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List of works by Andres Metspalu

1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

scientific article

52 Genetic Loci Influencing Myocardial Mass

scientific article

A 5S rRNA/L5 complex is a precursor to ribosome assembly in mammalian cells

scientific article

A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma

scientific article published on 10 June 2011

A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila

scientific article

A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure

scientific article

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

scientific article published on 24 March 2017

A bovine papillomavirus-1 based vector restores the function of the low-density lipoprotein receptor in the receptor-deficient CHO-ldlA7 cell line

scientific article

A bovine papillomavirus-1 based vector restores the function of the low-density lipoprotein receptor in the receptor-deficient CHO-ldlA7 cell line: Correction

scientific article

A catalog of genetic loci associated with kidney function from analyses of a million individuals

scientific article published on 31 May 2019

A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity

scientific article published on 20 February 2014

A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease

scientific article

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

A first update on mapping the human genetic architecture of COVID-19

scientific article published on 3 August 2022

A first-generation linkage disequilibrium map of human chromosome 22

scientific article published in Nature

A genome-wide analysis of populations from European Russia reveals a new pole of genetic diversity in northern Europe

scientific article published in 2013

A genome-wide association study of early menopause and the combined impact of identified variants

scientific article published on 9 January 2013

A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma

scientific article

A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium

scientific article

A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol

scientific article

A meta-analysis of gene expression signatures of blood pressure and hypertension

scientific article (publication date: March 2015)

A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip

scientific article

A metabolic profile of all-cause mortality risk identified in an observational study of 44,168 individuals

scientific article published on 20 August 2019

A metabolic view on menopause and ageing

scientific article published on 21 August 2014

A missense mutation in DUSP6 is associated with Class III malocclusion

scientific article published on 21 August 2013

A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure

scientific article published on 10 April 2019

A novel snoRNA (U73) is encoded within the introns of the human and mouse ribosomal protein S3a genes

scientific article

A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia

scientific article published on 26 November 2010

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

scientific article published on 23 November 2016

A recent bottleneck of Y chromosome diversity coincides with a global change in culture

scientific article

A variant in MCF2L is associated with osteoarthritis

scientific article

A whole-blood transcriptome meta-analysis identifies gene expression signatures of cigarette smoking

scientific article

Adiposity as a cause of cardiovascular disease: a Mendelian randomization study

scientific article

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

scientific article published on 23 February 2015

Age-related profiling of DNA methylation in CD8+ T cells reveals changes in immune response and transcriptional regulator genes

scientific article published on 19 August 2015

Ageing with elegans: a research proposal to map healthspan pathways

scientific article published on 4 April 2016

Alcohol-related cancers and genetic susceptibility in Europe: the ARCAGE project: study samples and data collection

scientific article

Allelic estrogen receptor 1 (ESR1) gene variants predict the outcome of ovarian stimulation in in vitro fertilization

scientific article

An Analysis of Two Genome-wide Association Meta-analyses Identifies a New Locus for Broad Depression Phenotype

scientific article published on 8 December 2016

An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans

scientific article published on 31 May 2017

An epigenome-wide association study of metabolic syndrome and its components

scientific article published on 25 November 2020

An evaluation of the performance of tag SNPs derived from HapMap in a Caucasian population

scientific article

An interaction map of circulating metabolites, immune gene networks, and their genetic regulation

scientific article

Analysis of SNP profiles in patients with major depressive disorder

scholarly article by Sulev Kõks et al published April 2006 in The International Journal of Neuropsychopharmacology

Analysis of allele and haplotype diversity across 25 genomic regions in three Eastern European populations

scientific article published in April 2009

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci

scientific article

Analysis of polymorphisms in the SRD5A2 gene and semen parameters in Estonian men.

scientific article published on 19 November 2009

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence

scientific article

Aromatase gene (CYP19A1) variants, female infertility and ovarian stimulation outcome: a preliminary report.

scientific article published in May 2009

Arrayed primer extension on in situ synthesized 5'-->3' oligonucleotides in microchannels

scientific article

Arrayed primer extension reaction for genotyping on oligonucleotide microarray.

