Molecular Precision Medicine articles

  • Raine, Amanda; Lundmark, Anders; Annett, Alva; Wiman, Ann-Christin et al.

    scSPLAT, a scalable plate-based protocol for single cell WGBS library preparation

    Part of Scientific Reports, 2022.

    Open access
  • Skaftason, Aron; Qu, Ying; Abdulla, Maysaa; Nordlund, Jessica et al.

    Transcriptome sequencing of archived lymphoma specimens is feasible and clinically relevant using exome capture technology

    Part of Genes, Chromosomes and Cancer, p. 27-36, 2022.

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

    Variants in BANK1 are associated with lupus nephritis of European ancestry.

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

    Open access
  • Foox, Jonathan; Nordlund, Jessica; Lalancette, Claudia; Gong, Ting et al.

    The SEQC2 epigenomics quality control (EpiQC) study

    Part of Genome Biology, 2021.

    Open access
  • Zhao, Yongmei; Fang, Li Tai; Shen, Tsai-wei; Choudhari, Sulbha et al.

    Whole genome and exome sequencing reference datasets from a multi-center and cross-platform benchmark study

    Part of Scientific Data, 2021.

    Open access
  • Chen, Dongfeng; Camponeschi, Alessandro; Nordlund, Jessica; Marincevic‐Zuniga, Yanara et al.

    RAG1 co‐expression signature identifies ETV6‐RUNX1‐like B‐cell precursor acute lymphoblastic leukemia in children

    Part of Cancer Medicine, p. 3997-4003, 2021.

  • Mäkinen, Artturi; Nikkilä, Atte; Mehtonen, Juha; Teppo, Susanna et al.

    Expression of BCL6 in paediatric B-cell acute lymphoblastic leukaemia and association with prognosis

    Part of Pathology, p. 875-882, 2021.

    Open access
  • Xiao, Wenming; Ren, Luyao; Chen, Zhong; Fang, Li Tai et al.

    Toward best practice in cancer mutation detection with whole-genome and whole-exome sequencing

    Part of Nature Biotechnology, p. 1141-1150, 2021.

  • Fang, Li Tai; Zhu, Bin; Zhao, Yongmei; Chen, Wanqiu et al.

    Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing

    Part of Nature Biotechnology, p. 1151-1160, 2021.

  • Svensson, Emma; Günther, Torsten; Hoischen, Alexander; Hervella, Montserrat et al.

    Genome of Pesxtera Muierii skull shows high diversity and low mutational load in pre-glacial Europe

    Part of Current Biology, p. 2973-U21, 2021.

    Open access
  • Chen, Dongfeng; Camponeschi, Alessandro; Nordlund, Jessica; Marincevic-Zuniga, Yanara et al.

    RAG1 co-expression signature identifies ETV6-RUNX1-like B-cell precursor acute lymphoblastic leukemia in children

    Part of Cancer Medicine, p. 3997-4003, 2021.

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

    DNA Methylation-Based Interferon Scores Associate With Sub-Phenotypes in Primary Sjögren's Syndrome

    Part of Frontiers in Immunology, 2021.

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

    Mutational patterns and clonal evolution from diagnosis to relapse in pediatric acute lymphoblastic leukemia

    Part of Scientific Reports, 2021.

    Open access
  • Mattisson, Jonas; Danielsson, Marcus; Hammond, Maria; Davies, Hanna et al.

    Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99

    Part of Scientific Reports, 2021.

    Open access
  • Diamanti, Klev; Inda Díaz, Juan Salvador; Raine, Amanda; Pan, Gang et al.

    Single nucleus transcriptomics data integration recapitulates the major cell types in human liver

    Part of Hepatology Research, p. 233-238, 2021.

    Open access
  • Krali, Olga; Palle, J; Bäcklin, Christofer; Abrahamsson, Jonas et al.

    DNA Methylation Signatures Predict Cytogenetic Subtype and Outcome in Pediatric Acute Myeloid Leukemia (AML)

    Part of Genes, 2021.

    Open access
  • Dumanski, Jan P.; Halvardson, Jonatan; Davies, Hanna; Rychlicka-Buniowska, Edyta et al.

    Immune cells lacking Y chromosome show dysregulation of autosomal gene expression

    Part of Cellular and Molecular Life Sciences (CMLS), p. 4019-4033, 2021.

    Open access
  • Iurilli, Maria L. C.; Yi-Ting, Lin; Lind, Lars; Sundström, Johan et al.

    Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight NCD Risk Factor Collaboration (NCD-RisC)

    Part of eLIFE, 2021.

    Open access
  • Fellström, Bengt; Helmersson Karlqvist, Johanna; Lind, Lars; Soveri, Inga et al.

    Albumin Urinary Excretion Is Associated with Increased Levels of Urinary Chemokines, Cytokines, and Growth Factors Levels in Humans.

    Part of Biomolecules, 2021.

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

    Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing

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

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

    Contributions of de novo variants to systemic lupus erythematosus

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

    Open access
  • Duran-Ferrer, Marti; Clot, Guillem; Nadeu, Ferran; Beekman, Renee et al.

    The proliferative history shapes the DNA methylome of B-cell tumors and predicts clinical outcome

    Part of NATURE CANCER, p. 1066-1081, 2020.

  • Bacic, Luka; Sabantsev, Anton; Deindl, Sebastian

    Recent advances in single-molecule fluorescence microscopy render structural biology dynamic

    Part of Current opinion in structural biology, p. 61-68, 2020.

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

    Exome sequencing reveals common and rare variants in F5 associated with ACE inhibitor and angiotensin receptor blocker-induced angioedema

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

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

    Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling

    Part of PLoS Genetics, 2020.

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

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

    Part of Blood, p. 2319-2333, 2020.

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

    Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia

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

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

    Refined detection and phasing of structural aberrations in pediatric acute lymphoblastic leukemia by linked-read whole-genome sequencing

    Part of Scientific Reports, 2020.

    Open access
  • Gronroos, Toni; Makinen, Artturi; Laukkanen, Saara; Mehtonen, Juha et al.

    Clinicopathological features and prognostic value of SOX11 in childhood acute lymphoblastic leukemia

    Part of Scientific Reports, 2020.

    Open access
  • Almeida, Pedro; Proux-Wera, Estelle; Churcher, Allison; Soler, Lucile et al.

    Genome assembly of the basket willow, Salix viminalis, reveals earliest stages of sex chromosome expansion

    Part of BMC Biology, 2020.

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

    Protein and DNA methylation-based scores as surrogate markers for interferon system activation in patients with primary Sjögren's syndrome

    Part of RMD Open, 2020.

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

    High genetic risk score is associated with early disease onset, damage accrual and decreased survival in systemic lupus erythematosus

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

    Open access

Peer reviewed articles (prior to 2020)

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Almlöf JC, Nystedt S, Leonard D, Eloranta ML, Grosso G, Sjöwall C, Bengtsson AA, Jönsen A, Gunnarsson I, Svenungsson E, Rönnblom L, Sandling JK, Syvänen AC.
Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus. Hum Genet. 138(2):141-150, 2019


Imgenberg-Kreuz J, Sandling JK, Björk A, Nordlund J, Kvarnström M, Eloranta ML, Rönnblom L, Wahren-Herlenius M, Syvänen AC, Nordmark G.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. Scand J Immunol. 87(5):e12662, 2018

Åslin M, Brandt M, Dahlberg J. CheckQC: Quick quality control of Illumina sequencing runs. The Journal of Open Source Software, Vol. 3, nr 22, 2018


Almlöf JC, Alexsson A, Imgenberg-Kreuz J, Sylwan L, Bäcklin C, Leonard D,Nordmark G, Tandre K, Eloranta ML, Padyukov L, Bengtsson C, Jönsen A, Dahlqvist SR, Sjöwall C, Bengtsson AA, Gunnarsson I, Svenungsson E, Rönnblom L, Sandling JK, Syvänen A-C. Novel risk genes for systemic lupus erythematosus predicted by random forest classification. Science Reports 7(1):6236, 2017

Adam Ameur A, Dahlberg J, Olason P, Vezzi F, Karlsson R Martin M, Viklund J, Kusalananda Kähäri A, Lundin P, Che H, Thutkawkorapin J, Dahlberg M, Hagberg J, Jareborg N, Jonasson I, Johansson Å, Feuk L, Lundeberg J, Syvänen A-C, Lundin S, Nilsson D, Nystedt B, Magnusson P, GyllenstenU. SweGen: A whole-genome map of genetic variability in a cross-section of the Swedish population. Eur J Hum Genet. 25(11):1253-1260, 2017

Langefeld CD, Ainsworth HC, Cunninghame Graham DS, Kelly JA, Comeau ME, Marion MC, Howard TD, Ramos PS, Croker JA, Morris DL, Sandling JK, Almlöf JC, …… Rioux JD, Gregersen PK, Syvänen AC, Rönnblom L, Criswell LA, Jacob CO, Sivils KL, Tsao BP, Schanberg LE, Behrens TW, Silverman ED, Alarcón-Riquelme ME, Kimberly RP, Harley JB, Wakeland EK, Graham RR, Gaffney PM, Vyse TJ. Transancestral mapping and genetic load in systemic lupus erythematosus. Nat Commun. 8:16021, 2017

Marincevic-Zuniga Y, Dahlberg J, Nilsson S, Raine A, Nystedt SW, Lindqvist CM, Berglund EC, Abrahamsson J, Cavelier L, Forestier E, Heyman M, Lönnerholm G, Nordlund J, Syvänen A-C. Transcriptome sequencing in pediatric acute lymphoblastic leukemia identifies fusion genes associated with distinct DNA methylation profiles. Journal of Hematology & Oncology, in press, 2017.

