PEOPLEDavid Emmert

de en it

David Emmert

Senior Researcher
Institute for Biomedicine

T +39 0471 055 489

david.emmert@eurac.edu

https://orcid.org/0000-0001-8149-1072

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About

Member of the Eurac Institute for Biomedicine Computational Genomics group, led by Christian Fuchsberger, PhD.

https://it.linkedin.com/in/david-emmert-45b3486

Scientific Publications

Journal article2025

Genome-wide association meta-analysis of human olfactory identification discovers sex-specific and sex-differential genetic variants.

Förster F, Emmert D, Horn K, Pott J, Frasnelli J, Imtiaz MA, Melas K, Talevi V,

Cristian Pattaro, Martin Gögele, Peter P. Pramstaller, David Emmert, Christian Fuchsberger

Smelling is a human sense, expressing strong sexual dimorphisms. We aim to improve the knowledge of the genetics of human olfactory perception by performing an exploratory genome-wide association meta-analysis of up to 21,495 individuals of European ancestry. By sex-stratified and overall analysis of the identification of twelve odours and an identification score, we discovered ten independent loci, seven of them novel, with trait-wise genome-wide significance (p < 5 × 10^-8) involving five odours. Seven of these loci, including four novel ones, are also significant using a stricter study-wide significance threshold (p < 3.85 × 10^-⁹). Loci were predominantly located within clusters of olfactory receptors. Two loci were female-specific while one was sex-differential with respective candidate genes containing androgen response elements. Two-sample Mendelian randomization was applied to search for causal relationships between sex hormones, odour identification and neurodegenerative diseases. A causal negative effect was detected for Alzheimer's disease on the identification score. These findings deepen our understanding of the genetic basis of olfactory perception and its interaction with sex, prioritizing mechanisms for further molecular research.

DOI

DOI: 10.1038/s41467-025-61330-y

Journal article2025

Genome-wide association study meta-analysis uncovers novel genetic variants associated with olfactory dysfunction

Imtiaz MA, Melas K, Tin A, Talevi V, Chen H, Fornage M, Shrestha S, Gögele M,

Cristian Pattaro, Martin Gögele, Peter P. Pramstaller, David Emmert, Christian Fuchsberger

Background: Olfactory dysfunction is among the earliest signs of many age-related neurodegenerative diseases and has been associated with increased mortality in older adults; however, its genetic basis remains largely unknown. Therefore, here we aimed to elucidate its genetic architecture through a genome-wide association study meta-analysis (GWMA).

Methods: This GWMA included the participants of European ancestry (N = 22,730) enrolled in four different large population-based studies followed by a multi-ancestry GWMA including participants of African ancestry (N = 1,030). Olfactory dysfunction was assessed using a 12-item smell identification test.

Results: GWMA revealed a novel genome-wide significant locus (tagged by single nucleotide polymorphism rs11228623 at the 11q12 locus) associated with olfactory dysfunction. Gene-based analysis revealed a high enrichment for olfactory receptor genes in this region. Phenome-wide association studies demonstrated associations between genetic variants related to olfactory dysfunction and blood cell counts, kidney function, skeletal muscle mass, cholesterol levels and cardiovascular disease. Using individual-level data, we also confirmed and quantified the strength of these associations on a phenotypic level. Moreover, employing two-sample Mendelian Randomization analyses, we found evidence for causal associations between olfactory dysfunction and these phenotypes.

Conclusions: Our findings provide novel insights into the genetic architecture of the sense of smell and highlight its importance for many aspects of human health. Moreover, these findings could facilitate the identification and monitoring of individuals at increased risk of olfactory dysfunction and associated diseases.

