Publications 2002-2013
- Okada Y et al.
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
Nature. 2013 Dec 25. doi: 10.1038/nature12873. [Epub ahead of print] PubMed PMID: 24390342.
Co-authors (EGCUT) – Esko T, Metspalu A
- Vaher U et al.
De Novo SCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders.
J Child Neurol. 2013 Dec 18. [Epub ahead of print] PubMed PMID: 24352161.
Co-authors (EGCUT) – Vaher U, Nõukas M, Nikopensius T, Kals M, Annilo T, Nelis M, Metspalu A
- Rodriguez-Fontenla C et al.
Assessment of osteoarthritis candidate genes in a meta-analysis of 9 genome-wide association studies.
Arthritis Rheum. 2013 Dec 10. doi: 10.1002/art.38300. [Epub ahead of print] PubMed PMID: 24338622.
Co-authors (EGCUT) – Esko T, Metspalu A
- Parsa A et al.
Common variants in mendelian kidney disease genes and their association with renal function.
J Am Soc Nephrol. 2013 Dec;24(12):2105-2117. doi: 10.1681/ASN.2012100983. Epub 2013 Sep 12. PubMed PMID: 24029420; PubMed Central PMCID: PMC3839542.
Co-authors (EGCUT) – Esko T, Mägi R, Metspalu A, Nikopensius T
- Yao C et al.
Sex- and age-interacting eQTLs in human complex diseases. Hum Mol Genet. 2013 Nov 28. [Epub ahead of print] PubMed PMID: 24242183.
Co-authors (EGCUT) – Esko T, Metspalu A
- Global Lipids Genetics Consortium et al.
Discovery and refinement of loci associated with lipid levels.
Nat Genet. 2013 Nov;45(11):1274-1283. doi: 10.1038/ng.2797. Epub 2013 Oct 6. PubMed PMID: 24097068; PubMed Central PMCID: PMC3838666.
Co-authors (EGCUT) – Esko T, Fischer K, Perola M, Metspalu A, Mihailov E
- Do R et al.
Common variants associated with plasma triglycerides and risk for coronary artery disease.
Nat Genet. 2013 Nov;45(11):1345-1352. doi: 10.1038/ng.2795. Epub 2013 Oct 6. PubMed PMID: 24097064.
Co-authors (EGCUT) – Esko T, Fischer K, Mihailov E, Perola M, Metspalu A
- Nikopensius T et al.
A missense mutation in DUSP6 is associated with Class III malocclusion.
J Dent Res. 2013 Oct;92(10):893-898. doi: 10.1177/0022034513502790. Epub 2013 Aug 21. PubMed PMID: 23965468.
Co-authors (EGCUT) – Nikopensius T, Annilo T, Kals M, Kivistik PA, Milani L, Metspalu A
- Tammiste A et al.
Whole-exome sequencing identifies a polymorphism in the BMP5 gene associated with SSRI treatment response in major depression.
J Psychopharmacol. 2013 Oct;27(10):915-920. doi: 10.1177/0269881113499829. Epub 2013 Aug 7. PubMed PMID: 23926243.
Co-authors (EGCUT) – Tammiste A, Ng PC, Metspalu A, Esko T, Fischer K, Pettai K, Võsa U, Tšernikova N
- Westra HJ et al.
Systematic identification of trans eQTLs as putative drivers of known disease associations.
Nat Genet. 2013 Oct;45(10):1238-1243. doi: 10.1038/ng.2756. Epub 2013 Sep 8. PubMed PMID: 24013639.
Co-authors (EGCUT) – Esko T, Reinmaa E, Fischer K, Nelis M, Milani L,Perola M, Metspalu A
- Evans DM et al.
Mining the human phenome using allelic scores that index biological intermediates.
PLoS Genet. 2013 Oct;9(10):e1003919. doi:10.1371/journal.pgen.1003919. Epub 2013 Oct 31. PubMed PMID: 24204319; PubMed Central PMCID: PMC3814299.
Co-authors (EGCUT) – GIANT Consortium: Esko T, Mägi R, Nelis M, Fischer K, Mihailov E, Perola M, Metspalu A (Snieder H, Morris AD)
- Thorgeirsson TE et al.
A common biological basis of obesity and nicotine addiction.
Transl Psychiatry. 2013 Oct 1;3:e308. doi:10.1038/tp.2013.81. PubMed PMID: 24084939; PubMed Central PMCID: PMC3818010.
Co-authors (EGCUT) – ENGAGE consortium: Esko T, Mägi R, Nelis M, Metspalu A
- Dymerska D et al.
Lynch syndrome mutations shared by the Baltic States and Poland.
Clin Genet. 2013 Sep 5. doi: 10.1111/cge.12251. [Epub ahead of print] PubMed PMID: 24032978.
Co-authors (EGCUT) – Metspalu A
- Evangelou E et al.