scientific article

Arrayed primer extension resequencing of mutations in the TP53 tumor suppressor gene: comparison with denaturing HPLC and direct sequencing

scientific article published on July 2005

Assessment of osteoarthritis candidate genes in a meta-analysis of nine genome-wide association studies

scientific article

Association analyses based on false discovery rate implicate new loci for coronary artery disease ⬇️

scientific article published on 17 July 2017

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

scientific article (publication date: November 2010)

Association between a 15q25 gene variant, smoking quantity and tobacco-related cancers among 17 000 individuals

scientific article

Association of Chromosome 9p21 With Subsequent Coronary Heart Disease Events

scientific article published on 21 March 2019

Association of Whole-Genome and NETRIN1 Signaling Pathway–Derived Polygenic Risk Scores for Major Depressive Disorder and White Matter Microstructure in the UK Biobank

scholarly article by Miruna C. Barbu et al published July 2018 in Biological Psychiatry: Cognitive Neuroscience and Neuroimaging

Association of adiposity genetic variants with menarche timing in 92,105 women of European descent

scientific article published on 04 April 2013

Association of branched-chain amino acids and other circulating metabolites with risk of incident dementia and Alzheimer's disease: A prospective study in eight cohorts

scientific article published on 28 February 2018

Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use

scientific article published on 14 January 2019

Association study of 90 candidate gene polymorphisms in panic disorder

scientific article

Association study of sporadic Parkinson's disease genetic risk factors in patients from Russia by APEX technology

scientific article published on 28 July 2006

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022

scientific article published on 01 November 2019

Autosomal genetic control of human gene expression does not differ across the sexes

scientific article published on December 2016

BBMRI-ERIC as a resource for pharmaceutical and life science industries: the development of biobank-based Expert Centres

scientific article

BRCA1 mutations in women with familial or early-onset breast cancer and BRCA2 mutations in familial cancer in Estonia

scientific article

Biomarker profiling by nuclear magnetic resonance spectroscopy for the prediction of all-cause mortality: an observational study of 17,345 persons

scientific article

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

scientific article published on 29 September 2017

Cell Specific eQTL Analysis without Sorting Cells

scientific article published on 8 May 2015

Cell specific eQTL analysis without sorting cells

Chronotype and sleep duration: the influence of season of assessment

scientific article published on 28 March 2014

Circulating metabolic biomarkers of renal function in diabetic and non-diabetic populations

scientific article published in Scientific Reports

Circulating metabolites and general cognitive ability and dementia: Evidence from 11 cohort studies

scientific article

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

scientific article published on 2 March 2016

Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene

scientific article (publication date: 26 February 2014)

Cohort Profile: Estonian Biobank of the Estonian Genome Center, University of Tartu

scientific article

Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci

scientific journal article

Common variants associated with plasma triglycerides and risk for coronary artery disease

scientific article

Common variants in KCNN3 are associated with lone atrial fibrillation

scientific article

Common variants in Mendelian kidney disease genes and their association with renal function

scientific article published on 12 September 2013

Comparison of DNA extraction methods for multiplex polymerase chain reaction.

scientific article

Complementary seminovaginal microbiome in couples

scientific article published on 11 April 2015

Comprehensive Meta-analysis of MicroRNA Expression Using a Robust Rank Aggregation Approach

article

Comprehensive Multiple eQTL Detection and Its Application to GWAS Interpretation

scientific article published on 22 May 2019

Comprehensive catalog of European biobanks

scientific article published on 8 September 2011

Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms

scientific article published on 28 December 2016

Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms

Constraints on eQTL Fine Mapping in the Presence of Multisite Local Regulation of Gene Expression

scientific article published on 9 June 2017

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

scientific article

Copper metabolism domain-containing 1 represses genes that promote inflammation and protects mice from colitis and colitis-associated cancer

scientific article

Copy Number Variations and Cognitive Phenotypes in Unselected Populations

Copy number variations and cognitive phenotypes in unselected populations

scientific article

Correction: A Genome-Wide Association Study of Upper Aerodigestive Tract Cancers Conducted within the INHANCE Consortium.

