Syvänen AC

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Family name Syvänen
Given name Ann-Christine
Initials AC
ORCID

ORCID 0000-0002-9681-9146
Affiliations Department of Medical Sciences, Molecular Medicine and Science for Life Laboratory, Uppsala University,Sweden.

126 publications

PubMed DOI Crossref
Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia.
Krali O, Marincevic-Zuniga Y, Arvidsson G, ..., Syvänen AC, Nordlund J
NPJ Precis Oncol 7 (1) 131 [2023-12-08; online 2023-12-08]
Clinical Genomics Stockholm [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide association study of angioedema induced by angiotensin-converting enzyme inhibitor and angiotensin receptor blocker treatment.
Rasmussen ER, Hallberg P, Baranova EV, ..., Palmer CNA, Wadelius M
Pharmacogenomics J. 20 (6) 770-783 [2020-12-00; online 2020-02-21]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Association of aberrant ASNS imprinting with asparaginase sensitivity and chromosomal abnormality in childhood BCP-ALL.
Watanabe A, Miyake K, Nordlund J, ..., Sugita K, Inukai T
Blood 136 (20) 2319-2333 [2020-11-12; online 2020-06-24]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling.
Lundtoft C, Pucholt P, Imgenberg-Kreuz J, ..., Rönnblom L, Hagberg N
PLoS Genet. 16 (10) e1009199 [2020-10-00; online 2020-10-26]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia.
Ivanov Öfverholm I, Zachariadis V, Taylan F, ..., Nordlund J, Barbany G
Leuk. Lymphoma 61 (3) 604-613 [2020-03-00; online 2019-10-22]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
High genetic risk score is associated with early disease onset, damage accrual and decreased survival in systemic lupus erythematosus.
Reid S, Alexsson A, Frodlund M, ..., Rönnblom L, Leonard D
Ann. Rheum. Dis. 79 (3) 363-369 [2020-03-00; online 2019-12-11]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Refined detection and phasing of structural aberrations in pediatric acute lymphoblastic leukemia by linked-read whole-genome sequencing.
Nordlund J, Marincevic-Zuniga Y, Cavelier L, ..., Lönnerholm G, Syvänen AC
Sci Rep 10 (1) 2512 [2020-02-13; online 2020-02-13]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Protein and DNA methylation-based scores as surrogate markers for interferon system activation in patients with primary Sjögren's syndrome.
Björk A, Richardsdotter Andersson E, Imgenberg-Kreuz J, ..., Nordmark G, Wahren-Herlenius M
RMD Open 6 (1) e000995 [2020-01-00; online 2020-01-21]
Affinity Proteomics Uppsala [Service] Bioinformatics Support for Computational Resources [Service] Clinical Biomarkers [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service] PLA and Single Cell Proteomics [Service]
PubMed DOI Crossref
Genetic variations in A20 DUB domain provide a genetic link to citrullination and neutrophil extracellular traps in systemic lupus erythematosus.
Odqvist L, Jevnikar Z, Riise R, ..., Collins B, Vaarala O
Ann. Rheum. Dis. 78 (10) 1363-1370 [2019-10-00; online 2019-07-12]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Shared and Unique Patterns of DNA Methylation in Systemic Lupus Erythematosus and Primary Sjögren's Syndrome.
Imgenberg-Kreuz J, Almlöf JC, Leonard D, ..., Sandling JK, Nordmark G
Front Immunol 10 (-) 1686 [2019-07-30; online 2019-07-30]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Circulating Levels of Interferon Regulatory Factor-5 Associates With Subgroups of Systemic Lupus Erythematosus Patients.
Idborg H, Zandian A, Ossipova E, ..., Svenungsson E, Jakobsson PJ
Front Immunol 10 (-) 1029 [2019-05-17; online 2019-05-17]
Affinity Proteomics Stockholm [Collaborative] Drug Discovery and Development (DDD) [Collaborative] Protein Science Facility (PSF) [Service]
PubMed DOI Crossref
Interferon signature in patients with STAT1 gain-of-function mutation is epigenetically determined.
Kaleviste E, Saare M, Leahy TR, ..., Peterson P, Kisand K
Eur. J. Immunol. 49 (5) 790-800 [2019-05-00; online 2019-03-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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 FHG, Dahlqvist J, Kozyrev SV, ..., Rönnblom L, Lindblad-Toh K
Eur. J. Hum. Genet. 27 (3) 432-441 [2019-03-00; online 2018-11-20]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Allele-Specific Methylation of SPDEF: A Novel Moderator of Psychosocial Stress and Substance Abuse.