A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip.
Ann Rheum Dis. 2013 Sep 4. doi:10.1136/annrheumdis-2012-203114. [Epub ahead of print] PubMed PMID: 23989986.
Co-authors (EGCUT) – Esko T, Milani L, Metspalu A
- Graff M et al.
Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
Hum Mol Genet. 2013 Sep 1;22(17):3597-3607. doi: 10.1093/hmg/ddt205. Epub 2013 May 12. PubMed PMID: 23669352; PubMed Central PMCID: PMC3736869.
Co-authors (EGCUT) – Esko T, Nelis M, Nikopensius T, Metspalu A, Mägi R
- Ivanov M et al.
Ontogeny, distribution and potential roles of 5-hydroxymethylcytosine in human liver function.
Genome Biol. 2013 Aug 19;14(8):R83. [Epub ahead of print] PubMed PMID: 23958281.
Co-authors (EGCUT) – Kals M, Metspalu A, Milani L
- Cheng CY et al.
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
Am J Hum Genet. 2013 Aug 8;93(2):264-277. doi: 10.1016/j.ajhg.2013.06.016. PubMed PMID: 24144296; PubMed Central PMCID: PMC3772747.
Co-authors (EGCUT) – Haller T, Metspalu A
- Hu YJ et al.
Meta-analysis of gene-level associations for rare variants based on single-variant statistics.
Am J Hum Genet. 2013 Aug 8;93(2):236-248. doi: 10.1016/j.ajhg.2013.06.011. Epub 2013 Jul 25. PubMed PMID: 23891470; PubMed Central PMCID: PMC3738834.
Co-authors (EGCUT) – GIANT Consortium: Esko T, Mägi R, Nelis M, Fischer K, Mihailov E, Perola M, Metspalu A (Snieder H, Morris AD)
- Fernández-Rhodes L et al.
Association of adiposity genetic variants with menarche timing in 92,105 women of European descent.
Am J Epidemiol. 2013 Aug 1;178(3):451-460. doi: 10.1093/aje/kws473. Epub 2013 Apr 4. PubMed PMID: 23558354; PubMed Central PMCID: PMC3816344.
Co-authors (EGCUT) – Esko T, Mihailov E, Metspalu A
- Amin N et al.
Refining genome-wide linkage intervals using a meta-analysis of genome-wide association studies identifies loci influencing personality dimensions.
Eur J Hum Genet. 2013 Aug;21(8):876-882. doi: 10.1038/ejhg.2012.263. Epub 2012 Dec 5. PubMed PMID: 23211697; PubMed Central PMCID: PMC3722675.
Co-authors (EGCUT) – Metspalu A, Esko T
- Byrne EM et al.
A genome-wide association study of sleep habits and insomnia.
Am J Med Genet B Neuropsychiatr Genet. 2013 Jul;162B(5):439-451. doi: 10.1002/ajmg.b.32168. Epub 2013 May 31. PubMed PMID: 23728906.
Co-authors (EGCUT) – Esko T, Teder-Laving M, Metspalu A
- Evangelou E et al.
The DOT1L rs12982744 polymorphism is associated with osteoarthritis of the hip with genome-wide statistical significance in males.
Ann Rheum Dis. 2013 Jul;72(7):1264-1265. doi: 10.1136/annrheumdis-2012-203182. Epub 2013 Mar 16. PubMed PMID: 23505243; PubMed Central PMCID: PMC3686326.
Co-authors (EGCUT) – Esko T, Metspalu A
- Fears R et al.
The perspective from EASAC and FEAM on direct-to-consumer genetic testing for health-related purposes.
Eur J Hum Genet. 2013 Jul;21(7):703-707. doi: 10.1038/ejhg.2012.238. Epub 2012 Nov 21. Review. PubMed PMID: 23169492; PubMed Central PMCID: PMC3722941.
Co-authors (EGCUT) –
- Paul DS et al.
Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci.
Genome Res. 2013 Jul;23(7):1130-1141. doi: 10.1101/gr.155127.113. Epub 2013 Apr 9. PubMed PMID: 23570689; PubMed Central PMCID: PMC3698506.
Co-authors (EGCUT) –
- Cousminer DL et al.
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
Hum Mol Genet. 2013 Jul 1;22(13):2735-2747. doi: 10.1093/hmg/ddt104. Epub 2013 Feb 27. PubMed PMID: 23449627; PubMed Central PMCID: PMC3674797.
Co-authors (EGCUT) – GIANT Consortium: Esko T, Mägi R, Nelis M, Fischer K, Mihailov E, Perola M, Metspalu A (Snieder H, Morris AD)
- Rietveld CA et al.
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
Science. 2013 Jun 21;340(6139):1467-1471. doi: 10.1126/science.1235488. Epub 2013 May 30. PubMed PMID: 23722424; PubMed Central PMCID: PMC3751588.