Raine A, Manlig E, Wahlberg P, Syvänen A-C, Nordlund J (2017) SPlinted Ligation Adapter Tagging (SPLAT), a novel library preparation method for whole genome bisulphite sequencing. Nucleic Acids Res. 45(6):e36, 2017

Sarkisyan D, Bazov I, Watanabe H, Kononenko O, Syvänen A-C, Schumann G, Yakovleva T, Bakalkin G. Damaged reward areas in human alcoholics: neuronal proportion decline and astrocyte activation. Acta Neuropathol 133(3) :485-487, 2017


Brække Norheim K, Imgenberg-Kreuz J, Jonsdottir K, Janssen EAM, Syvänen A-C, Sandling JK, Nordmark G, Omdal R (2016) Epigenome-wide DNA methylation patterns associated with fatigue in primary Sjögren’s syndrome. Rheumatology 55(6), 1074-1082

Imgenberg-Kreuz J, Sandling JK, Almlöf JC, Nordlund J, Signér L, Norheim KB, Omdal R, Rönnblom L, Eloranta M-L, Syvänen A-C, Nordmark G (2016) Genome-wide DNA methylation analysis in multiple tissues in primary Sjögren's syndrome reveals regulatory effects at interferon-induced genes. Ann Rheum Dis 75(11), 2029-2036

Lindqvist CM, Lundmark A, Nordlund J, Freyhult E, Ekman D, Carlsson Almlöf J, Raine A, Övernäs E, Abrahamsson J, Frost B-M, Grandér D, Heyman M, Palle J, Forestier E, Lönnerholm G, Berglund EC, Syvänen A-C (2016) Deep targeted sequencing in pediatric acute lymphoblastic leukemia unveils distinct mutational patterns between genetic subtypes and novel relapse-associated genes. Oncotarget 7(39), 64071-64088

Marincevic-Zuniga Y, Zachariadis V, Cavelier L, Castor A, Barbany G, Forestier E, Fogelstrand L, Heyman M, Abrahamsson J, Lönnerholm G, Nordgren A, Syvänen A-C, Nordlund J (2016) PAX5-ESRRB is a recurrent fusion gene in B-cell precursor pediatric acute lymphoblastic leukemia. Haematologica 101(1), e20-e23

Marzouka N-a-d, Nordlund J, Bäcklin CL, Lönnerholm G, Syvänen A-C, Almlöf JC (2016) CopyNumber450kCancer: Baseline Correction for Accurate Copy Number Calling from the 450k Methylation Array. Bioinformatics 32(7), 1080-1082

Morin A, Kwan T, Ge B, Letourneau L, Ban M, Tandre K, Caron M, Sandling JK, Carlsson J, Bourque G, Laprise C, Montpetit A, Syvanen A-C, Ronnblom L, Sawcer SJ, Lathrop MG, Pastinen T (2016) Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells. BMC Med Genomics 9:59

Teppo S, Laukkanen S, Liuksiala T, Nordlund J, Oittinen M, Teittinen KJ, Grönroos T, St-Onge P, Sinnett D, Syvänen A-C, Nykter M, Viiri K, Heinäniemi M, Lohi O (2016) Genome-wide repression of eRNA and target gene loci by the ETV6-RUNX1 fusion in acute leukemia. Genome Res 26(11), 1468-1477

Wahlberg P, Lundmark A, Nordlund J, Busche S, Raine A, Tandre K, Rönnblom L, Sinnett D, Forestier E, Pastinen T, Lönnerholm G, Syvänen A-C (2016) DNA methylome analysis of acute lymphoblastic leukemia cells reveals stochastic de novo DNA methylation in CpG islands. Epigenomics 8(10), 1367-1387


Bahl A, Pöllänen E, Ismail K, Sipilä S, Mikkola TM, Berglund E, Lindqvist CM, Syvänen A-C, Rantanen T, Kaprio J, Kovanen V, Ollikainen M (2015) Hormone Replacement Therapy Associated White Blood Cell DNA Methylation and Gene Expression are Associated With Within-Pair Differences of Body Adiposity and Bone Mass. Twin Res Hum Genet 18(06), 647-661

Bentham J, Morris DL, Cunninghame Graham DS, Pinder CL, Tombleson P, Behrens TW, Martin J, Fairfax BP, Knight JC, Chen L, Replogle J, Syvanen A-C, Ronnblom L, Graham RR, Wither JE, Rioux JD, Alarcon-Riquelme ME, Vyse TJ (2015) Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. Nat Genet 47(12), 1457-1464

Berggren O, Alexsson A, Morris DL, Tandre K, Weber G, Vyse TJ, Syvänen A-C, Rönnblom L, Eloranta M-L (2015) IFN-α production by plasmacytoid dendritic cell associations with polymorphisms in gene loci related to autoimmune and inflammatory diseases. Hum Mol Genet 24(12), 3571-3581

den Hoed M, Strawbridge RJ, Almgren P, Gustafsson S, Axelsson T, Engström G, de Faire U, Hedblad B, Humphries SE, Lindgren CM, Morris AP, Östling G, Syvänen A-C, Tremoli E, Hamsten A, Ingelsson E, Melander O, Lind L (2015) GWAS-identified loci for coronary heart disease are associated with intima-media thickness and plaque presence at the carotid artery bulb. Atherosclerosis 239(2), 304-310

Hägg S, Fall T, Ploner A, Mägi R, Fischer K, Draisma HH, Kals M, de Vries PS, Dehghan A, Willems SM, Sarin A-P, Kristiansson K, Nuotio M-L, Havulinna AS, de Bruijn RF, Ikram MA, Kuningas M, Stricker BH, Franco OH, Benyamin B, Gieger C, Hall AS, Huikari V, Jula A, Järvelin M-R, Kaakinen M, Kaprio J, Kobl M, Mangino M, Nelson CP, Palotie A, Samani NJ, Spector TD, Strachan DP, Tobin MD, Whitfield JB, Uitterlinden AG, Salomaa V, Syvänen A-C, Kuulasmaa K, Magnusson PK, Esko T, Hofman A, de Geus EJ, Lind L, Giedraitis V, Perola M, Evans A, Ferrières J, Virtamo J, Kee F, Tregouet D-A, Arveiler D, Amouyel P, Gianfagna F, Brambilla P, Ripatti S, van Duijn CM, Metspalu A, Prokopenko I, McCarthy MI, Pedersen NL, Ingelsson E, European Network for Genetic and Genomic Epidemiology (ENGAGE) consortium (2015) Adiposity as a cause of cardiovascular disease: a Mendelian randomization study. Int J Epidemiol 44(2), 578-586

Lindqvist CM, Nordlund J, Ekman D, Johansson A, Moghadam BT, Raine A, Övernäs E, Dahlberg J, Wahlberg P, Henriksson N, Abrahamsson J, Frost B-M, Grandér D, Heyman M, Larsson R, Palle J, Söderhäll S, Forestier E, Lönnerholm G, Syvänen A-C, Berglund EC (2015) The Mutational Landscape in Pediatric Acute Lymphoblastic Leukemia Deciphered by Whole Genome Sequencing.Hum Mutat 36(1), 118-128

Nordlund J, Backlin C, Zachariadis V, Cavelier L, Dahlberg J, Ofverholm I, Barbany G, Nordgren A, Overnas E, Abrahamsson J, Flaegstad T, Heyman M, Jonsson O, Kanerva J, Larsson R, Palle J, Schmiegelow K, Gustafsson M, Lonnerholm G, Forestier E, Syvanen A-C (2015) DNA methylation-based subtype prediction for pediatric acute lymphoblastic leukemia. Clin Epigenetics 7(1), 11

Rivas MA, Pirinen M, Conrad DF, Lek M, Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, DeLuca DS, Fromer M, Ferreira PG, Smith KS, Zhang R, Zhao F, Banks E, Poplin R, Ruderfer DM, Purcell SM, Tukiainen T, Minikel EV, Stenson PD, Cooper DN, Huang KH, Sullivan TJ, Nedzel J, The GTEx Consortium, The Geuvadis Consortium, Bustamante CD, Li JB, Daly MJ, Guigo R, Donnelly P, Ardlie K, Sammeth M, Dermitzakis ET, McCarthy MI, Montgomery SB, Lappalainen T, MacArthur DG (2015) Effect of predicted protein-truncating genetic variants on the human transcriptome. Science 348(6235), 666-669


Adoue V, Schiavi A, Light N, Almlöf JC, Lundmark P, Ge B, Kwan T, Caron M, Rönnblom L, Wang C, Chen SH, Goodall AH, Cambien F, Deloukas P, Ouwehand WH, Syvänen AC, Pastinen T (2014) Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs. Mol Syst Biol10:754