Tay N, Macare C, Liu Y, ..., Schumann G, IMAGEN Consortium
Am J Psychiatry 176 (2) 146-155 [2019-02-01; online 2018-12-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus.
Almlöf JC, Nystedt S, Leonard D, ..., Sandling JK, Syvänen AC
Hum. Genet. 138 (2) 141-150 [2019-02-00; online 2019-02-01]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits.
Morin A, Madore AM, Kwan T, ..., Pastinen T, Laprise C
Eur. J. Hum. Genet. 27 (1) 90-101 [2019-01-00; online 2018-09-11]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Neuronal Expression of Opioid Gene is Controlled by Dual Epigenetic and Transcriptional Mechanism in Human Brain.
Bazov I, Sarkisyan D, Kononenko O, ..., Yakovleva T, Bakalkin G
Cereb. Cortex 28 (9) 3129-3142 [2018-09-01; online 2017-10-03]
Bioinformatics Support for Computational Resources [Service] Fluorescence Tissue Profiling [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Epigenetics in pediatric acute lymphoblastic leukemia.
Nordlund J, Syvänen AC
Semin. Cancer Biol. 51 (-) 129-138 [2018-08-00; online 2017-09-05]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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 N, Joelsson M, Leonard D, ..., Bryceson YT, Rönnblom L
Ann. Rheum. Dis. 77 (7) 1070-1077 [2018-07-00; online 2018-02-23]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Novel gene variants associated with cardiovascular disease in systemic lupus erythematosus and rheumatoid arthritis.
Leonard D, Svenungsson E, Dahlqvist J, ..., Criswell LA, Rönnblom L
Ann. Rheum. Dis. 77 (7) 1063-1069 [2018-07-00; online 2018-03-07]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcription profiling of peripheral B cells in antibody-positive primary Sjögren's syndrome reveals upregulated expression of CX3CR1 and a type I and type II interferon signature.
Imgenberg-Kreuz J, Sandling JK, Björk A, ..., Syvänen AC, Nordmark G
Scand. J. Immunol. 87 (5) e12662 [2018-05-00; online 2018-04-15]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
DNA methylation mapping identifies gene regulatory effects in patients with systemic lupus erythematosus.
Imgenberg-Kreuz J, Carlsson Almlöf J, Leonard D, ..., Syvänen AC, Sandling JK
Ann. Rheum. Dis. 77 (5) 736-743 [2018-05-00; online 2018-02-01]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
De novo mutations implicate novel genes in systemic lupus erythematosus.
Pullabhatla V, Roberts AL, Lewis MJ, ..., Syvänen AC, Vyse TJ
Hum. Mol. Genet. 27 (3) 421-429 [2018-02-01; online 2017-11-28]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Novel risk genes for systemic lupus erythematosus predicted by random forest classification
Almlöf JC, Alexsson A, Imgenberg-Kreuz J, ..., Sandling JK, Syvänen AC
Sci Rep 7 (1) - [2017-12-00; online 2017-07-24]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population.
Ameur A, Dahlberg J, Olason P, ..., Magnusson PK, Gyllensten U
Eur. J. Hum. Genet. 25 (11) 1253-1260 [2017-11-00; online 2017-08-23]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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 RJ, Silveira A, Hoed MD, ..., Hamsten A, IMPROVE study group
Atherosclerosis 266 (-) 196-204 [2017-09-28; online 2017-09-28]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcriptome sequencing in pediatric acute lymphoblastic leukemia identifies fusion genes associated with distinct DNA methylation profiles.
Marincevic-Zuniga Y, Dahlberg J, Nilsson S, ..., Nordlund J, Syvänen AC
J Hematol Oncol 10 (1) 148 [2017-08-14; online 2017-08-14]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transancestral mapping and genetic load in systemic lupus erythematosus.
Langefeld CD, Ainsworth HC, Cunninghame Graham DS, ..., Gaffney PM, Vyse TJ
Nat Commun 8 (-) 16021 [2017-07-17; online 2017-07-17]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.
Manning A, Highland HM, Gasser J, ..., Gloyn AL, Lindgren CM
Diabetes 66 (7) 2019-2032 [2017-07-00; online 2017-03-24]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genetic loci associated with heart rate variability and their effects on cardiac disease risk.