Co-authors (EGCUT) – Esko T, Milani L, Fischer K, Reinmaa E, Perola M, Metspalu A
- Võsa U et al.
Meta-analysis of microRNA expression in lung cancer.
Int J Cancer. 2013 Jun 15;132(12):2884-2893.doi: 10.1002/ijc.27981. Epub 2012 Dec 27. PubMed PMID: 23225545.
Co-authors (EGCUT) – Võsa U, Metspalu A, Annilo T
- Esko T et al.
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity.
Eur J Hum Genet. 2013 Jun;21(6):659-665. doi: 10.1038/ejhg.2012.229. Epub 2012 Dec 19. PubMed PMID: 23249956; PubMed Central PMCID: PMC3658181.
Co-authors (EGCUT) – Esko T, Nelis M, Metspalu A
- Nikopensius T et al.
Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA).
J Dent Res. 2013 Jun;92(6):507-511. doi: 10.1177/0022034513487210. Epub 2013 Apr 19. PubMed PMID: 23603338.
Co-authors (EGCUT) – Annilo T, Kals M, Mägi R, Metspalu A
- den Hoed M et al.
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
Nat Genet. 2013 Jun;45(6):621-631. doi: 10.1038/ng.2610. Epub 2013 Apr 14. PubMed PMID: 23583979; PubMed Central PMCID: PMC3696959.
Co-authors (EGCUT) – Esko T, Mihailov E, Fischer K, Milani L, Metspalu A, Perola M
- Randall JC et al.
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.
PLoS Genet. 2013 Jun;9(6):e1003500. doi: 10.1371/journal.pgen.1003500. Epub 2013 Jun 6. PubMed PMID: 23754948; PubMed Central PMCID: PMC3674993.
Co-authors (EGCUT) – Esko T, Mägi R, Nelis M, Metspalu A, Perola M, Fischer K
- Berndt SI et al.
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
Nat Genet. 2013 May;45(5):501-512. doi: 10.1038/ng.2606. Epub 2013 Apr 7. PubMed PMID: 23563607.
Co-authors (EGCUT) – Mägi R, Mihailov E, Milani L, Metspalu A, Morris AD, Snieder H, Esko T, Fischer K
- Lener MR et al.
Can selenium levels act as a marker of colorectal cancer risk?
BMC Cancer. 2013 Apr 29;13:214. doi:10.1186/1471-2407-13-214. PubMed PMID: 23627542; PubMed Central PMCID:PMC3641950.
Co-authors (EGCUT) – Tammesoo ML, Metspalu A
- Perry JR et al.
A genome-wide association study of early menopause and the combined impact of identified variants.
Hum Mol Genet. 2013 Apr 1;22(7):1465-1472. doi: 10.1093/hmg/dds551. Epub 2013 Jan 9. PubMed PMID: 23307926; PubMed Central PMCID: PMC3596848.
Co-authors (EGCUT) – Esko T, Metspalu A
- Codd V et al.
Identification of seven loci affecting mean telomere length and their association with disease.
Nat Genet. 2013 Apr;45(4):422-427, 427e1-2. doi: 10.1038/ng.2528. PubMed PMID: 23535734.
Co-authors (EGCUT) – Fischer K, Esko T, Mihailov E, Metspalu A, Perola M
- Ivanov M et al.
In-solution hybrid capture of bisulfite-converted DNA for targeted bisulfite sequencing of 174 ADME genes.
Nucleic Acids Res. 2013 Apr 1;41(6):e72. doi:10.1093/nar/gks1467. Epub 2013 Jan 15. PubMed PMID: 23325842; PubMed Central PMCID: PMC3616706.
Co-authors (EGCUT) – Kals M, Milani L
- Verhoeven V et al.
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
Nat Genet. 2013 Mar;45(3):314-318. doi: 10.1038/ng.2554. Epub 2013 Feb 10. Erratum in: Nat Genet. 2013 Jun;45(2):712. Janmahasathian, Sarayut [corrected to Sarayut Janmahasatian]. PubMed PMID: 23396134; PubMed Central PMCID: PMC3740568.
Co-authors (EGCUT) – Haller T, Metspalu A
- Köttgen A et al.
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
Nat Genet. 2013 Feb;45(2):145-154. doi: 10.1038/ng.2500. Epub 2012 Dec 23. PubMed PMID: 23263486; PubMed Central PMCID: PMC3663712.
Co-authors (EGCUT) – Esko T, Org E, Metspalu A, Snieder H, Haller T
- Allebrandt KV et al.
A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila.
Mol Psychiatry. 2013 Jan;18(1):122-132. doi: 10.1038/mp.2011.142. Epub 2011 Nov 22. PubMed PMID: 22105623.
Co-authors (EGCUT) – Esko T, Teder-Laving M, Metspalu A
- CARDIoGRAMplusC4D Consortium et al.