scientific article published on 26 April 2011

Correction: Genetic Structure of Europeans: A View from the North–East.

scientific article

Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

scientific article published on 23 August 2017

Correction: Methylation Markers of Early-Stage Non-Small Cell Lung Cancer

scientific article published on 20 January 2017

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

scientific article

Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

scientific article published on 26 May 2017

Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

scientific article published on November 2016

Corrigendum: Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk

scientific article published in September 2017

Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

scientific article published on 30 March 2015

Corrigendum: Rare coding variants and X-linked loci associated with age at menarche

scientific article published on 17 December 2015

CpG sites associated with NRP1, NRXN2 and miR-29b-2 are hypomethylated in monocytes during ageing

scientific article published on 09 January 2014

Cumulative Small Effect Genetic Markers and the Risk of Colorectal Cancer in Poland, Estonia, Lithuania, and Latvia

scientific article published on 26 May 2015

DNA breaks and chromatin structural changes enhance the transcription of autoimmune regulator target genes

scientific article published on 27 February 2017

DNA mismatch repair gene MSH6 implicated in determining age at natural menopause

scientific article published on 19 December 2013

Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes

scientific article

De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders

scientific article

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion

scientific article published on 3 December 2015

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

article published in 2017

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

scientific article

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

scientific article published on 2 December 2015

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

scientific article

Demographic associations for autoantibodies in disease-free individuals of a European population

scientific article published on 28 March 2017

Design of a peptide-based vector, PepFect6, for efficient delivery of siRNA in cell culture and systemically in vivo

scientific article

Development and validation of two SCORE-based cardiovascular risk prediction models for Eastern Europe: a multicohort study

scientific article published on 01 September 2020

Development of a single tube 640-plex genotyping method for detection of nucleic acid variations on microarrays

scientific article published on 5 June 2008

Differences in local population history at the finest level: the case of the Estonian population

scientific article published on 25 July 2020

Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome

scientific article published in 2021

Directional dominance on stature and cognition in diverse human populations

scientific article published in July 2015

Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation

scientific article

Discovery and refinement of loci associated with lipid levels

scientific article

Distribution and medical impact of loss-of-function variants in the Finnish founder population

scientific article

Dominance genetic variation contributes little to the missing heritability for human complex traits

scientific article

Effects of metformin on metabolite profiles and LDL cholesterol in patients with type 2 diabetes

scientific article published on 5 August 2015

Elevated incidence of chromosomally chaotic embryos among frozen-thawed preimplantation embryos

scientific article published on 01 May 2004

Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci

scientific article published on 5 May 2015

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

scientific article published on 09 October 2015

Erratum: Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms and neuroticism identified through genome-wide analyses

article

Erratum: Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

scientific article published in October 2016

Erratum: Corrigendum: Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

scholarly article published in Nature Genetics

Erratum: Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

article

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

scientific article published in November 2011

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

scientific article published on 23 January 2018

Estimating the performance of three cardiovascular disease risk scores: the Estonian Biobank cohort study

scientific article published on 11 January 2019

Estonian Genome Project--before the take-off and take-off

scientific article

Evaluating the arrayed primer extension resequencing assay of TP53 tumor suppressor gene

scientific article

Evaluating the performance of commercial whole-genome marker sets for capturing common genetic variation

scientific article

Evaluation of the 124-plex SNP typing microarray for forensic testing.

scientific article

Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women

scientific article

Evidence of inbreeding depression on human height

scientific article

Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits

scientific article

Exome analysis in an Estonian multiplex family with neural tube defects-a case report

scientific article

Exome-wide association study of plasma lipids in >300,000 individuals

scientific article published on 30 October 2017

Extensive alterations of the whole-blood transcriptome are associated with body mass index: results of an mRNA profiling study involving two large population-based cohorts

scientific article published on 15 October 2015

FTO genotype is associated with phenotypic variability of body mass index

scientific article published on 16 September 2012

Feasibility of innovative dietary assessment in epidemiological studies using the approach of combining different assessment instruments

scientific article

Feasibility of innovative dietary assessment in epidemiological studies using the approach of combining different assessment instruments – Corrigendum

scholarly article by Anne-Kathrin Illner et al published 5 May 2011 in Public Health Nutrition