Nolte IM, Munoz ML, Tragante V, ..., Snieder H, de Geus EJC
Nat Commun 8 (-) 15805 [2017-06-14; online 2017-06-14]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
SPlinted Ligation Adapter Tagging (SPLAT), a novel library preparation method for whole genome bisulphite sequencing.
Raine A, Manlig E, Wahlberg P, Syvänen AC, Nordlund J
Nucleic Acids Res. 45 (6) e36 [2017-04-07; online 2016-12-03]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
Damaged reward areas in human alcoholics: neuronal proportion decline and astrocyte activation.
Sarkisyan D, Bazov I, Watanabe H, ..., Yakovleva T, Bakalkin G
Acta Neuropathol. 133 (3) 485-487 [2017-03-00; online 2017-01-17]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Genome-wide DNA methylation analysis in multiple tissues in primary Sjögren's syndrome reveals regulatory effects at interferon-induced genes.
Imgenberg-Kreuz J, Sandling JK, Almlöf JC, ..., Syvänen AC, Nordmark G
Ann. Rheum. Dis. 75 (11) 2029-2036 [2016-11-00; online 2016-02-08]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Genome-wide repression of eRNA and target gene loci by the ETV6-RUNX1 fusion in acute leukemia.
Teppo S, Laukkanen S, Liuksiala T, ..., Heinäniemi M, Lohi O
Genome Res. 26 (11) 1468-1477 [2016-11-00; online 2016-09-12]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
DNA methylome analysis of acute lymphoblastic leukemia cells reveals stochastic de novo DNA methylation in CpG islands.
Wahlberg P, Lundmark A, Nordlund J, ..., Lönnerholm G, Syvänen AC
Epigenomics 8 (10) 1367-1387 [2016-10-00; online 2016-08-23]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.
Ehret GB, Ferreira T, Chasman DI, ..., Newton-Cheh C, Munroe PB
Nat. Genet. 48 (10) 1171-1184 [2016-10-00; online 2016-09-12]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Soluble CD93 Is Involved in Metabolic Dysregulation but Does Not Influence Carotid Intima-Media Thickness.
Strawbridge RJ, Hilding A, Silveira A, ..., Bäcklund A, IMPROVE Study Group
Diabetes 65 (10) 2888-2899 [2016-10-00; online 2016-09-24]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Deep targeted sequencing in pediatric acute lymphoblastic leukemia unveils distinct mutational patterns between genetic subtypes and novel relapse-associated genes.
Lindqvist CM, Lundmark A, Nordlund J, ..., Berglund EC, Syvänen AC
Oncotarget 7 (39) 64071-64088 [2016-09-27; online 2016-09-04]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells.
Morin A, Kwan T, Ge B, ..., Lathrop MG, Pastinen T
BMC Med Genomics 9 (1) 59 [2016-09-13; online 2016-09-13]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
The genetic architecture of type 2 diabetes.
Fuchsberger C, Flannick J, Teslovich TM, ..., Altshuler D, McCarthy MI
Nature 536 (7614) 41-47 [2016-08-04; online 2016-07-11]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.
Madrigal I, Alvarez-Mora MI, Rosell J, ..., Syvänen AC, Mila M
Eur. J. Hum. Genet. 24 (8) 1117-1123 [2016-08-00; online 2016-01-07]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Genetic determinants of warfarin maintenance dose and time in therapeutic treatment range: a RE-LY genomics substudy.
Eriksson N, Wallentin L, Berglund L, ..., Yusuf S, Wadelius M
Pharmacogenomics 17 (13) 1425-1439 [2016-08-00; online 2016-08-04]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Epigenome-wide DNA methylation patterns associated with fatigue in primary Sjögren's syndrome.
Brække Norheim K, Imgenberg-Kreuz J, Jonsdottir K, ..., Nordmark G, Omdal R
Rheumatology (Oxford) 55 (6) 1074-1082 [2016-06-00; online 2016-03-12]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
CopyNumber450kCancer: baseline correction for accurate copy number calling from the 450k methylation array.
Marzouka NA, Nordlund J, Bäcklin CL, ..., Syvänen AC, Carlsson Almlöf J
Bioinformatics 32 (7) 1080-1082 [2016-04-01; online 2015-11-09]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
Genome-wide association and Mendelian randomization study of NT-proBNP in patients with acute coronary syndrome.