DOI Source

DOI: 10.1186/s12863-025-01360-z

Journal article2025

Systematic mediation and interaction analyses of kidney function genetic loci in a general population study

Ghasemi-Semeskandeh D, Emmert D, König E, Foco L, Gögele M, Sarhan MS, Barin L, Fujii R,

Cristian Pattaro, Martin Gögele, Luisa Foco, Peter P. Pramstaller, David Emmert, Christian Fuchsberger, Eva König, Mohamed Sarhan

Project: Multidisciplinary Training in Chronic Kidney Disease: from genetic modifiers to drug discovery

Chronic kidney disease (CKD) is a complex disease affecting >10% of the global population, with large between- and within-continent variability reflecting major environmental determinants. To identify molecular targets for treatment and prevention, genome-wide association study meta-analyses (GWAMAs) of CKD-defining traits have identified hundreds of genetic loci in aggregated population samples. However, while GWAMAs estimate the average allelic effect across studies, single population studies may be relevant to unravel specific mechanisms. To assess whether a study sample from a specific population could extend existing knowledge on kidney function genetics, we selected 147 kidney function relevant loci identified by a large GWAMA, assessing their association with the glomerular filtration rate estimated from serum creatinine (eGFRcrea) in 10,146 participants to the Cooperative Health Research In South Tyrol (CHRIS) study, conducted in an Alpine region where thyroid dysfunction is common. We identified associations with single nucleotide polymorphisms (SNPs) at 11 loci, showing up-to-5.4 times larger effect sizes than in the corresponding GWAMA, not explainable by allele frequency differences. Systematic mediation analysis across 70 quantitative traits identified serum magnesium and the activated partial thromboplastin time as partial mediators of the eGFRcrea associations at SHROOM3 and SLC34A1, respectively. Given that free triiodothyronine and thyroxine acted as effect modifiers across all loci, we conducted SNP-by-thyroid stimulating hormone (TSH) interaction analyses, identifying significant interactions at STC1: SNPs had larger effects on eGFRcrea at higher TSH levels, possibly reflecting stanniocalcin-1 autocrine and paracrine role. Individual population studies can help characterize genetic associations. The interplay between phenotypes at SHROOM3 and SLC34A1 and the role of thyroid function as a genetic effect modifier warrant further investigations.

DOI

DOI: 10.1371/journal.pone.0323057

Journal article2024

Factors influencing olfactory function in an adult general population sample: the CHRIS study

Gögele M, Emmert D, Fuchsberger C, Frasnelli J

Martin Gögele, David Emmert, Christian Fuchsberger

The sense of smell allows for the assessment of the chemical composition of volatiles in our environment. Different factors are associated with reduced olfactory function, including age, sex, as well as health and lifestyle conditions. However, most studies that aimed at identifying the variables that drive olfactory function in the population suffered from methodological weaknesses in study designs and participant selection, such as the inclusion of convenience sample or only of certain age groups, or recruitment biases. We aimed to overcome these issues by investigating the Cooperative Health Research in South Tyrol (CHRIS) cohort, a population-based cohort, by using a validated odor identification test. Specifically, we hypothesized that a series of medical, demographic and lifestyle variables is associated with odor identification abilities. In addition, our goal was to provide clinicians and researchers with normative values for the Sniffin' Sticks identification set, after exclusion of individuals with impaired nasal patency. We included 6,944 participants without acute nasal obstruction and assessed several biological, social, and medical parameters. A basic model determined that age, sex, years of education, and smoking status together explained roughly 13% of the total variance in the data. We further observed that variables related to medical (positive screening for cognitive impairment and for Parkinson's disease, history of skull fracture, stage 2 hypertension) and lifestyle (alcohol abstinence) conditions had a negative effect on odor identification scores. Finally, we provide clinicians with normative values for both versions of the Sniffin' Sticks odor identification test, i.e. with 16 items and with 12 items.

DOI Source

DOI: 10.1093/chemse/bjae011

Internet2024

Genome-Wide Association Study Meta-Analysis Uncovers Novel Genetic Variants Associated with Olfactory Dysfunction [preprint]

Imtiaz MA, Melas K, Tin A, Talevi V, Chen H, Fornage M, Shrestha S, Gögele M,

Cristian Pattaro, Martin Gögele, Peter P. Pramstaller, David Emmert, Christian Fuchsberger