Fibrinogen beta variants confer protection against coronary artery disease in a Greek case-control study

scientific article

Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

scientific article published on 08 October 2018

From pharmacogenetics to pharmacometabolomics: SAM modulates TPMT activity

scientific article published in August 2014

GWAS of 126,559 individuals identifies genetic variants associated with educational attainment

scientific article published on 21 June 2013

Gene Expression-Based Approaches in Differentiation of Metastases and Second Primary Tumour

scientific article published on 21 July 2010

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

article

Gene expression profiles of non-small cell lung cancer: survival prediction and new biomarkers.

scientific article

Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci

scientific article published on 05 May 2020

Genes reveal traces of common recent demographic history for most of the Uralic-speaking populations

article

Genes, technology and public dialogue in Tartu, Estonia

scientific article published on 01 February 2002

Genetic Predisposition to Coronary Artery Disease in Type 2 Diabetes Mellitus

scientific article published on 13 August 2020

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scientific article published on 17 September 2018

Genetic analysis of over one million people identifies 535 novel loci for blood pressure

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

scientific article

Genetic associations of 115 polymorphisms with cancers of the upper aerodigestive tract across 10 European countries: the ARCAGE project

scientific article

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

scientific article

Genetic correlations reveal the shared genetic architecture of transcription in human peripheral blood

scientific article published on 7 September 2017

Genetic evidence of assortative mating in humans

article

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

scientific article

Genetic influence on social outcomes during and after the Soviet era in Estonia

scholarly article by Kaili Rimfeld et al published April 2018 in Nature Human Behaviour

Genetic structure of Europeans: a view from the North-East

scientific article

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

scientific article

Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index

scientific article

Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

scientific article published on 18 April 2016

Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate

scientific article published in September 2010

Genetic variants in RBFOX3 are associated with sleep latency

scientific article

Genetic variants linked to education predict longevity

scientific article (publication date: 22 November 2016)

Genetic variants of inducible costimulator are associated with allergic asthma susceptibility

scientific article published on 7 August 2014

Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records

scientific article published on 12 November 2018

Genetic variations in vascular endothelial growth factor but not in angiotensin I-converting enzyme genes are associated with endometriosis in Estonian women

article

Genetically determined height and coronary artery disease

scientific article

Genetics of rheumatoid arthritis contributes to biology and drug discovery

scientific article

Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci.

scientific article

Genome-Wide Association Scan of Serum Urea in European Populations Identifies Two Novel Loci

scientific article published on 26 February 2019

Genome-Wide Association Study Reveals First Locus for Anorexia Nervosa and Metabolic Correlations

scholarly article

Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length

scientific article published on 27 February 2020

Genome-wide Study Identifies Association between HLA-B∗55:01 and Self-Reported Penicillin Allergy

scientific article published on 26 August 2020

Genome-wide analysis identifies 12 loci influencing human reproductive behavior

scientific article

Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course

scientific article published on 12 May 2013

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

scientific article published in February 2013

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

scientific article published on 26 April 2018

Genome-wide association analyses in >119,000 individuals identifies thirteen morningness and two sleep duration loci

Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention ⬇️

scientific article published on 7 September 2022

Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.

scientific article published on 30 January 2017

Genome-wide association and functional follow-up reveals new loci for kidney function

scientific article

Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption

scientific journal article

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

scientific article published on 28 May 2018

Genome-wide association meta-analysis of fish and EPA+DHA consumption in 17 US and European cohorts.

scientific article published on 13 December 2017

Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.

scientific article

Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci

scientific article published on 28 September 2017

Genome-wide association study identifies 30 loci associated with bipolar disorder.

scientific article

Genome-wide association study identifies 48 common genetic variants associated with handedness

scientific article published on 28 September 2020

Genome-wide association study identifies 74 loci associated with educational attainment

scientific article published on 11 May 2016

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.