Arking DE, Pulit SL, Crotti L, van der Harst P, Munroe PB, Koopmann TT, Sotoodehnia N, Rossin EJ, Morley M, Wang X, Johnson AD, Lundby A, Gudbjartsson DF, Noseworthy PA, Eijgelsheim M, Bradford Y, Tarasov KV, Dorr M, Muller-Nurasyid M, Lahtinen AM, Nolte IM, Smith AV, Bis JC, Isaacs A, Newhouse SJ, Evans DS, Post WS, Waggott D, Lyytikainen L-P, Hicks AA, Eisele L, Ellinghaus D, Hayward C, Navarro P, Ulivi S, Tanaka T, Tester DJ, Chatel S, Gustafsson S, Kumari M, Morris RW, Naluai AT, Padmanabhan S, Kluttig A, Strohmer B, Panayiotou AG, Torres M, Knoflach M, Hubacek JA, Slowikowski K, Raychaudhuri S, Kumar RD, Harris TB, Launer LJ, Shuldiner AR, Alonso A, Bader JS, Ehret G, Huang H, Kao WHL, Strait JB, Macfarlane PW, Brown M, Caulfield MJ, Samani NJ, Kronenberg F, Willeit J, CARe Consortium, Cogent Consortium, Smith JG, Greiser KH, Meyer zu Schwabedissen H, Werdan K, Carella M, Zelante L, Heckbert SR, Psaty BM, Rotter JI, Kolcic I, Polasek O, Wright AF, Griffin M, Daly MJ, Dcct/Edic, Arnar DO, Holm H, Thorsteinsdottir U, eMerge Consortium, Denny JC, Roden DM, Zuvich RL, Emilsson V, Plump AS, Larson MG, O'Donnell CJ, Yin X, Bobbo M, D'Adamo AP, Iorio A, Sinagra G, Carracedo A, Cummings SR, Nalls MA, Jula A, Kontula KK, Marjamaa A, Oikarinen L, Perola M, Porthan K, Erbel R, Hoffmann P, Jockel K-H, Kalsch H, Nothen MM, Hrgen Consortium, den Hoed M, Loos RJF, Thelle DS, Gieger C, Meitinger T, Perz S, Peters A, Prucha H, Sinner MF, Waldenberger M, de Boer RA, Franke L, van der Vleuten PA, Beckmann BM, Martens E, Bardai A, Hofman N, Wilde AAM, Behr ER, Dalageorgou C, Giudicessi JR, Medeiros-Domingo A, Barc J, Kyndt F, Probst V, Ghidoni A, Insolia R, Hamilton RM, Scherer SW, Brandimarto J, Margulies K, Moravec CE, Fabiola, Fuchsberger C, O'Connell JR, Lee WK, Watt GCM, Campbell H, Wild SH, El Mokhtari NE, Frey N, Asselbergs FW, Leach IM, Navis G, van den Berg MP, van Veldhuisen DJ, Kellis M, Krijthe BP, Franco OH, Hofman A, Kors JA, Uitterlinden AG, Witteman JCM, Kedenko L, Lamina C, Oostra BA, Abecasis GR, Lakatta EG, Mulas A, Orru M, Schlessinger D, Uda M, Markus MRP, Volker U, Snieder H, Spector TD, Arnlov J, Lind L, Sundstrom J, Syvänen A-C, Kivimaki M, Kahonen M, Mononen N, Raitakari OT, Viikari JS, Adamkova V, Kiechl S, Brion M, Nicolaides AN, Paulweber B, Haerting J, Dominiczak AF, Nyberg F, Whincup PH, Hingorani AD, Schott J-J, Bezzina CR, Ingelsson E, Ferrucci L, Gasparini P, Wilson JF, Rudan I, Franke A, Muhleisen TW, Pramstaller PP, Lehtimaki TJ, Paterson AD, Parsa A, Liu Y, van Duijn CM, Siscovick DS, Gudnason V, Jamshidi Y, Salomaa V, Felix SB, Sanna S, Ritchie MD, Stricker BH, Stefansson K, Boyer LA, Cappola TP, Olsen JV, Lage K, Schwartz PJ, Kaab S, Chakravarti A, Ackerman MJ, Pfeufer A, de Bakker PIW and Newton-Cheh C (2014) Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. Nat Genet 46(8), 826-836

Bruzelius M, Strawbridge RJ, Trégouët D-A, Wiggins KL, Gertow K, Sabater-Lleal M, Öhrvik J, Bergendal A, Silveira A, Sundström A, Kieler H, Syvänen A-C, Smith NL, Morange P-E, Odeberg J, Hamsten A (2014) Influence of coronary artery disease-associated genetic variants on risk of venous thromboembolism. Thromb Res 134(2), 426-432

Carlsson Almlöf J, Lundmark P, Lundmark A, Ge B, Pastinen T, Goodall AH, Cambien F, Deloukas P, Ouwehand WH, Syvänen A-C, Cardiogenics Consortium (2014) Single Nucleotide Polymorphisms with Cis-Regulatory Effects on Long Non-Coding Transcripts in Human Primary Monocytes. PLoS One9(7), e102612

Madrigal I, Alvarez-Mora MI, Karlberg O, Rodríguez-Revenga L, Elurbe DM, Rabionet R, Mur A, Pie J, Ballesta F, Sauer S, Syvänen A-C, Milà M (2014) Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes. J Clin Pathol 67(12), 1099-1103 

Prokopenko I, Poon W, Mägi R, Prasad B R, Salehi SA, Almgren P, Osmark P, Bouatia-Naji N, Wierup N, Fall T, Stančáková A, Barker A, Lagou V, Osmond C, Xie W, Lahti J, Jackson AU, Cheng Y-C, Liu J, O'Connell JR, Blomstedt PA, Fadista J, Alkayyali S, Dayeh T, Ahlqvist E, Taneera J, Lecoeur C, Kumar A, Hansson O, Hansson K, Voight BF, Kang HM, Levy-Marchal C, Vatin V, Palotie A, Syvänen A-C, Mari A, Weedon MN, Loos RJF, Ong KK, Nilsson P, Isomaa B, Tuomi T, Wareham NJ, Stumvoll M, Widen E, Lakka TA, Langenberg C, Tönjes A, Rauramaa R, Kuusisto J, Frayling TM, Froguel P, Walker M, Eriksson JG, Ling C, Kovacs P, Ingelsson E, McCarthy MI, Shuldiner AR, Silver KD, Laakso M, Groop L, Lyssenko V (2014) A Central Role for GRB10 in Regulation of Islet Function in Man. PLoS Genet 10(4), e1004235


Berglund E, Lindqvist CM, Hayat S, Övernäs E, Henriksson N, Nordlund J, Wahlberg P, Forestier E, Lönnerholm G, Syvänen A-C (2013) Accurate detection of subclonal single nucleotide variants in whole genome amplified and pooled cancer samples using HaloPlex target enrichment. BMC Genomics 14(1), 856

Bolin K, Sandling JK, Zickert A, Jönsen A, Sjöwall C, Svenungsson E, Bengtsson AA, Eloranta M-L, Rönnblom L, Syvänen A-C, Gunnarsson I, Nordmark G (2013) Association of STAT4 Polymorphism with Severe Renal Insufficiency in Lupus Nephritis. PLoS One 8(12), e84450

Deloukas P, Kanoni S, Willenborg C, Farrall M, Assimes TL, Thompson JR, Ingelsson E, Saleheen D, Erdmann J, Goldstein BA, Stirrups K, Konig IR, Cazier J-B, Johansson A, Hall AS, Lee J-Y, Willer CJ, Chambers JC, Esko T, Folkersen L, Goel A, Grundberg E, Havulinna AS, Ho WK, Hopewell JC, Eriksson N, Kleber ME, Kristiansson K, Lundmark P, Lyytikainen L-P, Rafelt S, Shungin D, Strawbridge RJ, Thorleifsson G, Tikkanen E, Van Zuydam N, Voight BF, Waite LL, Zhang W, Ziegler A, Absher D, Altshuler D, Balmforth AJ, Barroso I, Braund PS, Burgdorf C, Claudi-Boehm S, Cox D, Dimitriou M, Do R, Doney ASF, Mokhtari NE, Eriksson P, Fischer K, Fontanillas P, Franco-Cereceda A, Gigante B, Groop L, Gustafsson S, Hager J, Hallmans G, Han B-G, Hunt SE, Kang HM, Illig T, Kessler T, Knowles JW, Kolovou G, Kuusisto J, Langenberg C, Langford C, Leander K, Lokki M-L, Lundmark A, McCarthy MI, Meisinger C, Melander O, Mihailov E, Maouche S, Morris AD, Muller-Nurasyid M, Nikus K, Peden JF, Rayner NW, Rasheed A, Rosinger S, Rubin D, Rumpf MP, Schafer A, Sivananthan M, Song C, Stewart AFR, Tan S-T, Thorgeirsson G, Schoot CEvd, Wagner PJ, Wells GA, Wild PS, Yang T-P, Amouyel P, Arveiler D, Basart H, Boehnke M, Boerwinkle E, Brambilla P, Cambien F, Cupples AL, de Faire U, Dehghan A, Diemert P, Epstein SE, Evans A, Ferrario MM, Ferrieres J, Gauguier D, Go AS, Goodall AH, Gudnason V, Hazen SL, Holm H, Iribarren C, Jang Y, Kahonen M, Kee F, Kim H-S, Klopp N, Koenig W, Kratzer W, Kuulasmaa K, Laakso M, Laaksonen R, Lee J-Y, Lind L, Ouwehand WH, Parish S, Park JE, Pedersen NL, Peters A, Quertermous T, Rader DJ, Salomaa V, Schadt E, Shah SH, Sinisalo J, Stark K, Stefansson K, Tregouet D-A, Virtamo J, Wallentin L, Wareham N, Zimmermann ME, Nieminen MS, Hengstenberg C, Sandhu MS, Pastinen T, Syvänen A-C, Hovingh GK, Dedoussis G, Franks PW, Lehtimaki T, Metspalu A, Zalloua PA, Siegbahn A, Schreiber S, Ripatti S, Blankenberg SS, Perola M, Clarke R, Boehm BO, O'Donnell C, Reilly MP, Marz W, Collins R, Kathiresan S, Hamsten A, Kooner JS, Thorsteinsdottir U, Danesh J, Palmer CNA, Roberts R, Watkins H, Schunkert H and Samani NJ (2013) Large-scale association analysis identifies new risk loci for coronary artery disease. Nat Genet 45(1), 25-33

Lappalainen T, Sammeth M, Friedlander MR, t Hoen PAC, Monlong J, Rivas MA, Gonzalez-Porta M, Kurbatova N, Griebel T, Ferreira PG, Barann M, Wieland T, Greger L, van Iterson M, Almlöf J, Ribeca P, Pulyakhina I, Esser D, Giger T, Tikhonov A, Sultan M, Bertier G, MacArthur DG, Lek M, Lizano E, Buermans HPJ, Padioleau I, Schwarzmayr T, Karlberg O, Ongen H, Kilpinen H, Beltran S, Gut M, Kahlem K, Amstislavskiy V, Stegle O, Pirinen M, Montgomery SB, Donnelly P, McCarthy MI, Flicek P, Strom TM, The Geuvadis Consortium, Lehrach H, Schreiber S, Sudbrak R, Carracedo A, Antonarakis SE, Hasler R, Syvänen A-C, van Ommen G-J, Brazma A, Meitinger T, Rosenstiel P, Guigo R, Gut IG, Estivill X, Dermitzakis ET (2013) Transcriptome and genome sequencing uncovers functional variation in humans. Nature, 501(7468), 506-511