Johansson Å, Eriksson N, Lindholm D, ..., Wallentin L, PLATO Investigators
Hum. Mol. Genet. 25 (7) 1447-1456 [2016-04-01; online 2016-02-26]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Epigenetic profiling in CD4+ and CD8+ T cells from Graves' disease patients reveals changes in genes associated with T cell receptor signaling.
Limbach M, Saare M, Tserel L, ..., Milani L, Peterson P
J. Autoimmun. 67 (-) 46-56 [2016-02-00; online 2015-10-16]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
PAX5-ESRRB is a recurrent fusion gene in B-cell precursor pediatric acute lymphoblastic leukemia.
Marincevic-Zuniga Y, Zachariadis V, Cavelier L, ..., Syvänen AC, Nordlund J
Haematologica 101 (1) e20-e23 [2016-01-00; online 2015-10-22]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.
Bentham J, Morris DL, Cunninghame Graham DS, ..., Alarcón-Riquelme ME, Vyse TJ
Nat. Genet. 47 (12) 1457-1464 [2015-12-00; online 2015-10-27]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
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 A, Pöllänen E, Ismail K, ..., Kovanen V, Ollikainen M
Twin Res Hum Genet 18 (6) 647-661 [2015-12-00; online 2015-12-19]
NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.
Winkler TW, Justice AE, Graff M, ..., Kutalik Z, Loos RJ
PLoS Genet. 11 (10) e1005378 [2015-10-00; online 2015-10-01]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Effect of genetic variations on ticagrelor plasma levels and clinical outcomes.
Varenhorst C, Eriksson N, Johansson Å, ..., Wallentin L, PLATO Investigators
Eur. Heart J. 36 (29) 1901-1912 [2015-08-01; online 2015-05-04]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.
Ng E, Salihovic S, Lind PM, ..., Morris AP, Lind L
Environ. Res. 140 (-) 95-101 [2015-07-00; online 2015-04-04]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
IFN-α production by plasmacytoid dendritic cell associations with polymorphisms in gene loci related to autoimmune and inflammatory diseases.
Berggren O, Alexsson A, Morris DL, ..., Rönnblom L, Eloranta ML
Hum. Mol. Genet. 24 (12) 3571-3581 [2015-06-15; online 2015-03-18]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
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 Å, Eriksson N, Becker RC, ..., Siegbahn A, PLATO Investigators
Circ Cardiovasc Genet 8 (3) 498-506 [2015-06-00; online 2015-03-10]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Age- and sex-specific causal effects of adiposity on cardiovascular risk factors.
Fall T, Hägg S, Ploner A, ..., Ingelsson E, ENGAGE Consortium
Diabetes 64 (5) 1841-1852 [2015-05-00; online 2015-02-26]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Adiposity as a cause of cardiovascular disease: a Mendelian randomization study.
Hägg S, Fall T, Ploner A, ..., Ingelsson E, European Network for Genetic and Genomic Epidemiology Consortium
Int J Epidemiol 44 (2) 578-586 [2015-04-00; online 2015-05-27]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
GWAS-identified loci for coronary heart disease are associated with intima-media thickness and plaque presence at the carotid artery bulb.
den Hoed M, Strawbridge RJ, Almgren P, ..., Melander O, Lind L
Atherosclerosis 239 (2) 304-310 [2015-04-00; online 2015-02-16]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
DNA methylation-based subtype prediction for pediatric acute lymphoblastic leukemia.
Nordlund J, Bäcklin CL, Zachariadis V, ..., Forestier E, Syvänen AC
Clin Epigenetics 7 (-) 11 [2015-02-17; online 2015-02-17]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic studies of body mass index yield new insights for obesity biology.
Locke AE, Kahali B, Berndt SI, ..., Loos RJF, Speliotes EK
Nature 518 (7538) 197-206 [2015-02-12; online 2015-02-13]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
New genetic loci link adipose and insulin biology to body fat distribution.
Shungin D, Winkler TW, Croteau-Chonka DC, ..., Lindgren CM, Mohlke KL
Nature 518 (7538) 187-196 [2015-02-12; online 2015-02-13]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.
Mahajan A, Sim X, Ng HJ, ..., Gloyn AL, T2D-GENES consortium and GoT2D consortium
PLoS Genet. 11 (1) e1004876 [2015-01-00; online 2015-01-27]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
The mutational landscape in pediatric acute lymphoblastic leukemia deciphered by whole genome sequencing.