scientific article

Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels

scientific article

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

scientific article

Genome-wide association study of panic disorder reveals genetic overlap with neuroticism and depression

scientific article published on 11 November 2019

Genome-wide genetic homogeneity between sexes and populations for human height and body mass index

scientific article published on 22 October 2015

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

scientific article

Genome-wide meta-analysis associates HLA-DQA1/DRB1 and LPA and lifestyle factors with human longevity

scientific article published on 13 October 2017

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

scientific journal article

Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption

scientific article

Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

scientific article

Genome-wide meta-analysis of common variant differences between men and women

scientific article published on 27 July 2012

Genome-wide meta-analysis of psoriatic arthritis identifies susceptibility locus at REL

scientific journal article

Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

scientific article published on 27 April 2017

Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.

scientific article published on 23 March 2016

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

scientific article

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

scientific article published on 23 September 2016

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

scientific article published on 24 April 2017

Genomic analyses inform on migration events during the peopling of Eurasia

scientific article (publication date: 13 October 2016)

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

scientific article published on 8 August 2017

Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances

Genotype-covariate interaction effects and the heritability of adult body mass index

scientific article published on 10 July 2017

Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants

scientific article published on 23 November 2020

Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations

scientific article published on August 2005

Giving and withholding of information following genomic screening: challenges identified in a study of primary care physicians in Estonia

scientific article published on 8 December 2011

Global implementation of genomic medicine: We are not alone

scientific article

HGV2009 meeting: bigger and better studies provide more answers and more questions

scientific article published on July 2010

Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland

scholarly article by Alicia R Martin et al published 3 May 2018 in American Journal of Human Genetics

Haplotype phasing and inheritance of copy number variants in nuclear families

scientific article published on 8 April 2015

Harmonising and linking biomedical and clinical data across disparate data archives to enable integrative cross-biobank research

scientific article

Hemani et al. reply

scientific article published on October 2014

Hidden heritability due to heterogeneity across seven populations

scientific article published on 11 September 2017

High carrier frequency of the 35delG deafness mutation in European populations

article published in 2000

High-density genotyping and linkage disequilibrium in the human genome using chromosome 22 as a model

scientific article

History of the Diagnosis of a Sexually Transmitted Disease is Linked to Normal Variation in Personality Traits

Human basonuclin 2 up-regulates a cascade set of interferon-stimulated genes with anti-cancerous properties in a lung cancer model

scientific article published on 06 February 2017

Human disease-associated genetic variation impacts large intergenic non-coding RNA expression

scientific article

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

scientific article

Human ribosomal protein S3a: cloning of the cDNA and primary structure of the protein

scientific article

Hundreds of variants clustered in genomic loci and biological pathways affect human height

scientific article

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

scientific article

Identification of ALK in Thinness

scientific article published on 13 May 2020

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

scientific article published on 14 April 2013

Identification of lung cancer histology-specific variants applying Bayesian framework variant prioritization approaches within the TRICL and ILCCO consortia

scientific article

Identification of miR-374a as a prognostic marker for survival in patients with early-stage nonsmall cell lung cancer

scientific article

Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study ⬇️

scientific article published on July 3, 2012

Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis

scientific article

Identification of seven loci affecting mean telomere length and their association with disease

scientific article published on April 2013

Identifying pathways modulating sleep duration: from genomics to transcriptomics

scientific article

Imprinted genes and imprinting control regions show predominant intermediate methylation in adult somatic tissues

scientific article published on 23 March 2016

Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel

scientific article

Improved polygenic prediction by Bayesian multiple regression on summary statistics

scientific article published on 08 November 2019

In-solution hybrid capture of bisulfite-converted DNA for targeted bisulfite sequencing of 174 ADME genes

scientific article

Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls

scientific article

Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study

scientific article

Integrating untargeted metabolomics, genetically informed causal inference, and pathway enrichment to define the obesity metabolome

scientific article published on 28 May 2020

Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function

scientific article published on 8 September 2012

Interaction Testing and Polygenic Risk Scoring to Estimate the Association of Common Genetic Variants With Treatment Resistance in Schizophrenia

scientific article

Is the adiposity-associated FTO gene variant related to all-cause mortality independent of adiposity? Meta-analysis of data from 169,551 Caucasian adults

scientific article published on 5 March 2015

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

scientific article

Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants

scientific article

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

scientific article published in December 2015

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

scientific article

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

scientific article published on 02 December 2012

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

scientific article

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

scientific article published in November 2015

Leukocyte telomere length associates with prospective mortality independent of immune-related parameters and known genetic markers