Leonard D, Svenungsson E, Sandling JK, Berggren O, Jönsen A, Bengtsson C, Wang C, Jensen-Urstad K, Granstam S-O, Bengtsson AA, Gustafsson JT, Gunnarsson I, Rantapää-Dahlqvist S, Nordmark G, Eloranta M-L, Syvänen A-C, Rönnblom L (2013) Coronary Heart Disease in Systemic Lupus Erythematosus Is Associated with Interferon Regulatory Factor 8 Gene Variants. Circ Cardiovasc Genet 6(3), 255-263

Lundström E, Gustafsson JT, Jönsen A, Leonard D, Zickert A, Elvin K, Sturfelt G, Nordmark G, Bengtsson AA, Sundin U, Källberg H, Sandling JK, Syvänen A-C, Klareskog L, Gunnarsson I, Rönnblom L, Padyukov L, Svenungsson E (2013)HLA-DRB1*04/*13 alleles are associated with vascular disease and antiphospholipid antibodies in systemic lupus erythematosus. Ann Rheum Dis 72(6), 1018-1025

Nordlund J, Bäcklin C, Wahlberg P, Busche S, Berglund E, Eloranta M-L, Flaegstad T, Forestier E, Frost B-M, Harila-Saari A, Heyman M, Jonsson O, Larsson R, Palle J, Rönnblom L, Schmiegelow K, Sinnett D, Söderhäll S, Pastinen T, Gustafsson M, Lönnerholm G, Syvänen A-C (2013) Genome-wide signatures of differential DNA methylation in pediatric acute lymphoblastic leukemia. Genome Biol14(9), r105

Nordmark G, Wang C, Vasaitis L, Eriksson P, Theander E, Kvarnström M, Forsblad-d'Elia H, Jazebi H, Sjöwall C, Reksten TR, Brun JG, Jonsson MV, Johnsen SJ, Wahren-Herlenius M, Omdal R, Jonsson R, Bowman S, Ng W-F, UK Primary Sjögren's Syndrome Registry, Eloranta M-L, Syvänen A-C (2013) Association of genes in the NF-κB pathway with antibody positive primary Sjögren's syndrome. Scand J Immunol 78(5), 447-454

t Hoen PAC, Friedlander MR, Almlöf J, Sammeth M, Pulyakhina I, Anvar SY, Laros JFJ, Buermans HPJ, Karlberg O, Brännvall M, The Geuvadis Consortium, den Dunnen JT, van Ommen G-JB, Gut IG, Guigo R, Estivill X, Syvänen A-C, Dermitzakis ET, Lappalainen T (2013) Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories. Nat Biotech 31(11), 1015-1022

Wang C, Ahlford A, Laxman N, Nordmark G, Eloranta ML, Gunnarsson I, Svenungsson E, Padyukov L, Sturfelt G, Jonsen A, Bengtsson AA, Truedsson L, Rantapaa-Dahlqvist S, Sjöwall C, Sandling JK, Rönnblom L, Syvänen AC (2013)Contribution of IKBKE and IFIH1 gene variants to SLE susceptibility.Genes Immun 14(4), 217-222

Wang C, Sandling JK, Hagberg N, Berggren O, Sigurdsson S, Karlberg O, Rönnblom L, Eloranta ML, Syvänen AC (2013) Genome-wide profiling of target genes for the systemic lupus erythematosus-associated transcription factors IRF5 and STAT4. Ann Rheum Dis, 72(1), 96-103.

Wang C, Ahlford A, Jarvinen TM, Nordmark G, Eloranta M-L, Gunnarsson I, Svenungsson E, Padyukov L, Sturfelt G, Jonsen A, Bengtsson AA, Truedsson L, Eriksson C, Rantapaa-Dahlqvist S, Sjowall C, Julkunen H, Criswell LA, Graham RR, Behrens TW, Kere J, Ronnblom L, Syvänen A-C, Sandling JK (2013) Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations. Eur J Hum Genet 21(9), 994-999


Almlöf JC, Lundmark P, Lundmark A, Ge B, Maouche S, Göring HHH, Liljedahl U, Enström C, Brocheton J, Proust C, Godefroy T, Sambrook JG, Jolley J, Crisp-Hihn A, Foad N, Lloyd-Jones H, Stephens J, Gwilliam R, Rice CM, Hengstenberg C, Samani NJ, Erdmann J, Schunkert H, Pastinen T, Deloukas P, Goodall AH, Ouwehand WH, Cambien F, Syvänen A-C (2012) Powerful Identification of Cis-regulatory SNPs in Human Primary Monocytes Using Allele-Specific Gene Expression. PLoS One 7(12), e52260

Bolstad AI, Le Hellard S, Kristjansdottir G, Vasaitis L, Kvarnström M, Sjöwall C, Johnsen SJA, Eriksson P, Omdal R, Brun JG, Wahren-Herlenius M, Theander E, Syvänen A-C, Rönnblom L, Nordmark G, Jonsson R (2012) Association between genetic variants in the tumour necrosis factor/lymphotoxin α/lymphotoxin β locus and primary Sjögren's syndrome in Scandinavian samples. Ann Rheum Dis 71(6), 981-988

Nordlund J, Kiialainen A, Karlberg O, Berglund EC, Göransson-Kultima H, Sønderkær M, Nielsen KL, Gustafsson MG, Behrendtz M, Forestier E, Perkkiö M, Söderhäll S, Lönnerholm G, Syvänen A-C (2012) Digital gene expression profiling of primary acute lymphoblastic leukemia cells. Leukemia 26(6), 1218-1227

Nordlund J, Milani L, Lundmark A, Lönnerholm G, Syvänen AC (2012) DNA Methylation Analysis of Bone Marrow Cells at Diagnosis of Acute Lymphoblastic Leukemia and at RemissionPLoS ONE 7(4): e34513

Surakka I, Whitfield JB, Perola M, Visscher PM, Montgomery GW, Falchi M, Willemsen G, de Geus EJC, Magnusson PKE, Christensen K, Sørensen TIA, Pietiläinen KH, Rantanen T, Silander K, Widén E, Muilu J, Rahman I, Liljedahl U, Syvänen A-C, Palotie A, Kaprio J, Kyvik KO, Pedersen NL, Boomsma DI, Spector T, Martin NG, Ripatti S, Peltonen L (2012) A Genome-Wide Association Study of Monozygotic Twin-Pairs Suggests a Locus Related to Variability of Serum High-Density Lipoprotein Cholesterol. Twin Res Hum Genet 15(6), 691-699

Wang C, Rose-Zerilli MJ, Koppelman GH, Sandling JK, Holloway JW, Postma DS, Holgate ST, Bours V, Syvänen A-C, Dideberg V (2012) Evidence of association between interferon regulatory factor 5 gene polymorphisms and asthma.Gene, 504(2), 220-225


Cunninghame Graham DS, Morris DL, Bhangale TR, Criswell LA, Syvänen A-C, Rönnblom L, Behrens TW, Graham RR,  Vyse TJ (2011) Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with Systemic Lupus Erythematosus. PLoS Genet 7(10): e1002341

Kiialainen A, Karlberg O, Ahlford A, Sigurdsson S, Lindblad-Toh K, & Syvänen A-C. (2011). Performance of microarray and liquid based capture methods for target enrichment for massively parallel sequencing and SNP discovery. PLoS ONE, 6(2), e16486

Nitsch D, Sandling JK, Byberg L, Larsson A, Tuvemo T, Syvänen A-C, Koupil I, Leon DA. (2011). Fetal, developmental, and parental influences on cystatin C in childhood: the Uppsala Family Study. Am J Kidney Dis. 57(6), 863-872.

Nordmark G, Kristjansdottir G, Theander E, Appel S, Eriksson P, Vasaitis L, Kvarnström M, Delaleu N, Lundmark P,  Lundmark A, Sjöwall C, Brun JG, Jonsson MV, Harboe E, Gøransson LG, Johnsen SJ, Söderkvist P, Eloranta ML, Alm G, Baecklund E, Wahren-Herlenius M, Omdal R, Rönnblom L, Jonsson R, Syvänen A-C (2011). Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome. Genes Immun. 12(2), 100-109.

Sandling JK, Garnier S, Sigurdsson S, Wang C, Nordmark G, Gunnarsson I, Svenungsson E, Padyukov L, Sturfelt G, Jönsen A, Bengtsson AA, Truedsson L, Eriksson C, Rantapää-Dahlqvist S, Mälarstig A, Strawbridge RJ, Hamsten A, Criswell LA, Graham RR, Behrens TW, Eloranta ML, Alm G, Rönnblom L & Syvänen A-C (2011). A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE. Eur J Hum Genet, 19, 479–484

Sovio U, Mook-Kanamori DO, Warrington NM, Lawrence R, Briollais L, Palmer CN, Cecil J, Sandling JK, Syvänen A-C, Kaakinen M, Beilin LJ, Millwood IY, Bennett AJ, Laitinen J, Pouta A, Molitor J, Davey Smith G, Ben-Shlomo Y, Jaddoe VW, Palmer LJ, Pennell CE, Cole TJ, McCarthy MI, Järvelin MR, Timpson NJ, Early Growth Genetics Consortium. (2011). 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. PLoS Genet.7(2):e1001307.