Large-scale association analysis identifies new risk loci for coronary artery disease.
Nat Genet. 2013 Jan;45(1):25-33. doi: 10.1038/ng.2480. Epub 2012 Dec 2. PubMed PMID: 23202125; PubMed Central PMCID: PMC3679547.
Co-authors (EGCUT) – Esko T, Fischer K, Mihailov E, Maouche S, Morris AD, Metspalu A, Perola M, Milani L
- Kumar V et al.
Human disease-associated genetic variation impacts large intergenic non-coding RNA expression.
PLoS Genet. 2013;9(1):e1003201. doi: 10.1371/journal.pgen.1003201. Epub 2013 Jan 17. PubMed PMID: 23341781; PubMed Central PMCID: PMC3547830.
Co-authors (EGCUT) – Esko T, Reinmaa E, Võsa U, Metspalu A
- Fall T et al.
European Network for Genetic and Genomic Epidemiology (ENGAGE) consortium. The role of adiposity in cardiometabolic traits: a mendelian randomization analysis. PLoS Med. 2013;10(6):e1001474. doi: 10.1371/journal.pmed.1001474. Epub 2013 Jun 25. PubMed PMID: 23824655; PubMed Central PMCID: PMC3692470.
Co-authors (EGCUT) – Mägi R, Fischer K, Kals M, Esko T, Metspalu A
- Pichler I et al.
Serum iron levels and the risk of Parkinson disease: a mendelian randomization study.
PLoS Med. 2013;10(6):e1001462. doi: 10.1371/journal.pmed.1001462. Epub 2013 Jun 4. Erratum in: PLoS Med. 2013 Jun;10(6). doi:10.1371/annotation/c4d81646-0c0e-4a3e-9425-b220bae2d8b6. PubMed PMID: 23750121; PubMed Central PMCID: PMC3672214.
Co-authors (EGCUT) – Esko T, Metspalu A
- Vimaleswaran KS et al.
Causal relationship between obesity and vitamin D status: bi-directional Mendelian randomization analysis of multiple cohorts.
PloS Med. 2013;10(2):e1001383. doi: 10.1371/journal.pmed.1001383. Epub 2013 Feb 5. PubMed PMID: 23393431; PubMed Central PMCID: PMC3564800.
Co-authors (EGCUT) – Mägi R, Esko T, Metspalu A
- Walters RG et al.
Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity.
PLoS One. 2013;8(3):e58048. doi: 10.1371/journal.pone.0058048. Epub 2013 Mar 12. PubMed PMID: 23554873; PubMed Central PMCID: PMC3595275.
Co-authors (EGCUT) – Esko T, Metspalu A
- Khrunin AV et al.
A genome-wide analysis of populations from European Russia reveals a new pole of genetic diversity in northern Europe.
PLoS One. 2013;8(3):e58552. doi: 10.1371/journal.pone.0058552. Epub 2013 Mar 7. PubMed PMID: 23505534; PubMed Central PMCID: PMC3591355.
Co-authors (EGCUT) – Esko T, Nelis M, Metspalu A
Contribution of 32 GWAS-identified common variants to severe obesity in European adults referred for bariatric surgery.
PLoS One. 2013 Aug 7;8(8):e70735. doi: 10.1371/journal.pone.0070735. eCollection 2013. PubMed PMID: 23950990.
Co-authors (EGCUT) –
RegScan: a GWAS tool for quick estimation of allele effects on continuous traits and their combinations. Brief Bioinform. 2013 Sep 5. [Epub ahead of print] PubMed PMID: 24008273.
Co-authors (EGCUT) – Mägi R, Kals M, Esko T, Fischer K
Evolution of the pygmy phenotype: evidence of positive selection from genome-wide scans in African, Asian and Melanesian pygmies. Hum Biol. 2013 Feb-Jun;85(1-3):251-284. PubMed PMID: 24297229.
Co-authors (EGCUT) – Mägi R, Nelis M
2012 (41)
Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function.
Avaldatud: Human Molecular Genetics. 2012 Dec 15;21(24):5329-43.
DOI: 10.1093/hmg/dds369
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance
Avaldatud: Nat Genet. 2012 May 13;44(6):659-69
DOI: 10.1038/ng.2274
Genome-Wide Association Analysis of Imputed Rare Variants: Application to Seven Common Complex Diseases
Avaldatud: Genet Epidemiol. 2012 Sep 5
DOI: 10.1002/gepi.21675
A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site.
Avaldatud: Blood. 2012 Dec 6;120(24):4859-68.
DOI: doi: 10.1182/blood-2012-01-401893
The perspective from EASAC and FEAM on direct-to-consumer genetic testing for health-related purposes
Avaldatud: European Journal of Human Genetics (2012), 1–5
DOI: doi:10.1038/ejhg.2012.238
A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila
Avaldatud: Mol Psychiatry. Nov 22.
