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List of works by Lili Milani

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

scientific article published on 20 February 2014

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

A data-driven medication score predicts 10-year mortality among aging adults

scientific article published on 25 September 2020

A distinctive DNA methylation pattern in insufficient sleep

scientific article published in Scientific Reports

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

scientific article published on 3 August 2022

A genetics-led approach defines the drug target landscape of 30 immune-related traits

scientific article published on 28 June 2019

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

scientific article published on 9 January 2013

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 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 polymorphism in ABCB1 gene, CYP2B6*6 and sex predict single-dose efavirenz population pharmacokinetics in Ugandans

scientific article

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

scientific article published on 23 November 2016

Acute COVID-19 severity and 16-month mental morbidity trajectories in patient populations of six nations

scientific article published on 15 December 2021

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

Allele-specific expression and gene methylation in the control of CYP1A2 mRNA level in human livers

scientific article published on 10 March 2009

Allele-specific gene expression patterns in primary leukemic cells reveal regulation of gene expression by CpG site methylation

scientific article

Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells

scientific article published on 31 January 2007

An epigenome-wide association study meta-analysis of educational attainment.

scientific article

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

scientific article published on 25 November 2020

An insertion-deletion polymorphism in the interferon regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases

article

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

scientific article

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 maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

CDH13 promoter SNPs with pleiotropic effect on cardiometabolic parameters represent methylation QTLs

scientific article

Cell Specific eQTL Analysis without Sorting Cells

scientific article published on 8 May 2015

Cell specific eQTL analysis without sorting cells

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

scientific article

Comprehensive evaluation of the genetic variants of interferon regulatory factor 5 (IRF5) reveals a novel 5 bp length polymorphism as strong risk factor for systemic lupus erythematosus

article by Snaevar Sigurdsson et al published 6 December 2007 in Human Molecular Genetics

Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci

scientific article published on 09 June 2022

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

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

scientific article published on 30 March 2015

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

scientific article published on 09 January 2014

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

scientific article published on 27 February 2017

DNA methylation analysis of bone marrow cells at diagnosis of acute lymphoblastic leukemia and at remission

scientific article

DNA methylation dynamics in the hepatic CYP3A4 gene promoter

scientific article published on 31 July 2012

DNA methylation for subtype classification and prediction of treatment outcome in patients with childhood acute lymphoblastic leukemia

scientific article

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

scientific article

Detection of alternatively spliced transcripts in leukemia cell lines by minisequencing on microarrays

scientific article published on 29 December 2005

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

scientific article published on 25 July 2020

Directional dominance on stature and cognition in diverse human populations

scientific article published in July 2015

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

scientific article

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

Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity

scientific article published on 21 December 2016

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

scientific article published in October 2016

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

scientific article published on 23 January 2018

Evaluating the cardiovascular safety of sclerostin inhibition using evidence from meta-analysis of clinical trials and human genetics

scientific article published on 01 June 2020

Evidence of inbreeding depression on human height

scientific article

Expression of BCR–ABL1 oncogene relative to ABL1 gene changes overtime in chronic myeloid leukemia

article

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

scientific article published on 21 June 2013

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

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

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 and epigenetic regulation of gene expression in fetal and adult human livers

scientific article

Genetic evidence of assortative mating in humans

scholarly article

Genetic insights into biological mechanisms governing human ovarian ageing

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

scientific article published on 12 November 2018

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

scientific article published on 26 April 2018

Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss

scientific article published in 2022

Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

scientific article

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 of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

scientific article published in June 2021

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-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

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 and phenotypic insights from an atlas of genetic effects on DNA methylation

scientific article

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

scientific article published on 8 August 2017

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

scientific article published on 10 July 2017

Genotyping single nucleotide polymorphisms by multiplex minisequencing using tag-arrays

scientific article

Global frequencies of clinically important HLA alleles and their implications for the cost-effectiveness of preemptive pharmacogenetic testing

scientific article published on 14 June 2020

Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk

scholarly article by Yitian Zhou et al published October 2018 in Journal of Lipid Research

Homocysteine levels associate with subtle changes in leukocyte DNA methylation: an epigenome-wide analysis

scientific article published on 9 October 2017

Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

scientific article

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

scientific article published on 14 April 2013

Identification, Heritability, and Relation With Gene Expression of Novel DNA Methylation Loci for Blood Pressure

scientific article published on 10 June 2020

IgG glycosylation and DNA methylation are interconnected with smoking

scientific article

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

scientific article

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

scientific article

Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations

scientific article published on 19 February 2008

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

scientific article published in November 2015

Longitudinal proteomic profiling reveals increased early inflammation and sustained apoptosis proteins in severe COVID-19

scientific article published on 25 November 2020

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

scientific article published on 8 April 2022

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

scientific article

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

scientific article

Monocytes present age-related changes in phospholipid concentration and decreased energy metabolism

scientific article published on 27 February 2020

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

Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure

scientific article published in November 2021

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

article

Neuregulin signaling pathway in smoking behavior

scientific article published on 22 August 2017

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

scientific article

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 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

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

scientific article

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

scientific article published on 19 August 2013

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

Pharmacogenomic Biomarkers for Improved Drug Therapy-Recent Progress and Future Developments

scientific article published on 27 November 2017

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

scientific article

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

scientific article

Positional cloning by fast-track SNP-mapping in Drosophila melanogaster

scientific article published in January 2008

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 22 December 2017

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: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 16 March 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 01 July 2019

Rare coding variants in ten genes confer substantial risk for schizophrenia

article

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine

scientific article published on 01 September 2021

Resource Profile and User Guide of the Polygenic Index Repository

Resource profile and user guide of the Polygenic Index Repository

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

scientific article published on 19 December 2017

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

Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders

scientific article

Single base resolution analysis of 5-hydroxymethylcytosine in 188 human genes: implications for hepatic gene expression

scientific article published on 29 April 2016

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

scientific article (publication date: October 2013)

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 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 LRRK2 loss-of-function variants in humans

scientific article published on 27 May 2020

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

The individual and global impact of copy-number variants on complex human traits

scientific article published on 02 March 2022

The transcriptional landscape of age in human peripheral blood

scientific article

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

scientific article

Translating genotype data of 44,000 biobank participants into clinical pharmacogenetic recommendations: challenges and solutions

scientific article published on 16 October 2018

Translating pharmacogenomics into clinical decisions: do not let the perfect be the enemy of the good

scientific article published on 27 August 2019

Unraveling the polygenic architecture of complex traits using blood eQTL meta-analysis

scholarly article published 19 October 2018

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

scientific article

Variants in calcium voltage-gated channel subunit Alpha1 C-gene (CACNA1C) are associated with sleep latency in infants

scientific article published on 9 August 2017

Variation near MTNR1A associates with early development and interacts with seasons

scientific article published on 07 October 2019

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

scientific article published on 22 July 2016

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