Wang C, Kokkonen H, Sandling JK, Johansson M, Seddighzadeh M, Padyukov L, Rantapää-Dahlqvist S, Syvänen A-C. (2011) Preferential Association of Interferon Regulatory Factor 5 Gene Variants with Seronegative Rheumatoid Arthritis in 2 Swedish Case-Control StudiesJ Rheumatol, 38(10):2130-2132


Ahlford A, Kjeldsen B, Reimers J, Lundmark A, Romani M, Wolff A, Syvänen AC, & Brivio M. (2010) Dried reagents for multiplex genotyping by tag-array minisequencing to be used in microfluidic devices. Analyst, 135(9), 2377-2385 

Feng D, Stone RC, Eloranta ML, Sangster-Guity N, Nordmark G, Sigurdsson S, Wang C, Alm G, Syvänen AC, Rönnblom L, & Barnes BJ. (2010) Genetic variants and disease-associated factors contribute to enhanced interferon regulatory factor 5 expression in blood cells of patients with systemic lupus erythematosus. Arthritis Rheum, 62(2), 562-573

Folkersen L, van't Hooft F, Chernogubova E, Agardh HE, Hansson GK, Hedin U, Liska J, Syvänen AC, Paulssson-Berne G, Franco-Cereceda A, Hamsten A, Gabrielsen A, Eriksson P; BiKE and ASAP study groups (2010) Association of genetic risk variants with expression of proximal genes identifies novel susceptibility genes for cardiovascular disease. Circ Cardiovasc Genet, 3:365-373

Heid IM, et al. (2010). Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet, 42(11), 949-960

Hellquist A, Sandling JK, Zucchelli M, Koskenmies S, Julkunen H, D'Amato M, Garnier S, Syvänen AC, & Kere J. (2010). Variation in STAT4 is associated with systemic lupus erythematosus in a Finnish family cohort. Ann Rheum Dis. 69(5), 883-886

Ingelsson E, Langenberg C, Hivert MF, Prokopenko I, Lyssenko V, Dupuis J, Mägi R, Sharp S, Jackson AU, Assimes TL, Shrader P, Knowles JW, Zethelius B, Abbasi FA, Bergman RN, Bergmann A, Berne C, Boehnke M, Bonnycastle LL, Bornstein SR, Buchanan TA, Bumpstead SJ, Böttcher Y, Chines P, Collins FS, Cooper CC, Dennison EM, Erdos MR, Ferrannini E, Fox CS, Graessler J, Hao K, Isomaa B, Jameson KA, Kovacs P, Kuusisto J, Laakso M, Ladenvall C, Mohlke KL, Morken MA, Narisu N, Nathan DM, Pascoe L, Payne F, Petrie JR, Sayer AA, Schwarz PE, Scott LJ, Stringham HM, Stumvoll M, Swift AJ, Syvänen AC, Tuomi T, Tuomilehto J, Tönjes A, Valle TT, Williams GH, Lind L, Barroso I, Quertermous T, Walker M, Wareham NJ, Meigs JB, McCarthy MI, Groop L, Watanabe RM, Florez JC; MAGIC investigators. (2010) Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans. Diabetes, 59(5), 1266-1275

Milani L, Lundmark A, Kiialainen A, Nordlund J, Flaegstad T, Forestier E, Heyman M, Jonmundsson G, Kanerva J, Schmiegelow K, Söderhäll S, Gustafsson MG, Lönnerholm G, Syvänen AC. (2010). DNA methylation for subtype classification and prediction of treatment outcome in patients with childhood acute lymphoblastic leukemia. Blood, 115(6), 1214-1225

Saxena R, Hivert MF, Langenberg C, Tanaka T, Pankow JS, Vollenweider P, Lyssenko V, Bouatia-Naji N, Dupuis J, Jackson AU, Kao WH, Li M, Glazer NL, Manning AK, Luan J, Stringham HM, Prokopenko I, Johnson T, Grarup N, Boesgaard TW, Lecoeur C, Shrader P, O'Connell J, Ingelsson E, Couper DJ, Rice K, Song K, Andreasen CH, Dina C, Kottgen A, Le Bacquer O, Pattou F, Taneera J, Steinthorsdottir V, Rybin D, Ardlie K, Sampson M, Qi L, van Hoek M, Weedon MN, Aulchenko YS, Voight BF, Grallert H, Balkau B, Bergman RN, Bielinski SJ, Bonnefond A, Bonnycastle LL, Borch-Johnsen K, Bottcher Y, Brunner E, Buchanan TA, Bumpstead SJ, Cavalcanti-Proenca C, Charpentier G, Chen YD, Chines PS, Collins FS, Cornelis M, G JC, Delplanque J, Doney A, Egan JM, Erdos MR, Firmann M, Forouhi NG, Fox CS, Goodarzi MO, Graessler J, Hingorani A, Isomaa B, Jorgensen T, Kivimaki M, Kovacs P, Krohn K, Kumari M, Lauritzen T, Levy-Marchal C, Mayor V, McAteer JB, Meyre D, Mitchell BD, Mohlke KL, Morken MA, Narisu N, Palmer CN, Pakyz R, Pascoe L, Payne F, Pearson D, Rathmann W, Sandbaek A, Sayer AA, Scott LJ, Sharp SJ, Sijbrands E, Singleton A, Siscovick DS, Smith NL, Sparso T, Swift AJ, Syddall H, Thorleifsson G, Tonjes A, Tuomi T, Tuomilehto J, Valle TT, Waeber G, Walley A, Waterworth DM, Zeggini E, Zhao JH, Illig T, Wichmann HE, Wilson JF, van Duijn C, Hu FB, Morris AD, Frayling TM, Hattersley AT, Thorsteinsdottir U, Stefansson K, Nilsson P, Syvänen AC, Shuldiner AR, Walker M, Bornstein SR, Schwarz P, Williams GH, Nathan DM, Kuusisto J, Laakso M, Cooper C, Marmot M, Ferrucci L, Mooser V, Stumvoll M, Loos RJ, Altshuler D, Psaty BM, Rotter JI, Boerwinkle E, Hansen T, Pedersen O, Florez JC, McCarthy MI, Boehnke M, Barroso I, Sladek R, Froguel P, Meigs JB, Groop L, Wareham NJ and Watanabe RM, et al. (2010). Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet, 42(2), 142-148

Svenungsson E, Gustafsson J, Leonard D, Sandling J, Gunnarsson I, Nordmark G, Jönsen A, Bengtsson AA, Sturfelt G, Rantapää-Dahlqvist S, Elvin K, Sundin U, Garnier S, Simard JF, Sigurdsson S, Padyukov L, Syvänen AC, & Rönnblom L. (2010). A STAT4 risk allele is associated with ischemic cerebrovascular events and antiphospholipid antibodies in Systemic Lupus Erythematosus. Ann Rheum Dis, 69(5), 834-840

Uronen RL, Lundmark P, Orho-Melander M, Jauhiainen M, Larsson K, Siegbahn A, Wallentin L, Zethelius B, Melander O, Syvänen AC, & Ikonen E. (2010) Niemann-Pick C1 modulates hepatic triglyceride metabolism and its genetic variation contributes to serum triglyceride levels. Arterioscler Thromb Vasc Biol, 30(8), 1614-1620


Gateva V, Sandling JK, Hom G, Taylor KE, Chung SA, Sun X, Ortmann W, Kosoy R, Ferreira RC, Nordmark G, Gunnarsson I, Svenungsson E, Padyukov L, Sturfelt G, Jönsen A, Bengtsson AA, Rantapää-Dahlqvist S, Baechler EC, Brown EE, Alarcon GS, Edberg JC, Ramsey-Goldman R, McGwin G, Jr., Reveille JD, Vila LM, Kimberly RP, Manzi S, Petri MA, Lee A, Gregersen PK, Seldin MF, Rönnblom L, Criswell LA, Syvänen AC, Behrens TW, & Graham RR. (2009). A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nat Genet, 41(11), 1228-1233

Ghotbi R, Gomez A, Milani L, Tybring G, Syvänen AC, Bertilsson L, Ingelman-Sundberg M, & Aklillu E. (2009). Allele-specific expression and gene methylation in the control of CYP1A2 mRNA level in human livers. Pharmacogenomics J, 9(3), 208-217

Li JB, Gao Y, Aach J, Zhang K, Kryukov GV, Xie B, Ahlford A, Yoon JK, Rosenbaum AM, Zaranek AW, Leproust E, Sunyaev SR, & Church GM. (2009) Multiplex padlock targeted sequencing reveal human hypermutable CpG variations. Genome Res, 19(9):1606-15

Milani L, Lundmark A, Nordlund J, Kiialainen A, Flaegstad T, Jonmundsson G, Kanerva J, Schmiegelow K, Gunderson KL, Lönnerholm G, & Syvänen AC. (2009) Allele-specific gene expression patterns in primary leukemic cells reveal regulation of gene expression by CpG site methylation. Genome Res, 19(1), 1-11

Nordmark G, Kristjansdottir G, Theander E, Eriksson P, Brun JG, Wang C, Padyukov L, Truedsson L, Alm G, Eloranta ML, Jonsson R, Rönnblom L, & Syvänen AC. (2009). Additive effects of the major risk alleles of IRF5 and STAT4 in primary Sjögren's syndrome. Genes Immun, 10(1), 68-76

Rönn, AC, Andrés, O, López-Giráldez, F, Johnsson-Glans, C, Verschoor, E J, Domingo-Roura, X, Bruford, MW, Syvänen, AC, & Bosch, M. (2009). First generation microarray-system for identification of primate species subject to bushmeat trade. Endang Species Res. Vol. 9: 133–142

Wade CM, Giulotto E, Sigurdsson S, Zoli M, Gnerre S, Imsland F, et al. including Kiialainen A and Syvänen AC. (2009). Genome sequence, comparative analysis, and population genetics of the domestic horse. Science, 326(5954):865-867


Schnorrer F, Ahlford A, Chen D, Milani L, & Syvänen AC. (2008). Positional cloning by fast-track SNP-mapping in Drosophila melanogaster. Nat Protoc, 3(11), 1751-1765

Sigurdsson S, Nordmark G, Garnier S, Grundberg E, Kwan T, Nilsson O, Eloranta ML, Gunnarsson I, Svenungsson E, Sturfelt G, Bengtsson AA, Jonsen A, Truedsson L, Rantapää-Dahlqvist S, Eriksson C, Alm G, Göring HH, Pastinen T, Syvänen A-C, & Rönnblom L. (2008). 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. Hum Mol Genet, 17(18), 2868-2876

Gunnarsson R, Staaf J, Jansson M, Ottesen AM, Göransson H, Liljedahl U, Ralfkiær U, Mansouri M, Buhl AM, Ekström Smedby K, Hjalgrim H, Syvänen A-C, Borg Å, Isaksson A, Jurlander J, Juliusson G, Rosequist R. (2008). Screening for copy-number alterations and loss of heterozygosity in chronic lymphocytic leukemia - A comparative study of four differently designed, high resolution microarray platforms. Genes Chromosomes Cancer, 47(8), 697-711