Lindqvist CM, Nordlund J, Ekman D, ..., Syvänen AC, Berglund EC
Hum. Mutat. 36 (1) 118-128 [2015-01-00; online 2014-10-31]
Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes.
Madrigal I, Alvarez-Mora MI, Karlberg O, ..., Syvänen AC, Milà M
J. Clin. Pathol. 67 (12) 1099-1103 [2014-12-00; online 2014-10-02]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Defining the role of common variation in the genomic and biological architecture of adult human height.
Wood AR, Esko T, Yang J, ..., Hirschhorn JN, Frayling TM
Nat. Genet. 46 (11) 1173-1186 [2014-11-00; online 2014-10-06]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs.
Adoue V, Schiavi A, Light N, ..., Syvänen A, Pastinen T
Mol. Syst. Biol. 10 (-) 754 [2014-10-16; online 2014-10-16]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic variation in the CYP1A1 gene is related to circulating PCB118 levels in a population-based sample.
Lind L, Penell J, Syvänen AC, ..., van Bavel B, Lind PM
Environ. Res. 133 (-) 135-140 [2014-08-00; online 2014-06-14]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
Arking DE, Pulit SL, Crotti L, ..., de Bakker PIW, Newton-Cheh C
Nat. Genet. 46 (8) 826-836 [2014-08-00; online 2014-06-24]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Influence of coronary artery disease-associated genetic variants on risk of venous thromboembolism.
Bruzelius M, Strawbridge RJ, Trégouët D, ..., Odeberg J, Hamsten A
Thromb. Res. 134 (2) 426-432 [2014-08-00; online 2014-04-22]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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Single nucleotide polymorphisms with cis-regulatory effects on long non-coding transcripts in human primary monocytes.
Almlöf JC, Lundmark P, Lundmark A, ..., Ouwehand WH, Syvänen AC
PLoS ONE 9 (7) e102612 [2014-07-15; online 2014-07-15]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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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 J, Lind L, Fall T, ..., Ingelsson E, Lind PM
Environ Health 13 (1) 34 [2014-05-08; online 2014-05-08]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
A central role for GRB10 in regulation of islet function in man.
Prokopenko I, Poon W, Mägi R, ..., Groop L, Lyssenko V
PLoS Genet. 10 (4) e1004235 [2014-04-00; online 2014-04-03]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium , Asian Genetic Epidemiology Network Type 2 Diabetes (AGEN-T2D) Consortium , South Asian Type 2 Diabetes (SAT2D) Consortium , ..., McCarthy MI, Morris AP
Nat. Genet. 46 (3) 234-244 [2014-03-00; online 2014-02-11]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Association of STAT4 polymorphism with severe renal insufficiency in lupus nephritis.
Bolin K, Sandling JK, Zickert A, ..., Gunnarsson I, Nordmark G
PLoS ONE 8 (12) e84450 [2013-12-27; online 2013-12-27]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Accurate detection of subclonal single nucleotide variants in whole genome amplified and pooled cancer samples using HaloPlex target enrichment.
Berglund EC, Lindqvist CM, Hayat S, ..., Lönnerholm G, Syvänen AC
BMC Genomics 14 (-) 856 [2013-12-05; online 2013-12-05]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Association of genes in the NF-κB pathway with antibody-positive primary Sjögren's syndrome.
Nordmark G, Wang C, Vasaitis L, ..., Syvänen AC, UK Primary Sjögren’s Syndrome Registry
Scand. J. Immunol. 78 (5) 447-454 [2013-11-00; online 2013-08-16]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories.
't Hoen PA, Friedländer MR, Almlöf J, ..., Dermitzakis ET, Lappalainen T
Nat. Biotechnol. 31 (11) 1015-1022 [2013-11-00; online 2013-09-17]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Transcriptome and genome sequencing uncovers functional variation in humans.
Lappalainen T, Sammeth M, Friedländer MR, ..., Estivill X, Dermitzakis ET
Nature 501 (7468) 506-511 [2013-09-26; online 2013-09-17]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide signatures of differential DNA methylation in pediatric acute lymphoblastic leukemia.
Nordlund J, Bäcklin CL, Wahlberg P, ..., Lönnerholm G, Syvänen AC
Genome Biol. 14 (9) r105 [2013-09-24; online 2013-09-24]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations.