scientific article

Leveraging European infrastructures to access 1 million human genomes by 2022

scientific article published on 27 August 2019

Linkage disequilibrium patterns and tagSNP transferability among European populations

scientific article

Linking a population biobank with national health registries-the estonian experience

scientific article

Locations of several novel 2'-O-methylated nucleotides in human 28S rRNA

scientific article

Longevity candidate genes and their association with personality traits in the elderly

scientific article

Lung cancer and DNA repair genes: multilevel association analysis from the International Lung Cancer Consortium

scientific article published in March 2012

MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate

scientific article published on June 2010

Manhattan Harvester and Cropper: a system for GWAS peak detection

scientific article published on 11 January 2019

Manifesto for a European anxiety disorders research network

scientific article published on 30 March 2010

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

scientific article published on 8 April 2022

Mapping the genetic architecture of gene regulation in whole blood

scientific article

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

scientific article

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

scientific article

Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance

scientific article published on 23 July 2014

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

scientific article

Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium

scientific article published on 11 September 2015

Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder

scientific article

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

scientific article published on 29 March 2016

Meta-analysis of microRNA expression in lung cancer

scientific article published on 27 December 2012

Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci

scientific article published on 07 January 2019

Metabolites of milk intake: a metabolomic approach in UK twins with findings replicated in two European cohorts.

scientific article published on 28 July 2016

Metabolomics reveals a link between homocysteine and lipid metabolism and leukocyte telomere length: the ENGAGE consortium

scientific article published on 12 August 2019

Metagenes associated with survival in non-small cell lung cancer

scientific article

Methylation markers of early-stage non-small cell lung cancer

scientific article

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

scientific article

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

scientific article

MixFit: Methodology for Computing Ancestry-Related Genetic Scores at the Individual Level and Its Application to the Estonian and Finnish Population Studies

scientific article

Modulation of genetic associations with serum urate levels by body-mass-index in humans

scientific article

Molecular diagnosis of Down syndrome using quantitative APEX-2 microarrays

scientific article published in December 2010

Multi-Ancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions

Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids

article

Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration

scientific article published on 12 November 2019

Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity

scientific article published in Nature Communications

New gene functions in megakaryopoiesis and platelet formation

scientific article published on 30 November 2011

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

scientific article

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error

scientific article

No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis ⬇️

scientific article published on 12 October 2016

Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA).

scientific article published on 19 April 2013

Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant

scientific article published on 18 July 2018

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney

scientific article

Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index

scientific article

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

scientific article published on 18 June 2018

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

scientific article

Nuclear import and nucleolar accumulation of the human ribosomal protein S7 depends on both a minimal nuclear localization sequence and an adjacent basic region

scientific article published on August 1998

Occupational irritants and asthma: an Estonian cross-sectional study of 34,000 adults

scientific article

Oligonucleotide Array for Mutation Analysis in Familial Breast Cancer

scientific article published in January 1999

Ontogeny, distribution and potential roles of 5-hydroxymethylcytosine in human liver function

scientific article published on 19 August 2013

Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples

scientific article

Oral health, dental care and mouthwash associated with upper aerodigestive tract cancer risk in Europe: the ARCAGE study

scientific article published on 27 March 2014

PAIRUP-MS: Pathway analysis and imputation to relate unknowns in profiles from mass spectrometry-based metabolite data

scientific article published on 14 January 2019

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

scientific article

Pathogenic implications for autoimmune mechanisms derived by comparative eQTL analysis of CD4+ versus CD8+ T cells

scientific article

Peripheral gene expression profiling of CCK-4-induced panic in healthy subjects

scientific article published in January 2010

Personality traits and eating habits in a large sample of Estonians

scientific article published on 23 January 2012

Personalized early detection and prevention of breast cancer: ENVISION consensus statement

scientific article published on 18 June 2020

Personalized risk prediction for type 2 diabetes: the potential of genetic risk scores

scientific article published on 11 August 2016

Polygenic prediction of breast cancer: comparison of genetic predictors and implications for risk stratification

scientific article published on 10 June 2019

Polymorphic variation in TPMT is the principal determinant of TPMT phenotype: A meta-analysis of three genome-wide association studies

scientific article

Polymorphisms in MMP-2 and MMP-9 promoter regions are associated with endometriosis

scientific article published on 25 January 2010

Polymorphisms in wolframin (WFS1) gene are possibly related to increased risk for mood disorders