DOI: 10.1038/mp.2011.142
Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function.
Avaldatud: Hum Mol Genet 2012; 21(24): 5329-5343
Meta-analysis of microrna expression in lung cancer
Avaldatud: International Journal of Cancer. Published online: 27 DEC 2012
DOI: doi:10.1002/ijc.27981
Refining genome-wide linkage intervals using a meta-analysis of genome-wide association studies identifies loci influencing personality dimensions
Avaldatud: European Journal of Human Genetics
DOI: 10.1038/ejhg.2012.263.
Large-scale association analysis identifies new risk loci for coronary artery disease
Avaldatud: Nature Genetics Dec 2.
DOI: 10.1038/ng.2480.
DNA methylation dynamics in the hepatic CYP3A4 gene promoter
Avaldatud: Biochimie. 2012 Nov; 94(11):2338-44.
DOI: 10.1016/j.biochi.2012.07.013.
Genetic effects on variability: FTO genotype is associated with phenotypic variance of body mass index
Avaldatud: Nature, Vol: 490 (7419) pp: 267-72; Published: 2012-Oct-11
DOI: 10.1038/nature11401
History of the Diagnosis of a Sexually Transmitted Disease is Linked to Normal Variation in Personality Traits.
Avaldatud: The Journal of Sexual Medicine; Volume 9, Issue 11, Pages 2733–2981
DOI: 10.1111/j.1743-6109.2012.02891.x.
Influence of Common Genetic Variation on Lung Cancer Risk: Meta-Analysis of 14,900 Cases and 29,485 Controls.
Avaldatud: Human Molecular Genetics. Volume: 21 Issue: 22 Pages: 4980-95
DOI: 10.1093/hmg/dds334
A common variant near the KCNJ2 gene is associated with T-peak to T-end interval.
Avaldatud: Heart Rhythm. 2012 Jul;9 (7):1099-103. Epub 2012 Feb 15.
DOI: 10.1016/j.hrthm.2012.02.019
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways
Avaldatud: Nature Genetics 2012 Sep; 44(9):991-1005. Epub 2012 Aug 12.
DOI: 10.1038/ng.2385
Methylation markers of early-stage non-small cell lung cancer
Avaldatud: PLos One 2012;7(6):e39813. Epub 2012 Jun 29.
DOI: 10.1371/journal.pone.0039813
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes
Avaldatud: Nature Genetics. 2012 Sep;44(9):981-90. Epub 2012 Aug 12.
DOI: 10.1038/ng.2383
Results from a blind and a non-blind randomised trial run in parallel: experience from the Estonian Postmenopausal Hormone Therapy (EPHT) Trial
Avaldatud: BMC Medical Research Methodology. 2012 Apr 4;12:44.
Lung cancer and DNA repair genes: multilevel association analysis from the International Lung Cancer Consortium
Avaldatud: Carcinogenesis. 2012 May;33(5):1059-64. Epub 2012 Mar 1.
DOI: 10.1093/carcin/bgs116.
Genome-wide Meta-analysis of Common Variant Differences between Men and Women
Avaldatud: Human Molecular Genetics. Vol: 21, Issue: 21, pp: 4805-15. Published: 2012-Nov-1.
DOI: 10.1093/hmg/dds304
Toward a roadmap in global biobanking for health
Avaldatud: European Journal of Human Genetics, Jun 20.
DOI: 10.1038/ejhg.2012.96.
Meta-analysis identifies multiple loci associated with kidney function–related traits in east Asian populations
Avaldatud: Nature Genetics 44, 904–909 (Published online 15 July)
DOI: 10.1038/ng.2352
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
Avaldatud: Nature Genetics
DOI: 10.1038/ng.2500
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity
Avaldatud: European Journal of Human Genetics
DOI: 10.1038/ejhg.2012.229
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
Avaldatud: Nature Genetics 44, 1341–1348 (Published online 11 November 2012)
DOI: doi:10.1038/ng.2467
Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study (link)
Avaldatud: The Lancet. Published Online July 3, 2012
DOI: 10.1016/S0140-6736(12)60681-3
Evidence of Inbreeding Depression on Human Height
Avaldatud: PLOS Genetics; e1002655, July 19, 2012, Volume 8, Issue 7
Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium. (link)
Avaldatud: Hum Genet. 2012 Jun 5.
Common variants at 6q22 and 17q21 are associated with intracranial volume (link)
Avaldatud: Nature Genetics 44, 539–544 (2012)
DOI: 10.1038/ng.2245
Common variants at 12q15 and 12q24 are associated with infant head circumference (link)
Avaldatud: Nature Genetics 44, 532–538 (2012)
DOI: 10.1038/ng.2238
Seventy-five genetic loci influencing the human red blood cell
Avaldatud: Nature - Received 06 February 2012 Accepted 15 October 2012 Published online 05 December 2012
DOI: 10.1038/nature11677
Combined Analysis of Genome-wide Association Studies for Crohn Disease and Psoriasis Identifies Seven Shared Susceptibility Loci (link)
Avaldatud: AJHG Volume 90, Issue 4, 6 April 2012, Pages 636–647
DOI: 10.1016/j.ajhg.2012.02.020.