Wang C, Ahlford A, Järvinen TM, ..., Syvänen AC, Sandling JK
Eur. J. Hum. Genet. 21 (9) 994-999 [2013-09-00; online 2012-12-20]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Global DNA hypermethylation is associated with high serum levels of persistent organic pollutants in an elderly population.
Lind L, Penell J, Luttropp K, ..., Ingelsson E, Lind PM
Environ Int 59 (-) 456-461 [2013-09-00; online 2013-08-13]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic variation in the dimethylarginine dimethylaminohydrolase 1 gene (DDAH1) is related to asymmetric dimethylarginine (ADMA) levels, but not to endothelium-dependent vasodilation.
Lind L, Ingelsson E, Kumar J, ..., Axelsson T, Teerlink T
Vasc Med 18 (4) 192-199 [2013-08-00; online 2013-07-31]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
SNP in TXNRD2 associated with radiation-induced fibrosis: a study of genetic variation in reactive oxygen species metabolism and signaling.
Edvardsen H, Landmark-Høyvik H, Reinertsen KV, ..., Fosså SD, Kristensen VN
Int. J. Radiat. Oncol. Biol. Phys. 86 (4) 791-799 [2013-07-15; online 2013-04-20]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
The role of adiposity in cardiometabolic traits: a Mendelian randomization analysis.
Fall T, Hägg S, Mägi R, ..., Prokopenko I, European Network for Genetic and Genomic Epidemiology (ENGAGE) consortium N
PLoS Med. 10 (6) e1001474 [2013-06-25; online 2013-06-25]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Coronary heart disease in systemic lupus erythematosus is associated with interferon regulatory factor-8 gene variants.
Leonard D, Svenungsson E, Sandling JK, ..., Syvänen AC, Rönnblom L
Circ Cardiovasc Genet 6 (3) 255-263 [2013-06-00; online 2013-05-11]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Contribution of IKBKE and IFIH1 gene variants to SLE susceptibility.
Wang C, Ahlford A, Laxman N, ..., Rönnblom L, Syvänen AC
Genes Immun. 14 (4) 217-222 [2013-06-00; online 2013-03-29]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Identification of a functional apolipoprotein E promoter polymorphism regulating plasma apolipoprotein E concentration.
Mannila MN, Mahdessian H, Franco-Cereceda A, ..., Hamsten A, van 't Hooft FM
Arterioscler. Thromb. Vasc. Biol. 33 (5) 1063-1069 [2013-05-00; online 2013-02-23]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Variation in genes in the endothelin pathway and endothelium-dependent and endothelium-independent vasodilation in an elderly population.
Lind L, Syvänen AC, Axelsson T, ..., Hägg S, Larsson A
Acta Physiol (Oxf) 208 (1) 88-94 [2013-05-00; online 2013-01-23]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic determinants of dabigatran plasma levels and their relation to bleeding.
Paré G, Eriksson N, Lehr T, ..., Yusuf S, Wallentin L
Circulation 127 (13) 1404-1412 [2013-04-02; online 2013-03-08]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic variants from lipid-related pathways and risk for incident myocardial infarction.
Song C, Pedersen NL, Reynolds CA, ..., Prince JA, Ingelsson E
PLoS ONE 8 (3) e60454 [2013-03-29; online 2013-03-29]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
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 A, Ngwa JS, Renström F, ..., McKeown NM, Nettleton JA
J. Nutr. 143 (3) 345-353 [2013-03-00; online 2013-01-25]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
A gene-centric study of common carotid artery remodelling.
Harrison SC, Zabaneh D, Asselbergs FW, ..., Hamsten A, Humphries SE
Atherosclerosis 226 (2) 440-446 [2013-02-00; online 2012-12-19]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Large-scale association analysis identifies new risk loci for coronary artery disease.
CARDIoGRAMplusC4D Consortium N, Deloukas P, Kanoni S, ..., Schunkert H, Samani NJ
Nat. Genet. 45 (1) 25-33 [2013-01-00; online 2012-12-04]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide profiling of target genes for the systemic lupus erythematosus-associated transcription factors IRF5 and STAT4.
Wang C, Sandling JK, Hagberg N, ..., Eloranta ML, Syvänen AC
Ann. Rheum. Dis. 72 (1) 96-103 [2013-01-00; online 2012-06-26]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation.