Polymorphisms inESR1,ESR2andHSD17B1genes are associated with fertility status in endometriosis

article

Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649).

scientific article

Population genetic differentiation of height and body mass index across Europe

scientific article

Post-translational stabilization of thiopurine S-methyltransferase by S-adenosyl-L-methionine reveals regulation of TPMT*1 and *3C allozymes

scientific article

Propelling Health Care into the Twenties

scientific article published on 27 May 2020

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

scientific article published in Nature Communications

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

scientific article published on 01 April 2020

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scholarly article published in Nature Genetics

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

erratum

Publisher Correction: Personalized early detection and prevention of breast cancer: ENVISION consensus statement

scientific article published on 29 June 2020

Quality Matters: 2016 Annual Conference of the National Infrastructures for Biobanking

scientific article

Quality, quantity and harmony: the DataSHaPER approach to integrating data across bioclinical studies

scientific article

RETRACTED ARTICLE: Detection and replication of epistasis influencing transcription in humans

retracted scholarly article

ROS1 Asp2213Asn polymorphism is not associated with coronary artery disease in a Greek case-control study

scientific article published in January 2009

Ranking and characterization of established BMI and lipid associated loci as candidates for gene-environment interactions

scientific article

Rare and low-frequency coding variants alter human adult height

scientific article (publication date: February 2017)

Rare coding variants and X-linked loci associated with age at menarche

scientific article

Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity

scientific article

Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

scientific journal article

Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia

scientific article published on 01 October 2018

Reconstructing the population history of European Romani from genome-wide data

scientific article

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

article

Refining genome-wide linkage intervals using a meta-analysis of genome-wide association studies identifies loci influencing personality dimensions

scientific article published on 05 December 2012

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

scientific article published on 9 April 2018

Reliable detection of beta-thalassemia and G6PD mutations by a DNA microarray

scientific article published on 01 November 2002

Replication and meta-analysis of TMEM132D gene variants in panic disorder

scientific article published on 4 September 2012

Replication of novel susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 in Estonian and Lithuanian patients

article published in 2009

Reporting incidental findings of genomic disorder-associated copy number variants to unselected biobank participants

scientific article published on 14 June 2016

Roadmap for a precision-medicine initiative in the Nordic region

scientific article published on 01 June 2019

SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function

scientific article published on 5 December 2016

Search for Early Pancreatic Cancer Blood Biomarkers in Five European Prospective Population Biobanks Using Metabolomics

scientific article published on 01 July 2019

Selection for genetic variation inducing pro-inflammatory responses under adverse environmental conditions in a Ghanaian population

scientific article

Self-Other Agreement in Happiness and Life-Satisfaction: The Role of Personality Traits

scholarly article by Henrik Dobewall et al published 27 September 2012 in Social Indicators Research

Sequence Variants and the Risk of Head and Neck Cancer: Pooled Analysis in the INHANCE Consortium

scientific article

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

scientific article published on 19 December 2017

Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior

scientific article

Sequence variation in nuclear ribosomal small subunit, internal transcribed spacer and large subunit regions of Rhizophagus irregularis and Gigaspora margarita is high and isolate-dependent

scientific article published on 19 April 2016

Serotonin transporter promoter region polymorphisms do not influence treatment response to escitalopram in patients with major depression

scientific article published on 9 March 2009

Seventy-five genetic loci influencing the human red blood cell

scientific article published on 5 December 2012

Severe CF manifestation with anaemia and failure to thrive in a 394delTT homozygous patient.