The Estonian Genome Center of the University of Tartu at the disposal of scientists. Tartu Ülikooli Eesti geenivaramu on teadlaste käsutuses.
Avaldatud: Est Med J 91 / Eesti Arst 2012;91(4):190-198.
Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function (link)
Avaldatud: PLoS Genetics 8(3): e1002584 March 29, 2012
DOI: 10.1371/journal.pgen.1002584
A genome-wide association meta-analysis identifies new childhood obesity loci
Avaldatud: Nature Genetics, Published Online 15. April 2012
Coexpression Network Analysis in Abdominal and Gluteal Adipose Tissue Reveals Regulatory Genetic Loci for Metabolic Syndrome and Related Phenotypes
Avaldatud: PLoS Genetics, February 2012 | Volume 8 | Issue 2,
DOI: 10.1371/journal.pgen.1002505
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways (link)
Avaldatud: Nat Genet. 2012 Jan 22;44(3):260-8
DOI: 10.1038/ng.1051
Post-translational stabilization of thiopurine S-methyltransferase by S-adenosyl-l-methionine reveals regulation of TPMT*1 and *3C allozymes.
Avaldatud: Biochem Pharmacol. Epub 2012 Jan 17.
DOI: 10.1016/j.bcp.2012.01.010
Personality traits and eating habits in a large sample of Estonians
Avaldatud: Health Psychology. Epub 2012 Jan 23.
DOI: 10.1037/a0027041
Longevity candidate genes and their association with personality traits in the elderly.
Avaldatud: Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):192-200. doi: 10.1002/ajmg.b.32013. Epub 2011 Dec 27
DOI: 10.1002/ajmg.b.32013.
2011 (32)
The Lin28/let-7 axis regulates glucose metabolism.
Avaldatud: Cell. 2011 Sep 30;147(1):81-94
DOI: doi: 10.1016/j.cell.2011.08.033
Assessing the impact of missing genotype data in rare variant association analysis
Avaldatud: BMC Proc. 2011 Nov 29;5 Suppl 9:S107
DOI: 10.1186/1753-6561-5-S9-S107
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
Avaldatud: Nat Genet. 2012 May 13;44(6):659-69.
DOI: 10.1038/ng.2274
A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. (link)
Avaldatud: PLoS Genet. 2011 Mar;7(3):e1001333. Epub 2011 Mar 17. Erratum in: PLoS Genet. 2011 Apr;7(4).
Manifesto for a European Anxiety Disorders Research Network
Avaldatud: European Neuropsychopharmacology, Volume 20, Issue 6, June 2010, Pages 426-432
A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila. (link)
Avaldatud: Mol Psychiatry. 2011 Nov 22.
DOI: doi: 10.1038/mp.2011.142.
Genome-Wide Meta-Analysis of Psoriatic Arthritis Identifies Susceptibility Locus at REL.
Avaldatud: J Invest Dermatol. 2011 Dec 15.
DOI: doi: 10.1038/jid.2011.415.
New gene functions in megakaryopoiesis and platelet formation. (link)
Avaldatud: Nature. 2011 Nov 30;480(7376):201-8.
DOI: doi: 10.1038/nature10659.
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
Avaldatud: Nat Genet. 2011 Oct 16;43(11):1131-8
DOI: doi: 10.1038/ng.970.
The genetic association between personality and major depression or bipolar disorder. A polygenic score analysis using genome-wide association data
Avaldatud: Translational Psychiatry (2011) 1,e49
DOI: doi:10.1038/tp.2011.45
Longevity candidate genes and their association with personality traits in the elderly.
Avaldatud: Am J Med Genet B Neuropsychiatr Genet. 2011 Dec 27.
DOI: doi: 10.1002/ajmg.b.32013.
Giving and Withholding of Information following Genomic Screening: Challenges Identified in a Study of Primary Care Physicians in Estonia
Avaldatud: J Genet Counsel, Published on-line 08.12.11,
DOI: DOI 10.1007/s10897-011-9424-3
The role of a Bioresource Research Impact Factor as an incentive to share human bioresources.
Avaldatud: Nature genetics 43, 503-4
A Variant in MCF2L Is Associated with Osteoarthritis.
Avaldatud: American journal of human genetics 89, 446-50
New gene functions in megakaryopoiesis and platelet formation.
Avaldatud: Nature
A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol. (link)
Avaldatud: PLoS Genet. 2011 Oct;7(10):e1002333. Epub 2011 Oct 20.