Huang J, Sabater-Lleal M, Asselbergs FW, ..., O'Donnell CJ, Hamsten A
Blood 120 (24) 4873-4881 [2012-12-06; online 2012-09-20]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Identification of the BCAR1-CFDP1-TMEM170A locus as a determinant of carotid intima-media thickness and coronary artery disease risk.
Gertow K, Sennblad B, Strawbridge RJ, ..., Humphries SE, Hamsten A
Circ Cardiovasc Genet 5 (6) 656-665 [2012-12-00; online 2012-11-16]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.
Morris AP, Voight BF, Teslovich TM, ..., McCarthy MI, DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium
Nat. Genet. 44 (9) 981-990 [2012-09-00; online 2012-08-14]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Evidence of association between interferon regulatory factor 5 gene polymorphisms and asthma.
Wang C, Rose-Zerilli MJ, Koppelman GH, ..., Syvänen AC, Dideberg V
Gene 504 (2) 220-225 [2012-08-10; online 2012-05-23]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Association between genetic variants in the tumour necrosis factor/lymphotoxin α/lymphotoxin β locus and primary Sjogren's syndrome in Scandinavian samples.
Bolstad AI, Le Hellard S, Kristjansdottir G, ..., Nordmark G, Jonsson R
Ann. Rheum. Dis. 71 (6) 981-988 [2012-06-00; online 2012-02-02]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Common and low-frequency genetic variants in the PCSK9 locus influence circulating PCSK9 levels.
Chernogubova E, Strawbridge R, Mahdessian H, ..., Hamsten A, van 't Hooft FM
Arterioscler. Thromb. Vasc. Biol. 32 (6) 1526-1534 [2012-06-00; online 2012-03-31]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Digital gene expression profiling of primary acute lymphoblastic leukemia cells.
Nordlund J, Kiialainen A, Karlberg O, ..., Lönnerholm G, Syvänen AC
Leukemia 26 (6) 1218-1227 [2012-06-00; online 2011-12-16]
Array and Analysis Facility NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
DNA methylation analysis of bone marrow cells at diagnosis of acute lymphoblastic leukemia and at remission.
Nordlund J, Milani L, Lundmark A, Lönnerholm G, Syvänen AC
PLoS ONE 7 (4) e34513 [2012-04-06; online 2012-04-06]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
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 Z, Hivert MF, Timpson N, ..., Rader DJ, Kathiresan S
PLoS Genet. 8 (3) e1002607 [2012-03-29; online 2012-03-29]
NGI Uppsala (SNP&SEQ Technology Platform) NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
The transcriptome of the adenovirus infected cell.
Zhao H, Dahlö M, Isaksson A, Syvänen AC, Pettersson U
Virology 424 (2) 115-128 [2012-03-15; online 2012-01-13]
Array and Analysis Facility NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
A genome-wide association search for type 2 diabetes genes in African Americans.
Palmer ND, McDonough CW, Hicks PJ, ..., Mooser V, Sladek R
PLoS ONE 7 (1) e29202 [2012-01-04; online 2012-01-04]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Salt-inducible kinase 1 influences Na(+),K(+)-ATPase activity in vascular smooth muscle cells and associates with variations in blood pressure.
Popov S, Silveira A, Wågsäter D, ..., Melander O, Bertorello AM
J. Hypertens. 29 (12) 2395-2403 [2011-12-00; online 2011-11-03]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Next-generation sequencing technologies and applications for human genetic history and forensics.
Berglund EC, Kiialainen A, Syvänen AC
Investig Genet 2 (-) 23 [2011-11-24; online 2011-11-24]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.
Strawbridge RJ, Dupuis J, Prokopenko I, ..., Hamsten A, Florez JC
Diabetes 60 (10) 2624-2634 [2011-10-00; online 2011-08-30]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Total zinc intake may modify the glucose-raising effect of a zinc transporter (SLC30A8) variant: a 14-cohort meta-analysis.
Kanoni S, Nettleton JA, Hivert MF, ..., Franks PW, Dedoussis GV
Diabetes 60 (9) 2407-2416 [2011-09-00; online 2011-08-04]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile.
Kilpeläinen TO, Zillikens MC, Stančákova A, ..., Laakso M, Loos RJ
Nat. Genet. 43 (8) 753-760 [2011-06-26; online 2011-06-26]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE.
Sandling JK, Garnier S, Sigurdsson S, ..., Rönnblom L, Syvänen AC
Eur. J. Hum. Genet. 19 (4) 479-484 [2011-04-00; online 2010-12-24]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome.