Heath SC, Gut IG, Brennan P, McKay JD, Bencko V, Fabianova E, Foretova L, Georges M, Janout V, Kabesch M, Krokan HE, Elvestad MB, Lissowska J, Mates D, Rudnai P, Skorpen F, Schreiber S, Soria JM, Syvänen AC, Meneton P, Hercberg S, Galan P, Szeszenia-Dabrowska N, Zaridze D, Genin E, Cardon LR, & Lathrop M. (2008). Investigation of the fine structure of European populations with applications to disease association studies. Eur J Hum Genet, 16(12), 1413-1429

Kurland L, Hallberg P, Melhus H, Liljedahl U, Hashemi N, Syvanen AC, Lind L, Kahan T (2008) 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. Am J Hypertens 21(7), 836-839

Nordgard SH, Johansen FE, Alnæs GIG, Bucher E, Syvänen A-C, Naume B, Børresen-Dale A-L, Kristensen VN (2008) Genome-wide analysis identifies 16q deletion associated with survival, molecular subtypes, mRNA expression, and germline haplotypes in breast cancer patients. Genes Chromosomes Cancer, 47(8), 680-696

Andrés O, Rönn A-C, Bonhomme M, Kellermann T, Crouau-Roy B, Doxiadis G, Verschoor E, Goossens B, Domingo-Roura X, Bruford M, Bosch M, Syvänen A-C (2008) A microarray system for Y chromosomal and mitochondrial single nucleotide polymorphism analysis in chimpanzee populations. Molecular Ecology Resources, 8:529-539

Lundmark P, Liljedahl U, Boomsma D, Mannila H, Martin NG, Palotie A, Peltonen L, Perola M, Spector T, Syvänen A-C. (2008). Evaluation of HapMap data in six populations of European descent. Eur J Hum Genet, 16(9), 1142-1150

Dahlgren A, Lundmark P, Axelsson T, Lind L, & Syvänen A-C. (2008).Association of the Estrogen Receptor 1 (ESR1) Gene with Body Height in Adult Males from Two Swedish Population Cohorts. PLoS ONE, 3(3), e1807

Mälarstig A, Sigurdsson S, Eriksson P, Paulsson-Berne G, Hedin U, Wallentin L, Siegbahn A, Hamsten A, & Syvänen A-C. (2008). Variants of the Interferon Regulatory Factor 5 Gene Regulate Expression of IRF5 mRNA in Atherosclerotic Tissue but Are Not Associated With Myocardial Infarction. Arterioscler Thromb Vasc Biol, 28(5):975-82

Kristjansdottir G, Sandling JK, Bonetti A, Roos IM, Milani L, Wang C, Gustafsdottir SM, Sigurdsson S, Lundmark A, Tienari PJ, Koivisto K, Elovaara I, Pirttilä T, Reunanen M, Peltonen L, Saarela J, Hillert H, Olsson T, Landegren U, Alcina A, Fernández O, Leyva L, Guerrero M, Lucas M, Izquierdo G, Matesanz F, Syvänen A-C. (2008) Interferon Regulatory Factor 5 (IRF5) Gene Variants are Associated with Multiple Sclerosis in Three Distinct Populations. J Med Genet, 45: 362-369

Chen D, Ahlford A, Schnorrer F, Kalchhauser I, Fellner M, Viragh E, Kiss I, Syvänen A-C, & Dickson BJ. (2008). High-resolution, high-throughput SNP mapping in Drosophila melanogaster. Nat Methods, 5(4):323-329

Hom G, Graham R, Modrek B, Taylor K, Ortmann W, Garnier S, Lee A, Chung S, Ferreira R, Pant K, Ballinger D, Kosoy R, Demirci Y, Kamboh I, Kao A, Tian C, Gunnarsson I, Bengtsson A, Rantapää-Dahlqvist S, Petri M, Manzi S, Seldin M, Rönnblom L, Syvänen A-C, Criswell L, Gregersen P, Behrens T. (2008) Association of Systemic Lupus Erythematosus with C8orf13–BLK and ITGAM–ITGAX. N Engl J Med, 358(9):900-909

Gupta M, Milani L, Hermansson M, Simonsson B, Markevarn B, Syvänen AC, Barbany G. (2008) Expression of BCR-ABL1 oncogene relative to ABL1 gene changes overtime in chronic myeloid leukemia. Biochem Biophys Res Commun, 366:848-851

Sigurdsson S, Göring HH, Kristjansdottir G, Milani L, Nordmark G, Sandling JK, Eloranta ML, Feng D, Sangster-Guity N, Gunnarsson I, Svenungsson E, Sturfelt G, Jonsen A, Truedsson L, Barnes BJ, Alm G, Rönnblom L, & Syvänen A-C. (2008).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. Hum Mol Genet, 17(6), 872-881

Auro K, Kristiansson K, Zethelius B, Berne C, Lannfelt L, Taskinen M-R, Jauhiainen M, Perola M, Peltonen L, Syvänen A-C. (2008) USF1 gene variants contribute to metabolic traits in men in a longitudinal 32-year follow-up study. Diabetologia, 51(3), 464-472

Wedren S, Lovmar L, Humphreys K, Magnusson C, Melhus H, Syvanen AC, Kindmark A, Landegren U, Fermer ML, Stiger F, Persson I, Baron JA, Weiderpass E (2008) Estrogen receptor alpha gene polymorphism and endometrial cancer risk--a case-control study. BMC Cancer 8(322)


Dideberg V, Kristjansdottir G, Milani L, Libioulle C, Sigurdsson S, Louis E, Wiman AC, Vermeire S, Rutgeerts P, Belaiche J, Franchimont D, Van Gossum A, Bours V, & Syvänen A-C. (2007). An insertion-deletion polymorphism in the Interferon Regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases. Hum Mol Genet, 16(24), 3008-3016

Dahlgren A, Zethelius B, Jensevik K, Syvänen A-C, Berne C (2007) Variants of the TCF7L2 gene are associated with beta cell dysfunction and confer risk of type 2 diabetes mellitus in the ULSAM cohort of Swedish elderly men. Diabetologia 50:1852-1857

Sigurdsson S, Padyukov L,Kurreeman FAS, Liljedahl U, Wiman AC, Alfredsson L, Toes R, Rönnelid J, Klareskog L, Huizinga TWJ, Alm G, Syvänen AC and Rönnblom L (2007). Association of a Haplotype in the Promoter Region of the Interferon Regulatory Factor 5 Gene with Rheumatoid Arthritis. Arthritis & Rheumatism 56(7):2202-2210

Graham RR, Kyogoku C, Sigurdsson S, Vlasova IA, Davies LR, Baechler EC, Plenge RM, Koeuth T, Ortmann WA, Hom G, Bauer JW, Gillett C, Burtt N, Graham DS, Onofrio R, Petri M, Gunnarsson I, Svenungsson E, Rönnblom L, Nordmark G, Gregersen PK, Moser K, Gaffney PM, Criswell LA, Vyse TJ, Syvänen AC, Bohjanen PR, Daly MJ, Behrens TW, and Altshuler D (2007). Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc Natl Acad Sci 104(16):6758-6763

Milani L, Gupta M, Andersen M, Dhar S, Fryknäs M, Isaksson A, Larsson R, Syvänen A-C (2007). Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells. Nucleic Acids Res, 35(5), e34


Andrés O, Rönn A-C, Ferrando A, Bosch M, Domingo-Roura X (2006) Sequence quality is maintained after multiple displacement amplification of non-invasively obtained macaque semen DNA. Biotechnology Journal 1:466-469

Edvardsen H, Alnaes GIG, Tsalenk A, Mulcahy T, Yurey A, Lindersson M, Lien S, Omholt S, Syvänen A-C, Börresen-Dale A-L, Kristenssen VN. (2006) Experimental validation of data-mined SNPs from several databases and consecutive dbSNP builds. Pharmacogenet Genomics 16:207-217

Kristensen VN, Edvardsen H, Tsalenko A, Nordgard S, Sørlie T, Sharan R, Vailaya A, , Ben-Dor A Lønning P.E, Lien S, Omholt S, Syvänen A-C, Yakhini Z and Børresen-Dale A-L. (2006) Genetic variation in putative regulatory loci controlling gene expression in breast cancer. Proc Natl Acad Sci 103:7735-40

Lahermo P, Liljedahl U, Alnaes G, Axelsson T, Brookes A, Ellonen P, Groop P-E, Halldén C, Holmberg D, Holmberg K, Keinänen M, Kepp K, Kere J, Kiviluoma P, Kristensen V, Lindgren C, Odeberg J, Osterman P, Parkkonen M, Saarela J, Sterner M, Strömqvist L, Talas U, Wessman M, Palotie A, Syvänen A-C (2006) A Quality Assessment Survey of SNP Genotyping Laboratories. Hum Mutat, 27(7):711-714

Li J-G, Liljedahl U. and Heng C-K. (2006) Tag/anti-tag liquid-phase primer extension array: A flexible and versatile genotyping platform. Genomics, 87:151-157

Milani L, Fredriksson M, Syvänen A-C. (2006) Detection of alternatively spliced transcripts in leukaemia cell lines by minisequencing on microarrays. Clin Chem 52:202-211

Rönn A-C, Andrés, O, Bruford MW, Crouau-Roy B, Doxiadis G, Domingo-Roura X, Roeder AD,Verschoor E, Zischler H, Syvänen A-C (2006) Multiple displacement amplification for generating an unlimited source of DNA for genotyping in non-human primate species. Int J Primatology 26: 1145-1169

Sigurdsson S, Hedman M, Sistonen P, Sajantila A, Syvänen A-C. (2006) A microarray system for genotyping 150 single nucleotide polymorphisms in the coding region of human mitochondrial DNA. Genomics, 87:534-542