IMPORTANCE
Olfactory dysfunction is among the earliest signs of many age-related neurodegenerative
diseases and has been associated with increased mortality in older adults; however, its genetic
basis remains largely unknown.
OBJECTIVE
To identify the genetic loci associated with olfactory dysfunction in the general population.
DESIGN, SETTING AND PARTIICIPANTS
This genome-wide association study meta-analysis (GWMA) included participants of
European ancestry (N = 22,730) enrolled in four different large population-based studies,
followed by a multi-ancestry GWMA including participants of African ancestry (N = 1,030).
The data analysis was performed from March 2023 through June 2024.
EXPOSURES
Genome-wide single nucleotide polymorphisms.
MAIN OUTCOMES AND MEASURES
Olfactory dysfunction was the outcome and assessed using a 12-item smell identification test.
RESULTS
GWMA revealed a novel genome-wide significant locus (tagged by rs11228623 at 11q12)
associated with olfactory dysfunction. Gene-based analysis revealed a high enrichment for
olfactory receptor genes in this region. Phenome-wide association studies demonstrated
associations between genetic variants related to olfactory dysfunction and blood cell counts,
kidney function, skeletal muscle mass, cholesterol levels and cardiovascular disease. Using
individual-level data, we also confirmed and quantified the strength of these associations on a
phenotypic level. Moreover, employing two-sample Mendelian Randomization analyses, we
found evidence for causal associations between olfactory dysfunction and these phenotypes.
It is made available under a CC-BY-NC-ND 4.0 International license .
(which was not certified by peer review) is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity.
medRxiv preprint doi: https://doi.org/10.1101/2024.08.09.24311665; this version posted August 10, 2024. The copyright holder for this preprint
5
CONCLUSIONS
These findings provide novel insights into the genetic architecture of the sense of smell and
highlight its importance for many aspects of human health.

DOI

DOI: 10.1101/2024.08.09.24311665

Journal article2024

Whole-genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles

Huffman JE, Nicholas J, Hahn J, Heath AS, Raffield LM, Yanek LR, Brody JA, Thibord F,

Peter P. Pramstaller, David Emmert, Christian Fuchsberger

Genetic studies have identified numerous regions associated with plasma fibrinogen levels in Europeans, yet missing heritability and limited inclusion of non-Europeans necessitates further studies with improved power and sensitivity. Compared with array-based genotyping, whole genome sequencing (WGS) data provides better coverage of the genome and better representation of non-European variants. To better understand the genetic landscape regulating plasma fibrinogen levels, we meta-analyzed WGS data from the NHLBI's Trans-Omics for Precision Medicine (TOPMed) program (n=32,572), with array-based genotype data from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium (n=131,340) imputed to the TOPMed or Haplotype Reference Consortium panel. We identified 18 loci that have not been identified in prior genetic studies of fibrinogen. Of these, four are driven by common variants of small effect with reported MAF at least 10 percentage points higher in African populations. Three signals (SERPINA1, ZFP36L2, and TLR10) contain predicted deleterious missense variants. Two loci, SOCS3 and HPN, each harbor two conditionally distinct, non-coding variants. The gene region encoding the fibrinogen protein chain subunits (FGG;FGB;FGA), contains 7 distinct signals, including one novel signal driven by rs28577061, a variant common in African ancestry populations but extremely rare in Europeans (MAFAFR=0.180; MAFEUR=0.008). Through phenome-wide association studies in the VA Million Veteran Program, we found associations between fibrinogen polygenic risk scores and thrombotic and inflammatory disease phenotypes, including an association with gout. Our findings demonstrate the utility of WGS to augment genetic discovery in diverse populations and offer new insights for putative mechanisms of fibrinogen regulation.

DOI

DOI: 10.1182/blood.2023022596

Journal article2023

Antithrombin, Protein C, and Protein S: Genome and Transcriptome-Wide Association Studies Identify 7 Novel Loci Regulating Plasma Levels

Ji Y, Temprano-Sagrera G, Holle LA, Bebo A, Brody JA, Le NQ, Kangro K, Brown MR,

Andrew Hicks, Martin Gögele, David Emmert, Christian Fuchsberger

Background: Antithrombin, PC (protein C), and PS (protein S) are circulating natural anticoagulant proteins that regulate hemostasis and of which partial deficiencies are causes of venous thromboembolism. Previous genetic association studies involving antithrombin, PC, and PS were limited by modest sample sizes or by being restricted to candidate genes. In the setting of the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium, we meta-analyzed across ancestries the results from 10 genome-wide association studies of plasma levels of antithrombin, PC, PS free, and PS total.