Nordmark G, Kristjansdottir G, Theander E, ..., Jonsson R, Syvänen AC
Genes Immun. 12 (2) 100-109 [2011-03-00; online 2010-09-23]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
CUBN is a gene locus for albuminuria.
Böger CA, Chen MH, Tin A, ..., Fox CS, Kao WH
J. Am. Soc. Nephrol. 22 (3) 555-570 [2011-03-00; online 2011-03-01]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Performance of microarray and liquid based capture methods for target enrichment for massively parallel sequencing and SNP discovery.
Kiialainen A, Karlberg O, Ahlford A, ..., Lindblad-Toh K, Syvänen AC
PLoS ONE 6 (2) e16486 [2011-02-09; online 2011-02-09]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
SNPs in genes coding for ROS metabolism and signalling in association with docetaxel clearance.
Edvardsen H, Brunsvig PF, Solvang H, ..., Aamdal S, Kristensen VN
Pharmacogenomics J. 10 (6) 513-523 [2010-12-00; online 2010-02-17]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
Heid IM, Jackson AU, Randall JC, ..., Mohlke KL, Lindgren CM
Nat. Genet. 42 (11) 949-960 [2010-11-00; online 2010-10-12]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Niemann-Pick C1 modulates hepatic triglyceride metabolism and its genetic variation contributes to serum triglyceride levels.
Uronen RL, Lundmark P, Orho-Melander M, ..., Syvänen AC, Ikonen E
Arterioscler. Thromb. Vasc. Biol. 30 (8) 1614-1620 [2010-08-00; online 2010-05-22]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Association of genetic risk variants with expression of proximal genes identifies novel susceptibility genes for cardiovascular disease.
Folkersen L, van't Hooft F, Chernogubova E, ..., Eriksson P, BiKE and ASAP study groups
Circ Cardiovasc Genet 3 (4) 365-373 [2010-08-00; online 2010-06-22]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap.
Vuong MT, Gunnarsson I, Lundberg S, ..., Jacobson SH, Padyukov L
PLoS ONE 5 (5) e10559 [2010-05-10; online 2010-05-10]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans.
Ingelsson E, Langenberg C, Hivert MF, ..., Florez JC, MAGIC investigators
Diabetes 59 (5) 1266-1275 [2010-05-00; online 2010-02-27]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
A STAT4 risk allele is associated with ischaemic cerebrovascular events and anti-phospholipid antibodies in systemic lupus erythematosus.
Svenungsson E, Gustafsson J, Leonard D, ..., Syvänen AC, Rönnblom L
Ann. Rheum. Dis. 69 (5) 834-840 [2010-05-00; online 2009-09-19]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Variation in STAT4 is associated with systemic lupus erythematosus in a Finnish family cohort.
Hellquist A, Sandling JK, Zucchelli M, ..., Syvänen AC, Kere J
Ann. Rheum. Dis. 69 (5) 883-886 [2010-05-00; online 2009-09-01]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Coffee consumption and CYP1A2 genotype in relation to bone mineral density of the proximal femur in elderly men and women: a cohort study.
Hallström H, Melhus H, Glynn A, ..., Syvänen AC, Michaëlsson K
Nutr Metab (Lond) 7 (-) 12 [2010-02-22; online 2010-02-22]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
DNA methylation for subtype classification and prediction of treatment outcome in patients with childhood acute lymphoblastic leukemia.
Milani L, Lundmark A, Kiialainen A, ..., Lönnerholm G, Syvänen AC
Blood 115 (6) 1214-1225 [2010-02-11; online 2009-11-25]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic variants and disease-associated factors contribute to enhanced interferon regulatory factor 5 expression in blood cells of patients with systemic lupus erythematosus.
Feng D, Stone RC, Eloranta ML, ..., Rönnblom L, Barnes BJ
Arthritis Rheum. 62 (2) 562-573 [2010-02-00; online 2010-01-30]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.
Saxena R, Hivert MF, Langenberg C, ..., Wareham NJ, Watanabe RM
Nat. Genet. 42 (2) 142-148 [2010-02-00; online 2010-01-19]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
PubMed DOI Crossref
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
Dupuis J, Langenberg C, Prokopenko I, ..., Florez JC, Barroso I
Nat. Genet. 42 (2) 105-116 [2010-02-00; online 2010-01-19]
NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
SciLifeLab Data Centre
Publications 9.5.1