Borge T, Lindroos K, Nadvornik P, Syvänen A-C, Saetre G-P (2005) Amount of introgression in flycatcher hybrid zones reflects regional difference in pre- and postzygotic barriers to gene exchange. J Evol Biol, 18:1416-1424

Mälarstig A, Tenno T, Johnston N, Lagerqvist B, Axelsson T, Syvänen A-C, Wallentin L, Siegbahn A (2005) Genetic variations in the tissue factor gene are associated with clinical outcome in acute coronary syndrome and expression levels in human monocytes. Arterioscler Thromb Vasc Biol, 25:2667-72

Lennmyr F, Terent A, Syvänen A-C, Barbany G (2005) Vascular endothelial growth factor gene expression in middle cerebral artery occlusion in the rat. Acta Anaesthesiol Scand.49:488-493

Lovmar L, Ahlford A, Jonsson M, Syvänen A-C (2005) Silhouette scores for assessment of SNP genotype clusters. BMC Genomics 6:35

Sigurdsson S, Nordmark G, Goring HH, Lindroos K, Wiman AC, Sturfelt G, Jonsen A, Rantapaa-Dahlqvist S, Moller B, Kere J, Koskenmies S, Widen E, Eloranta ML, Julkunen H, Kristjansdottir H, Steinsson K, Alm G, Ronnblom L, Syvänen A-C (2005) Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosusAm J Hum Genet, 76:528-537 

Weedon MN, Frayling, TM, Shields B, Knight B, Turner T, Metcalf BS, Voss L, Wilkin TJ, McCarthy A, Ben-Shlomo Y, Davey Smith G, Ring S, Jones R, Golding J, Byberg L, Mann V, Axelsson T, Syvänen AC, Leon D, Hattersley AT (2005) Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene. Diabetes, 54:576-581

Leon, DA, Koupil I, Mann V, Tuvemo T, Lindmark G, Mohsen R, Byberg L, Lithell H (2005). Fetal, developmental, and parental influences on childhood systolic blood pressure in 600 sib pairs: the Uppsala Family study. Circulation 112, 3478-3485.


Liljedahl U, Kahan T, Malmqvist K, Melhus H, Syvänen A-C, Lind L, Kurland L. (2004) Single nucleotide polymorphisms predict the change in left ventricular mass in response to antihypertensive treatment. J Hypertens 22:2321-8

Hallberg P, Karlsson J, Lind L, Michaelsson K, Kurland L, Kahan T, Malmqvist K, Ohman KP, Nystrom F, Liljedahl U, Syvänen A-C, Melhus H. (2004) 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). Clin Cardiol 2004, 27:287-90

Liljedahl U, Fredriksson M, Dahlgren A, Syvänen A-C. (2004) Detecting imbalanced expression of SNP alleles by minisequencing on microarrays. BMC Biotechnol 2004, 4:24

Liljedahl U, Lind L, Kurland L, Berglund L, Kahan T, Syvänen A-C. (2004) Single nucleotide polymorphisms in the apolipoprotein B and low density lipoprotein receptor genes affect response to antihypertensive treatment. BMC Cardiovasc Disord 2004, 4:16

Sara Wedrén, Lovisa Lovmar, Keith Humphreys, Cecilia Magnusson, Håkan Melhus, Ann-Christine Syvänen, Andreas Kindmark, Ulf Landegren, Maria Lagerström Fermér, Fredrik Stiger, Ingemar Persson, John Baron, Elisabete Weiderpass. (2004) Oestrogen receptor α gene haplotype and postmenopausal breast cancer risk: a case control study. Breast Cancer Res 2004 6:R437-R449

Hallberg P, Lind L, Billberger K, Michaelsson K, Karlsson J, Kurland L, Kahan T, Malmqvist K, Ohman KP, Nystrom F, Liljedahl U, Syvänen A-C, Melhus H. (2004) Transforming growth factor beta1 genotype and change in left ventricular mass during antihypertensive treatment--results from the Swedish Irbesartan Left Ventricular Hypertrophy Investigation versus Atenolol (SILVHIA). Clin Cardiol 2004, 27:169-173

Fredriksson M, Barbany B, Liljedahl U, Hermansson M, Kataja M, Syvänen A-C. (2004) Assessing hematopoietic chimerism after allogeneic stem cell transplantation by multiplexed SNP genotyping using microarrays and quantitative analysis of SNP alleles. Leukemia 2004 18: 255-266

Kurland L, Liljedahl U, Karlsson J, Kahan T, Malmqvist K, Melhus H, Syvänen A-C and Lind L. (2004) Angiotensinogen gene polymorphisms: Relationship to blood pressure response to antihypertensive treatment. Am J Hypertens. 2004 17:8-13


Hallberg P, Lind L, Michaelsson K, Kurland L, Kahan T, Malmqvist K, Ohman KP, Nystrom F, Liljedahl U, Syvänen A-C, Melhus H. (2003) Adipocyte-derived leucine aminopeptidase genotype and response to antihypertensive therapy. BMC Cardiovasc Disord 2003, 3:11

Lovmar L, Fredriksson M, Liljedahl U, Sigurdsson S, Syvänen A-C. (2003) Quantitative evaluation by minisequencing and microarrays reveals accurate multiplexed SNP genotyping of whole genome amplified DNA. Nucleic Acids Res. 2003, 31:e129

Lovmar L, Fock C, Espinoza F, Bucardo F, Syvänen A-C, Bondeson K. (2003)Microarrays for genotyping of human group A rotavirus by multiplex capture and type specific primer extension. J Clin Microbiol. 2003, 41:5153-5158.

Blom TS, Linder MD, Snow K, Pihko H, Hess MW, Jokitalo E, Veckman V, Syvänen A-C, Ikonen E. (2003) Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease. Hum Mol Genet. 2003, 12, 257-72

Sætre G-P, Borge T, Lindroos K, Haavie J, Sheldon B C , Primmer C, Syvänen A-C. (2003) Sex chromosome evolution and speciation in Ficedula Flycatchers. Proc. R. Soc. Lond. B, 270:53–59

Liljedahl U, Karlsoon J, Melhus H, Kurland L, Lindersson M, Kahan T, Nyström F, Lind L, Syvänen AC. (2003) A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response. Pharmacogenetics 2003 13:7-17


Lindroos K, Sigurdsson S, Johansson K, Ronnblom L, Syvänen AC. (2002)Multiplex SNP genotyping in pooled DNA samples by a four-colour microarray system. Nucleic Acids Res. 2002 30:e70

Lagerstrom-Fermer M, Larhammar D, Johnsen E, Landegren U. Comparative genomics by capture PCR. (2002) Genomics 2002 79:432-436 

Pielberg G, Olsson C, Syvänen A-C and Andersson L. (2002) Unexpectedly High Allelic Diversity at the KIT Locus Causing Dominant White Color in the Domestic Pig. Genetics 2002 160:305-311


Lagerström-Fermér M, Olsson L, Forsgren L, Syvänen A-C. (2001) Heteroplasmy of the human mtDNA Control region remains constant during life. Am J Hum Genet. 2001 68:1299-301

Olsson C, Johnsen E, Nilsson M, Wilander E, Syvänen AC, Lagerstrom-Fermer M. (2001) The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness. Eur J Hum Genet. 2001 9:917-21

Pastinen T, Perola M, Ignatius J, Sabatti C, Tainola P, Levander M, Syvänen A-C and Peltonen L. (2001) Dissecting a population genome for targeted screening of disease mutations. Hum Mol Genet. 2001 10:2961-72

Lindroos K, Liljedahl U, Raitio M, Syvänen A-C. (2001) Minisequencing on oligonucleotide microarrays: Comparison of immobilization chemistries.Nucleic Acids Res. 2001 29:e69

Raitio M, Lindroos K., Laukkanen M, Pastinen T, Sajantila A, Syvänen A-C. (2001)Y-chromosomal SNPs in Finno-Ugric speaking populations analyzed by minisequencing on micorarrays. Genome Research 2001 11:471-482

Balciuniene J, Syvänen A-C, McLeod HL, Pettersson U, Jazin EE. (2001) The geographic distribution of monoamine oxidase haplotypes supports a bottleneck during the dispersion of modern humans from Africa. J Mol Evol. 2001 52:157-63


Olsson C, Waldenström E, Westermark K, Landegren U, Syvänen A-C. (2000)Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples. Eur. J. Hum. Genet. 2000 8:933-938 

Barbany G., Hagberg A., Strömberg-Olsson U., Simonson B., Syvänen A-C, and Landegren U. (2000) Manifold-assisted reverse transcription PCR with real time detection for measurement of the bcr-abl fusion transcript in chronic myeloid leukemia. Clin. Chem. 2000 46:913-920

Täpp I, Malmberg L, Rennel E, Wik M, Syvänen A-C. (2000) Homogeneous scoring of single nuclceotide polymorphism markers : The 5'-nuclease "TaqMan" assay versus Molecular Beacon probes. BioTechniques 2000 28:732-738

Pastinen T, Raitio M, Lindroos K, Tainola p, Peltonen L, Syvänen A-C. (2000) A system for specific, high-throughput genotyping by allele-specific primer exrtension on micorarrays. Genome Research 2000 10:1031-1042

Review articles (prior to 2020)

Nordlund J, Syvänen AC. Epigenetics in pediatric acute lymphoblastic leukemia. Semin Cancer Biol. 51:129-138, 2018

Berglund E, Kiialainen A, Syvänen A-C. Next generation sequencing technologies and applications for human Genetic History and Forensics.Investigative Genetics 2011, 2:23

Lovmar L, Syvänen A-C. Multiple displacement amplification to create a long lasting source of DNA for genetic studies. Human Mutation 27:603-614, 2006

Kurland L, Liljedahl U, Lind L. Hypertension and SNP genotyping in antihypertensive treatment. Cardiovasc Toxicol 2005, 5:133-142

Syvänen A-C. Toward genome-wide SNP genoytping. Nature Genetics 2005, 37 (6 suppl):S5-S10

Morin P.A, Luikart G, Wayne R. K and the SNP workshop group incl. Axelsson T:SNPs in ecology, evolution and conservation. Trends in Ecology & Evolution 2004, Vol 19: 208-216.