scientific article

Sex- and age-interacting eQTLs in human complex diseases

scientific article

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

scientific article

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

scientific article published on 16 February 2020

Signatures of negative selection in the genetic architecture of human complex traits

scientific article published on 16 April 2018

Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up

scientific article published in September 2006

Structural characterization of the mouse ribosomal protein S6-encoding gene

scientific article published in October 1996

Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity

scientific article

Structure and expression of the genes coding for human alpha 1-acid glycoprotein

scientific article

Subsequent Event Risk in Individuals With Established Coronary Heart Disease

scientific article published on 21 March 2019

Susceptibility locus for non-syndromic cleft lip with or without cleft palate on chromosome 10q25 confers risk in Estonian patients

scientific article

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease ⬇️

scientific article published on February 2017

Systematic identification of trans eQTLs as putative drivers of known disease associations

scientific article (publication date: October 2013)

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

scientific article published on 02 October 2019

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

scientific article published on March 2002

The DOT1L rs12982744 polymorphism is associated with osteoarthritis of the hip with genome-wide statistical significance in males

scientific article published on 16 March 2013

The Estonian Genome Project

The Genetic Architecture of Gene Expression in Peripheral Blood

scientific article published on 24 December 2016

The Genetic Architecture of Gene Expression in Peripheral Blood

scientific article published in February 2017

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

scientific article

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition

scientific article published on 10 November 2015

The association between lower educational attainment and depression owing to shared genetic effects? Results in ~25,000 subjects

scientific article published in June 2015

The effect of X-linked dosage compensation on complex trait variation

scientific article published on 08 July 2019

The genetic architecture of sporadic and multiple consecutive miscarriage

scientific article published on 25 November 2020

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

The genetic association between personality and major depression or bipolar disorder. A polygenic score analysis using genome-wide association data

scientific article

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

scientific article published on 12 September 2016

The human ribosomal protein S6 gene: isolation, primary structure and location in chromosome 9

scientific article published on November 16, 1992

The human ribosomal protein S6 gene: isolation, primary structure and location in chromosome 9.

scientific article published in May 1993

The human ribosomal protein S7-encoding gene: isolation, structure and localization in 2p25

scientific article

The impact of low-frequency and rare variants on lipid levels

scientific article published on 11 May 2015

The prevalence of metabolic syndrome and metabolically healthy obesity in Europe: a collaborative analysis of ten large cohort studies

scientific article

The relationship between the Five-Factor Model personality traits and peptic ulcer disease in a large population-based adult sample.

scientific article published on 6 October 2015

The role of COX-2 and Nrf2/ARE in anti-inflammation and antioxidative stress: Aging and anti-aging

scientific article published on 06 May 2011

The role of adiposity in cardiometabolic traits: a Mendelian randomization analysis

scientific article (publication date: 2013)

The transcriptional landscape of age in human peripheral blood

scientific article

Thiopurine S-methyltransferase (TPMT) pharmacogenetics: three new mutations and haplotype analysis in the Estonian population

scientific article

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

scientific article

Toward a roadmap in global biobanking for health

scientific article (publication date: November 2012)

Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation

scientific article

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

scientific article published on 12 September 2016

U82, a novel snoRNA identified from the fifth intron of human and mouse nucleolin gene

scientific article (publication date: 3 September 1999)

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

scientific article published on 03 October 2016

Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements

scientific article

Using RNA sequencing for identifying gene imprinting and random monoallelic expression in human placenta

scientific article

Variance determines self-observer agreement on the Big Five personality traits

article published in 2010

Variation in FGF1, FOXE1, and TIMP2 genes is associated with nonsyndromic cleft lip with or without cleft palate

scientific article published on 01 April 2011

Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis

article

Whole-exome sequencing identifies a polymorphism in the BMP5 gene associated with SSRI treatment response in major depression.

scientific article published on 7 August 2013

Whole-exome sequencing identifies a potential TTN mutation in a multiplex family with inguinal hernia

scientific article published on 26 April 2016

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta

scientific article published on 10 May 2015

Whole-genome expression analysis reveals genes associated with treatment response to escitalopram in major depression

scientific article published on 22 July 2016

Widespread signatures of negative selection in the genetic architecture of human complex traits

scholarly article published 3 June 2017

Within-trait heterogeneity in age group differences in personality domains and facets: implications for the development and coherence of personality traits

scientific article

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