The role of COX-2 and Nrf2/ARE in anti-inflammation and antioxidative stress: Aging and anti-aging.
Avaldatud: Medical hypotheses 77, 174-8
Human microRNAs miR-22, miR-138-2, miR-148a, and miR-488 are associated with panic disorder and regulate several anxiety candidate genes and related pathways.
Avaldatud: Biological psychiatry 69, 526-33
Variation in FGF1, FOXE1, and TIMP2 genes is associated with nonsyndromic cleft lip with or without cleft palate.
Avaldatud: Birth defects research. Part A, Clinical and molecular teratology 91, 218-25
Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study.
Avaldatud: Annals of the rheumatic diseases 70, 864-7
Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption.
Avaldatud: Proceedings of the National Academy of Sciences of the United States of America 108, 7119-24
Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits.
Avaldatud: PLoS genetics 7, e1001324
Identification of miR-374a as a prognostic marker for survival in patients with early-stage nonsmall cell lung cancer.
Avaldatud: Genes, chromosomes & cancer 50, 812-22
Investigating gene expression profile of non-small cell lung cancer.
Avaldatud: Cent. Eur. J. Med.
Metagenes associated with survival in NSCLC.
Avaldatud: Cancer Informatics, 10, 175-183
The Estonian Biobank – the gateway for the stratified medicine.,
Avaldatud: Research in Estonia Present and Future, 283-301
A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. (link)
Avaldatud: PLoS Genet. 2011 Mar;7(3):e1001333. Epub 2011 Mar 17. Erratum in: PLoS Genet. 2011 Apr;7(4).
Genome-Wide Association Analysis Identifies Variants Associated with Nonalcoholic Fatty Liver Disease That Have Distinct Effects on Metabolic Traits
Avaldatud: PLoS Genetics, March 2011, Volume 7, Issue 3, e1001324
Metagenes associated with survival in NSCLC (link)
Avaldatud: Cancer Informatics 2011:10 175–183
DOI: doi: 10.4137/CIN.S7135
Systems medicine and integrated care to combat chronic noncommunicable diseases. (link)
Avaldatud: Genome Med. 2011 Jul 6;3(7):43.
Comprehensive catalog of European biobanks. (link)
Avaldatud: Nat Biotechnol. 2011 Sep 8;29(9):795-7
DOI: doi: 10.1038/nbt.1958
Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. (link)
Avaldatud: Diabetes. 2011 Oct;60(10):2624-34. Epub 2011 Aug 26.
2010 (33)
CLOCK gene variants associate with sleep duration in two independent populations.
Avaldatud: Biological psychiatry 67, 1040-7
Manifesto for a European anxiety disorders research network.
Avaldatud: European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology 20, 426-32
Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements.
Avaldatud: BMC neurology 10, 17
Meta-analysis of genome-wide association studies for personality.
Avaldatud: Molecular psychiatry
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
Avaldatud: Nature genetics 42, 1077-85
Common variants in KCNN3 are associated with lone atrial fibrillation.
Avaldatud: Nature genetics 42, 240-4
Quality, quantity and harmony: the DataSHaPER approach to integrating data across bioclinical studies.
Avaldatud: International journal of epidemiology 39, 1383-93
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
Avaldatud: Nature genetics 42, 949-60
MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate.
Avaldatud: European journal of oral sciences 118, 213-20
Hypervariable intronic region in NCX1 is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits.
Avaldatud: BMC medical genetics 11, 15
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
Avaldatud: Nature 467, 832-8
Association between a 15q25 gene variant, smoking quantity and tobacco-related cancers among 17 000 individuals.
Avaldatud: International journal of epidemiology 39, 563-77
A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia.
Avaldatud: European journal of medical genetics 54, 136-43
Advances in molecular genetics of panic disorder.
Avaldatud: Molecular psychiatry 15, 681-701
Peripheral gene expression profiling of CCK-4-induced panic in healthy subjects.
Avaldatud: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 153B, 269-74
Susceptibility locus for non-syndromic cleft lip with or without cleft palate on chromosome 10q25 confers risk in Estonian patients.
Avaldatud: European journal of oral sciences 118, 317-9
Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate.
Avaldatud: Birth defects research. Part A, Clinical and molecular teratology 88, 748-56
HGV2009 meeting: bigger and better studies provide more answers and more questions.
Avaldatud: Human mutation 31, 886-8
Polymorphisms in MMP-2 and MMP-9 promoter regions are associated with endometriosis.
Avaldatud: Fertility and sterility 94, 1560-3
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
Avaldatud: Nature genetics 42, 937-48
Novel human pathological mutations. Gene symbol: SPAST. Disease: Hereditary spastic paraplegia.
Avaldatud: Human genetics 127, 112
Fibrinogen beta variants confer protection against coronary artery disease in a Greek case-control study.