Syvänen A-C. Microarrays: Use in Mutation Detection. Cooper DN (ed): Nature Encyclopia of the Human Genome. Vol 3. 2003. Macmillan Publishers Ltd. Nature Publishing Group, London, UK, pp.940-944.

Liljedahl U, Syvänen A-C. SNP genotyping: current methods and practical applications. Clinical Laboratory International 2002, 26, 6-9.

Syvänen A-C. Accessing genetic variation: Genotyping single nucleotide polymorphisms. Nat Rev Genet 2001, 2(12), 930-942

Musa M. Mhlanga and Malmberg L. Using molecular beacons to detect single nucleotide polymorphisms with real-time PCR. Methods 2001 25:463-471

Syvänen A-C. From gels to chips: "Minisequencing" primer extension for analysis of point mutations and single nucleotide polymorphims. Human Mutation 1999 13:1-10


Syvänen A-C Connecting genomics and clinical researchEuropean Union 22, 354-355, 2011 Public Service Review

Syvänen A-C, Nilbert M, Björkegren J. Avdramatisera DNA-testernaBrännpunkt, Svenska Dagbladet, Oct 17, 2010 (in Swedish).

Syvänen A-C, Taylor G. Approaches for Analyzing Human Mutations and Nucleotide Sequence Variation: A Report from the VII International Mutation Detection 2003 Meeting. Hum.Mut. 2004, 23:401-405

Silander K, Axelsson T, Widén E, Dahlgren A, Palotie A, Syvänen A-C. Analysis of genetic variation in the GenomEUtwin project. Twin Res. 2003, 6: 391-398

Liljedahl U, Syvänen A-C. SNP genotyping: current methods and practical applications. Clincal Laboratory International 2002, 26: 6-9.

Kurland L, Lind L, Lithell H, Syvänen A-C, Melhus H. (2003) Pharmacogenetics--pathway to individualized antihypertensive pharmacotherapyLäkartidningen. 100(8):600-3 (in Swedish) English abstract on PubMed.

Syvänen AC, Soderlund H. DNA sandwiches with silver and gold. Nat Biotechnol. 2002 Apr;20(4):349-50

Isakssson A, Landegren U, Syvänen A-C, Bork P, Stein C, Ortigao F, Brookes T. Discovery, scoring and utilization of human single nucleotide polymorphisms: A multidisciplinary problem. Eur J Hum Genet 2000, 7:154-156

Syvänen A-C, Landegren U, Isaksson A, Gyllensten U, Brookes T. Enthusiasm mixed with scepticism about SNPs for dissecting complex disorders. Meeting report. Eur J Hum Genet 1999, 7:98-101

PhD theses, supervised by Ann-Christine Syvänen

Dahlberg, Johan (2018) Genetic Cartography at Massively Parallel Scale
Faculty opponent: Dr Michael C. Zody, New York, USA

Marincevic-Zuniga, Yanara (2018) Resolving the Genomic Complexity of Pediatric Acute Lymphoblastic Leukemia
Faculty opponent: Dr Caroline Heckman, Helsinki, Finland

Carl Mårten Lindqvist (2016) Genomic characterization of pediatric acute lymphoblastic leukemia by deep sequencing
Faculty opponent: Professor Marth Gabor, Salt Lake City, UT, USA

Wang, Chuan (2012) DNA Sequence Variants in Human Autoimmune Diseases
Faculty opponent: Dr Jeffrey C. Barrett, Cambridge, United Kingdom.

Nordlund, Jessica (2012) Gene Expression and DNA Methylation in Acute Lymphoblastic Leukemia
Faculty opponent: Professor Xavier Estivill, Barcelona, Spain

Lundmark, Per (2011) Genetic and Genomic Analysis of DNA Sequence Variation
Faculty opponent: Professor Gert-Jan B. van Ommen, Leiden, Netherlands

Ahlford, Annika (2010) Applications of Four-Colour Fluorescent Primer Extension Technology for SNP Analysis and Discovery
Faculty opponent: Professor David Schwartz, Madison, WI, USA

Sandling, Johanna (2010) Genetic Analyses of Multiple Sclerosis and Systemic Lupus Erythematosus: From Single Markers to Genome-Wide Data
Faculty opponent: Professor Javier Martín Ibáñez, Granada, Spain

Milani, Lili (2009) Gene Expression in Cancer Cells: Detection of Splice Variants, Allele-specific Expression and DNA Methylation
Faculty opponent: Professor Thomas R Gingeras, New York, USA

Kristjansdottir, Gudlaug Thora (2009) Genetic Variation and Expression of the IRF5 Gene in Autoimmune Diseases
Faculty opponent: Dr Unnur Þorsteinsdóttir, Reykjavík, Iceland

Dahlgren, Andreas (2007) Analysis of Complex Genetic Traits in Population Cohorts using High-throughput Genotyping Technology
Faculty opponent: Dr Struan Grant, Philadelphia, USA

Rönn, Ann-Charlotte (2007) Analysis of Nucleotide Variations in Non-human Primates
Faculty opponent: Dr Philip Morin, La Jolla, USA

Sigurdsson, Snaevar (2006) Large-Scale Genotyping for Analysis of the Type I Interferon System in Autoimmune Diseases
Faculty opponent: Professor Timothy Behrens, Minneapolis, USA

Fredriksson, Mona (2005) Using minisequencing technology for analysing genetic variation in DNA and RNA
Faculty opponent: Professor Aarno Palotie, Helsinki, Finland

Lovmar, Lovisa (2004) Methods for Analysis of Disease Associated Genomic Sequence Variation
Faculty opponent: Professor Pui-Yan Kwok, San Francisco, USA

Liljedahl, Ulrika (2004) Microarray Technology for Genotyping in Pharmacogenetics
Faculty opponent: Professor Denis Grant, Toronto, Canada

Lindroos, Katarina (2002) Accessing Genetic Variation by Microarray Technology
Faculty opponent: Professor Edwin Southern, Oxford, UK

Olsson, Charlotta (2001) Quantitative analysis of disease associated mutations and sequence variants
Faculty opponent: Docent Anu Suomalainen, Helsinki, Finland

MSc Theses, Molecular Precision Medicine

  • Student thesis

    Annett, Alva

    Single Cell Methods and Cell Hashing forHigh Throughput Drug Screens


    Open access

Book chapters

Nordlund J (2020) Advances in whole genome methylomic sequencing. Epigenetics Methods 18 ( )

Nordlund J, Bäcklin C, Raine A (2019) Computational and Statistical Analysis of Array-Based DNA Methylation Data. In: Krasnitz A. (eds) Cancer Bioinformatics. Methods in Molecular Biology, vol 1878. (  )

Milani L, & Syvänen AC. (2009). Genotyping single nucleotide polymorphisms by multiplex minisequencing using tag-arraysMethods Mol Biol, 529, 215-229

Sigurdsson S. and Syvänen AC. SNP genotyping using tag-array minisequencing. Taylor, Graham R. / Day, Ian N. / Human Genome Organization (HUGO) (eds.) Guide to Mutation Detection John Wiley & Sons, February 2005

Lindroos K., Liljedahl U., Sigurdsson S. and Syvänen AC. High-Throughput SNP Genotyping by Minisequencing Primer Extension Using Oligonucleotide Microarrays. Taylor, Graham R. / Day, Ian N. / Human Genome Organization (HUGO) (eds.) Guide to Mutation Detection John Wiley & Sons, February 2005

Lovmar L., Sigurdsson S., and Syvänen AC. Genotyping of Single Nucleotide Polymorphisms by Minisequencing Using Tag Arrays. Julio Celis, Nigel Carter, Kai Simons, J. Small, Tony Hunter, David Shotton (eds) Cell Biology vol3 Elsevier Science (USA) Nov 2005 pp455-462

Liljedahl U, Syvänen A-C. Multiplex minisequencing on microarrays: Applications to pharmacogenetics of antihypertensive drug response. Kalow W, Meyer U, Tyndale R (eds): Pharmacogenomics 2nd edition, Taylor and Francis 2005 156:341-351

Lovmar L, Syvänen A-C. Genotyping single-nucleotide polymorphisms by minisequencing using tag arrays. Joos T, Fortina P (eds): Methods Mol Med - Microarrays in Clinical Diagnostics, Humana Press 2005 144:79-92

Liljedahl U, Fredriksson M, Syvänen A-C. Analysis of DNA sequence variation in the microarray format. Müller U R, Nicolau D V (eds): Microarray Technology and Its Applications, Springer Verlag 2005 pp. 211-227

Lindroos K, Liljedahl U, Syvänen AC. Genotyping SNPs by minisequencing primer extension using oligonucleotide microarraysMethods Mol Biol 2003 212:149-165

Olsson C, Liljedahl U, Syvänen AC. Quantitative analysis of SNPs in pooled DNA samples by solid-phase minisequencingMethods Mol Biol 2003 212:167-176

Wartiovaara A, Syvänen AC. Analysis of nucleotide sequence variations by solid-phase minisequencing. Methods Mol Biol 2002 187:57-63

Sitbon G, Syvänen A-C. Multiplex flourescent minisequensing applied to the typing of genes encoding drug metabolozing enzymes. Kalow W, Mayer UA, Tyndale R (eds): Pharmacogenomics. Marcel Dekker, Inc. pp 191-200, 2001.

Patent families

Raine A, Nordlund J: SPlinted-Ligation Adapter Tagging (SPLAT). US patent No: US20190194649A1, Issued Sept. __, 2021.

Söderlund H, Syvänen A-C: Method for determining specific nucleotide variations. International application published under the Patent Cooperation Treaty (PCT), International publication number WO 91/13075, 1991, European Patent No 0648280 Issued May 12th, 1999, US patent No: 6,013,431 Issued Jan. 11, 2000 (Issued patent AU 1994, NZ 1992, ZA 1991).

Last modified: 2022-05-03