Methods: Study participants were of European and African ancestries, and genotype data were imputed to TOPMed, a dense multiancestry reference panel. Each of the 10 studies conducted a genome-wide association studies for each phenotype and summary results were meta-analyzed, stratified by ancestry. Analysis of antithrombin included 25 243 European ancestry and 2688 African ancestry participants, PC analysis included 16 597 European ancestry and 2688 African ancestry participants, PSF and PST analysis included 4113 and 6409 European ancestry participants. We also conducted transcriptome-wide association analyses and multiphenotype analysis to discover additional associations. Novel genome-wide association studies and transcriptome-wide association analyses findings were validated by in vitro functional experiments. Mendelian randomization was performed to assess the causal relationship between these proteins and cardiovascular outcomes.

Results: Genome-wide association studies meta-analyses identified 4 newly associated loci: 3 with antithrombin levels (GCKR, BAZ1B, and HP-TXNL4B) and 1 with PS levels (ORM1-ORM2). transcriptome-wide association analyses identified 3 newly associated genes: 1 with antithrombin level (FCGRT), 1 with PC (GOLM2), and 1 with PS (MYL7). In addition, we replicated 7 independent loci reported in previous studies. Functional experiments provided evidence for the involvement of GCKR, SNX17, and HP genes in antithrombin regulation.

Conclusions: The use of larger sample sizes, diverse populations, and a denser imputation reference panel allowed the detection of 7 novel genomic loci associated with plasma antithrombin, PC, and PS levels.

DOI Source

DOI: 10.1161/ATVBAHA.122.318213

Internet2023

Whole genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles [preprint]

Huffman JE, Nicolas J, Hahn J, Heath AS, Raffield LM, Yanek LR, Brody JA, Thibord F,

Martin Gögele, Peter P. Pramstaller, David Emmert, Christian Fuchsberger

UNLABELLED\nKEY POINTS\nGenetic studies have identified numerous regions associated with plasma fibrinogen levels in Europeans, yet missing heritability and limited inclusion of non-Europeans necessitates further studies with improved power and sensitivity. Compared with array-based genotyping, whole genome sequencing (WGS) data provides better coverage of the genome and better representation of non-European variants. To better understand the genetic landscape regulating plasma fibrinogen levels, we meta-analyzed WGS data from the NHLBI's Trans-Omics for Precision Medicine (TOPMed) program (n=32,572), with array-based genotype data from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium (n=131,340) imputed to the TOPMed or Haplotype Reference Consortium panel. We identified 18 loci that have not been identified in prior genetic studies of fibrinogen. Of these, four are driven by common variants of small effect with reported MAF at least 10% higher in African populations. Three ( SERPINA1, ZFP36L2 , and TLR10) signals contain predicted deleterious missense variants. Two loci, SOCS3 and HPN , each harbor two conditionally distinct, non-coding variants. The gene region encoding the protein chain subunits ( FGG;FGB;FGA ), contains 7 distinct signals, including one novel signal driven by rs28577061, a variant common (MAF=0.180) in African reference panels but extremely rare (MAF=0.008) in Europeans. Through phenome-wide association studies in the VA Million Veteran Program, we found associations between fibrinogen polygenic risk scores and thrombotic and inflammatory disease phenotypes, including an association with gout. Our findings demonstrate the utility of WGS to augment genetic discovery in diverse populations and offer new insights for putative mechanisms of fibrinogen regulation.\nLargest and most diverse genetic study of plasma fibrinogen identifies 54 regions (18 novel), housing 69 conditionally distinct variants (20 novel).Sufficient power achieved to identify signal driven by African population variant.Links to (1) liver enzyme, blood cell and lipid genetic signals, (2) liver regulatory elements, and (3) thrombotic and inflammatory disease.

