DOI for Conformation and sequence dependent antigenic determinants in human low molecular weight kininogen

Isolation and immunologic properties of a heterogeneous antigen with the characteristics of the heavy chain of human plasma kininogen

Kärkkäinen, T; Syvänen, Ann-Christine; Turpeinen, U; Hamberg, U

Part of Molecular Immunology, p. 179-189, 1982

• DOI for Isolation and immunologic properties of a heterogeneous antigen with the characteristics of the heavy chain of human plasma kininogen

Identification in human plasma of low Mr protein fragments with antigenic determinants of kininogen

Hamberg, U; Syvänen, Ann-Christine; Siimesmaa, S

Part of FEBS Letters, p. 128-132, 1982

• DOI for Identification in human plasma of low Mr protein fragments with antigenic determinants of kininogen

Kininogen in factor VIII-deficient plasma (haemophilia A)

Syvänen, Ann-Christine; Hedner, U; Hamberg, U

Part of Thrombosis Research, p. 275-284, 1981

• DOI for Kininogen in factor VIII-deficient plasma (haemophilia A)

A radioimmunoassay for the detection of molecular forms of human plasma kininogen

Syvänen, Ann-Christine; Turpeinen, U; Siimesmaa, S; Hamberg, U

Part of FEBS Letters, p. 241-245, 1981

Kininogen molecular heterogeneity by affinity chromatography on concanavalin A and Ricinus communis lectins

Turpeinen, U; Syvänen, Ann-Christine; Hamberg, U

Part of FEBS Letters, p. 137-142, 1981

• DOI for Kininogen molecular heterogeneity by affinity chromatography on concanavalin A and Ricinus communis lectins

Potentiation of bradykinin with synthetic peptides on guinea pig ileum

Ragnarsson, U; Syvänen, Ann-Christine; Hamberg, U

Part of International journal of peptide and protein research, p. 61-68, 1981

Human kininogen from Cohns Fraction IV: comparisons of antigenicity and multiple forms

Hamberg, U; Syvanen, Ann-Christine; Karkkainen, T

Part of Advances in Experimental Medicine and Biology, p. 173-183, 1979

From early methods for DNA diagnostics to genomes and epigenomes at high resolution during four decades: a personal perspective

Syvänen, Ann-Christine

Part of Upsala Journal of Medical Sciences, 2024

• DOI for From early methods for DNA diagnostics to genomes and epigenomes at high resolution during four decades: a personal perspective
• Download full text (pdf) of From early methods for DNA diagnostics to genomes and epigenomes at high resolution during four decades: a personal perspective

Epigenetics in pediatric acute lymphoblastic leukemia

Nordlund, Jessica; Syvänen, Ann-Christine

Part of Seminars in Cancer Biology, p. 129-138, 2018

• DOI for Epigenetics in pediatric acute lymphoblastic leukemia
• Download full text (pdf) of Epigenetics in pediatric acute lymphoblastic leukemia

Analysis of DNA sequence variation in the microarray format

Liljedahl, Ulrika; Fredriksson, Mona; Syvänen, Ann-Christine

Part of Microarray Technology and Its Applications, p. 211-227, Springer, 2005

Genotyping single-nucleotide polymorphisms by minisequencing using tag arrays

Lovmar, Lovisa; Syvänen, Ann-Christine

Part of Microarrays in Clinical Diagnostics, p. 79-92, Humana Press, 2005

• DOI for Genotyping single-nucleotide polymorphisms by minisequencing using tag arrays

Multiplex minisequencing on microarrays: Applications to pharmacogenetics of antihypertensive drug response

Liljedahl, Ulrika; Syvänen, Ann-Christine

Part of Pharmacogenomics, p. 341-351, Taylor & Francis, 2005

Microarrays: Use in Mutation Detection

Syvänen, Ann-Christine

Part of Nature encyclopedia of the human genome, p. 940-944, Nature Publishing Group, 2003

Analysis of genetic variation in the GenomEUtwin project.

Silander, Kaisa; Axelsson, Tomas; Widén, Elisabeth; Dahlgren, Andreas et al.

2003

Finemapping of a QTL for body height on the human X chromosome in a Finnish twin cohort.

Dahlgren, Andreas; Perola, Markus; Liljedahl, Ulrika; Kaprio, Jaakko et al.

Rate of introgression in island versus clinal hybrid zones of Ficedula flycatchers are consistent with regional differences in hybrid fertility

Borge, Thomas; Lindroos, Katarina; Nadvornik, Petr; Syvänen, Ann-Christine et al.

Detection of alternatively spliced transcripts in leukaemia cell lines by minisequencing on microarrays

Fredriksson, Mona; Syvänen, Ann-Christine

A Microarray Method for the Simultaneous Genotyping of Helicobacter pylori Strains and Human Cytokines

Storm, Martin; Persson, Christina; Lovmar, Lovisa; Andersson, Anders et al.

Sex-linked speciation in Ficedula flycatchers

Borge, Thomas; Lindroos, Katarina; Haavie, Jon; Primmer, Craig et al.

Identification of somatic single nucleotide variants inleukemia by targeted sequencing of non-indexed overlapping pools

Lindqvist, Carl Mårten; Dahlberg, Johan; Raine, Amanda; Övernäs, Elin et al.

Identification of trait-associated single nucleotide polymorphisms with cis-regulatory effects on long non-coding RNAs

Lundmark, Per; Lundmark, Anders; Liljedahl, Ulrika; Enström, Camilla et al.

Refined detection and phasing of structural aberrations in pediatric acute lymphoblastic leukemia with linked-read whole genome sequencing

Nordlund, Jessica; Marincevic-Zuniga, Yanara; Cavelier, Lucia; Raine, Amanda et al.

Dissection of genes in the type I interferon pathway reveals two novel risk loci for SLE

Sandling, Johanna K; Garnier, Sophie; Sigurdsson, Snaevar; Wang, Chuan et al.

From genetic predisposition to clinical outcome in systemic lupus erythematosus: construction and validation of sub-phenotype-specific genetic risk scores

Reid, Sarah; Sandling, Johanna K.; Pucholt, Pascal; Sayadi, Ahmed et al.

Variants in BANK1 are associated with lupus nephritis

Bolin, Karin; Leonard, Dag; Sandling, Johanna K.; Imgenberg-Kreuz, Juliana et al.