Avaldatud: BMC medical genetics 11, 28
Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.
Avaldatud: Nature genetics 42, 448-53
Gene expression profiles of non-small cell lung cancer: survival prediction and new biomarkers.
Avaldatud: Oncology 79, 283-92
Comparison of DNA extraction methods for multiplex polymerase chain reaction.
Avaldatud: Analytical biochemistry 398, 260-2
Gene Expression-Based Approaches in Differentiation of Metastases and Second Primary Tumour.
Avaldatud: Case reports in oncology 3, 255-261
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
Avaldatud: Nature 463, 671-5
Variance determines self-observer agreement on the Big Five personality traits.
Avaldatud: Journal of Research in Personality 44, 4, 421-426
Hereditaarset spastilist parapleegiat süsteemselt käsitlenud uuring Eestis tõi esile uusi andmeid.
Avaldatud: Eesti Arst, 89(3), 165-170
Gene Expression Profiles of Non-Small Cell Lung Cancer: Survival Prediction and New Biomarkers
Avaldatud: Oncology 2010;79:283–292
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
Avaldatud: Nature. 2010 Feb 4;463(7281):671-5.
DOI: 10.1038/nature08727
Meta-analysis of sex-specific genome-wide association studies
Avaldatud: Genet Epidemiol. 2010 Dec;34(8):846-53
DOI: 10.1002/gepi.20540
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk
Avaldatud: Nature. 2011 Sep 11;478(7367):103-9
DOI: doi: 10.1038/nature10405
2009 (10)
Genetic associations of 115 polymorphisms with cancers of the upper aerodigestive tract across 10 European countries: the ARCAGE project.
Avaldatud: Cancer research 69, 2956-65
Analysis of allele and haplotype diversity across 25 genomic regions in three Eastern European populations.
Avaldatud: Human heredity 68, 35-44
Evaluation of the 124-plex SNP typing microarray for forensic testing.
Avaldatud: Forensic science international. Genetics 4, 43-8
Selection for genetic variation inducing pro-inflammatory responses under adverse environmental conditions in a Ghanaian population.
Avaldatud: PloS one 4, e7795
Alcohol-related cancers and genetic susceptibility in Europe: the ARCAGE project: study samples and data collection.
Avaldatud: European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) 18, 76-84
A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.
Avaldatud: American journal of human genetics 85, 679-91
Serotonin transporter promoter region polymorphisms do not influence treatment response to escitalopram in patients with major depression.
Avaldatud: European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology 19, 451-6
Genetic structure of Europeans: a view from the North-East.
Avaldatud: PloS one 4, e5472
Replication of novel susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 in Estonian and Lithuanian patients.
Avaldatud: American journal of medical genetics. Part A 149A, 2551-3
ROS1 Asp2213Asn polymorphism is not associated with coronary artery disease in a Greek case-control study.
Avaldatud: Clinical chemistry and laboratory medicine : CCLM / FESCC 47, 1471-3
2008 (6)
Development of a single tube 640-plex genotyping method for detection of nucleic acid variations on microarrays.
Avaldatud: Nucleic acids research 36, e75
Arrayed primer extension on in situ synthesized 5’-->3’ oligonucleotides in microchannels.
Avaldatud: New biotechnology 25, 133-41
Arrayed primer extension reaction for genotyping on oligonucleotide microarray.
Avaldatud: Methods in molecular biology (Clifton, N.J.) 444, 161-7
Androgen receptor gene haplotype is associated with male infertility.
Avaldatud: International journal of andrology 31, 395-402
Thiopurine S-methyltransferase (TPMT) pharmacogenetics: three new mutations and haplotype analysis in the Estonian population.
Avaldatud: Clinical chemistry and laboratory medicine : CCLM / FESCC 46, 974-9
Aromatase gene (CYP19A1) allele variants are essential to controlled ovarian hyperstimulation outcome
Avaldatud: RBMOnline, Volume 17, No 3
2007 (2)
Allelic estrogen receptor 1 (ESR1) gene variants predict the outcome of ovarian stimulation in in vitro fertilization.
Avaldatud: Molecular human reproduction 13, 521-6
Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.
Avaldatud: BMC genomics 8, 282
2005 (1)
L''Estonie parie sur les biotechnologies.
Avaldatud: Biofutur 257: 51-54
2004 (2)
[The Estonian Genome Project in the context of European genome research]
Avaldatud: Deutsche medizinische Wochenschrift (1946) 129 Suppl , S25-8
The Estonian Genome Project.
Avaldatud: Drug Development Research 62, 97-101
2002 (2)
Estonian Genome Project--before the take-off and take-off.
Avaldatud: Bioinformatics (Oxford, England) 18 Suppl 2, S152
Comment to: Pálsson, G. and Hardardóttir "For Whom the Cell Tolls"
Avaldatud: Current Anthropology 43, 2