DOI

DOI: 10.1182/blood.2023022596

Conference proceedings article2022

Can individual studies add value to characterize loci from genome-wide association meta-analyses? A case study

Ghasemi-Semeskandeh D, Emmert D, König E, Foco L, Gögele M, Barin L, Fuchsberger C, Peters D,

Cristian Pattaro, Martin Gögele, Luisa Foco, Peter P. Pramstaller, David Emmert, Christian Fuchsberger, Eva König

Project: Multidisciplinary Training in Chronic Kidney Disease: from genetic modifiers to drug discovery

Genome-wide association study (GWAS) meta-analyses identified thousands of loci. Given genetic variant effect sizes vary across contributing studies due to environmental or genetic differences, study-specific features might contribute to biological mechanism elucidation. We contrasted a GWAS of estimated glomerular filtration rate (eGFR) in a population-based study from the Alps, where thyroid disease is common, against a meta-analysis from the CKDGen Consortium (n>1 million) that previously identified 147 kidney function relevant loci.

In the Cooperative Health Research in South Tyrol (CHRIS) study (n=10,146), we fitted mixed models on ln(eGFR), accounting for relatedness (genomic inflation λ=1.02), to assess direction-consistent replication of CKDGen results. Replicated variants underwent phenome-wide mediation analysis across 72 biomarkers.

We replicated 10 loci, totaling 162 variants correlated with the locus lead variant (r²≥0.8). In CHRIS, replicated variants had 1.3-to-5.8 times larger effects than in CKDGen, at similar minor allele frequencies. Free triiodothyronine and thyroxine resulted as potential mediators for most loci. Variant-by-hyperthyroidism interaction testing P-values were shifted towards small values, compatibly with a systematic effect modification.

The potential modifier role of hyperthyroidism on kidney function genetic associations warrants independent replication.

DOI Source

DOI: 10.1002/gepi.22503

Journal article2022

Can Individual Studies Add Value to Characterize Loci from Genome-wide Association Meta-analyses? A Case Study

Ghasemi-Semeskandeh D, Emmert D, König E, Foco L, Gögele M, Barin L, Fuchsberger C, Peters DJM,

Cristian Pattaro, Martin Gögele, Luisa Foco, Peter P. Pramstaller, David Emmert, Christian Fuchsberger, Eva König

Project: Multidisciplinary Training in Chronic Kidney Disease: from genetic modifiers to drug discovery

Abstract

DOI Source

DOI: 10.1002/gepi.22503

Journal article2021

Frequency of Heterozygous Parkin (PRKN) Variants and Penetrance of Parkinson's Disease Risk Markers in the Population-Based CHRIS Cohort

Castelo Rueda MP, Raftopoulou A, Gögele M, Borsche M, Emmert D, Fuchsberger C, Hantikainen EM, Vukovic V,

Andrew Hicks, Martin Gögele, Irene Pichler, Peter P. Pramstaller, David Emmert, Christian Fuchsberger, Essi Hantikainen

Project: Identifying Parkinson’s disease penetrance-modifying factors in the population-based Cooperative Health Research in South Tyrol (CHRIS) cohort

Mutations in the Parkin (PRKN) gene are the most frequent cause of autosomal recessive early-onset Parkinson's disease (PD). Heterozygous PRKN mutation carriers might also be at increased risk for developing clinical symptoms of PD. Given the high frequency of heterozygous mutations in the general population, it is essential to have better estimates of the penetrance of these variants, and to investigate, which clinical and biochemical markers are present in carriers and thus potentially useful for identifying those individuals at greater risk of developing clinical symptoms later in life. In the present study, we ascertained the frequency of heterozygous PRKN mutation carriers in a large population sample of the Cooperative Health Research in South Tyrol (CHRIS) study, and screened for reported PD risk markers. 164 confirmed heterozygous PRKN mutation carriers were compared with 2,582 controls. A higher number of heterozygous mutation carriers reported a detectable increase in an akinesia-related phenotype, and a higher percentage of carriers had manifested diabetes. We also observed lower resting heart rate in the PRKN mutation carriers. Extending our risk analyses to a larger number of potential carriers and non-carriers using genotype imputation (n = 299 carriers and n = 7,127 non-carriers), from previously published biomarkers we also observed a higher neutrophil-to-lymphocyte ratio (NLR) and lower serum albumin and sodium levels in the heterozygous PRKN variant carriers. These results identify a set of biomarkers that might be useful either individually or as an ensemble to identify variant carriers at greater risk of health issues due to carrier status.

