2000 2001 2002 2003 2004
2005 2006 2007 2008 2009
2010 2011 2012

Review articles
PhD theses
Book chapters
Patent families
Miscellaneous
 

 Original articles

2012

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 Remission. PLoS ONE 7(4): e34513

2011

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 AC (2011) Digital gene expression profiling of primary acute lymphoblastic leukemia cells. Leukemia. 2011 Dec 16 (Online)

Cunninghame Graham DS, Morris DL, Bhangale TR, Criswell LA, Syvänen AC, 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

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 AC (2011). Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome. Genes Immun. 12(2), 100-109.

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

Sovio U, Mook-Kanamori DO, Warrington NM, Lawrence R, Briollais L, Palmer CN, Cecil J, Sandling JK, Syvänen AC, 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.

Nitsch D, Sandling JK, Byberg L, Larsson A, Tuvemo T, Syvänen AC, 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.

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

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 AC (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

 

2010

Saxena, R., et al. (2010). Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet, 42(2), 142-148

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

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

Uronen, R. L., Lundmark, P., Orho-Melander, M., Jauhiainen, M., Larsson, K., Siegbahn, A., Wallentin, L., Zethelius, B., Melander, O., Syvänen, A. C., & 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

Heid, I. M., 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

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

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

Feng, D., Stone, R. C., Eloranta, M. L., Sangster-Guity, N., Nordmark, G., Sigurdsson, S., Wang, C., Alm, G., Syvänen, A. C., Rönnblom, L., & Barnes, B. J. (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

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

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

 

2009

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

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

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

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

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

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

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

 

2008

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)

 

2007

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

 

2006

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. Pharmacogenetics and 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 2006;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

 

2005

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 erythematosus. Am 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.

 

2004

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. 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. 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. 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. 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. 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. 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. Angiotensinogen gene polymorphisms: Relationship to blood pressure response to antihypertensive treatment. Am J Hypertens. 2004 17:8-13

 

2003

Hallberg P, Lind L, Michaelsson K, Kurland L, Kahan T, Malmqvist K, Ohman KP, Nystrom F, Liljedahl U, Syvänen A-C, Melhus H. 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. 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. 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. 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. 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. A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response. Pharmacogenetics 2003 13:7-17

 

2002

Lindroos K, Sigurdsson S, Johansson K, Ronnblom L, Syvänen AC. 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. Genomics 2002 79:432-436 

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

 

2001

Lagerström-Fermér M, Olsson L, Forsgren L, Syvänen A-C. 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. 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. 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. 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. 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. 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

 

2000

Olsson C, Waldenström E, Westermark K, Landegren U, Syvänen A-C. 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. 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. 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. A system for specific, high-throughput genotyping by allele-specific primer exrtension on micorarrays. Genome Research 2000 10:1031-1042

 

Review articles

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, 2:930-942

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

 

PhD theses

Per Lundmark (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

 

Book chapters

Milani L, & Syvänen AC. (2009). Genotyping single nucleotide polymorphisms by multiplex minisequencing using tag-arrays. Methods 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 microarrays. Methods Mol Biol 2003 212:149-165

Olsson C, Liljedahl U, Syvänen AC. Quantitative analysis of SNPs in pooled DNA samples by solid-phase minisequencing. Methods 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

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).

  

Miscellaneous

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

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 pharmacotherapy. Läkartidningen. 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