DOI Source

DOI: 10.3389/fneur.2021.706145

Journal article2021

Genetic and Metabolic Determinants of Atrial Fibrillation in a General Population Sample: The CHRIS Study

Emmert DB, Vukovic V, Dordevic N, Weichenberger CX, Losi C, D’Elia Y, Volpato C, Hernandes VV,

Cristian Pattaro, Christian Weichenberger, Martin Gögele, Deborah Mascalzoni, Luisa Foco, Peter P. Pramstaller, Marzia De Bortoli, David Emmert, Christian Fuchsberger, Alessandra Rossini, Claudia Volpato, Johannes Rainer

Atrial fibrillation (AF) is a supraventricular arrhythmia deriving from uncoordinated
electrical activation with considerable associated morbidity and mortality. To expand the limited
understanding of AF biological mechanisms, we performed two screenings, investigating the genetic
and metabolic determinants of AF in the Cooperative Health Research in South Tyrol study. We
found 110 AF cases out of 10,509 general population individuals. A genome-wide association scan
(GWAS) identified two novel loci (p-value < 5 10􀀀8) around SNPs rs745582874, next to gene PBX1,
and rs768476991, within gene PCCA, with genotype calling confirmed by Sanger sequencing. Risk
alleles at both SNPs were enriched in a family detected through familial aggregation analysis of the
phenotype, and both rare alleles co-segregated with AF. The metabolic screening of 175 metabolites,
in a subset of individuals, revealed a 41% lower concentration of lysophosphatidylcholine lysoPC
a C20:3 in AF cases compared to controls (p-adj = 0.005). The genetic findings, combined with
previous evidence, indicate that the two identified GWAS loci may be considered novel genetic
rare determinants for AF. Considering additionally the association of lysoPC a C20:3 with AF by
metabolic screening, our results demonstrate the valuable contribution of the combined genomic and
metabolomic approach in studying AF in large-scale population studies.

DOI Source

DOI: 10.3390/biom11111663

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Journal article2023

Antithrombin, Protein C, and Protein S: Genome and Transcriptome-Wide Association Studies Identify 7 Novel Loci Regulating Plasma Levels

Ji Y, Temprano-Sagrera G, Holle LA, Bebo A, Brody JA, Le NQ, Kangro K, Brown MR,

Andrew Hicks, Martin Gögele, David Emmert, Christian Fuchsberger

DOI Source

DOI: 10.1161/ATVBAHA.122.318213

David Emmert

About

Scientific Publications

Genome-wide association meta-analysis of human olfactory identification discovers sex-specific and sex-differential genetic variants.

Genome-wide association study meta-analysis uncovers novel genetic variants associated with olfactory dysfunction

Systematic mediation and interaction analyses of kidney function genetic loci in a general population study

Factors influencing olfactory function in an adult general population sample: the CHRIS study

Genome-Wide Association Study Meta-Analysis Uncovers Novel Genetic Variants Associated with Olfactory Dysfunction [preprint]

Whole-genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles

Antithrombin, Protein C, and Protein S: Genome and Transcriptome-Wide Association Studies Identify 7 Novel Loci Regulating Plasma Levels

Whole genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles [preprint]

Can individual studies add value to characterize loci from genome-wide association meta-analyses? A case study

Can Individual Studies Add Value to Characterize Loci from Genome-wide Association Meta-analyses? A Case Study

Frequency of Heterozygous Parkin (PRKN) Variants and Penetrance of Parkinson's Disease Risk Markers in the Population-Based CHRIS Cohort

Genetic and Metabolic Determinants of Atrial Fibrillation in a General Population Sample: The CHRIS Study

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Scientific Publications

Genome-wide association meta-analysis of human olfactory identification discovers sex-specific and sex-differential genetic variants.

Genome-wide association study meta-analysis uncovers novel genetic variants associated with olfactory dysfunction

Systematic mediation and interaction analyses of kidney function genetic loci in a general population study

Factors influencing olfactory function in an adult general population sample: the CHRIS study

Genome-Wide Association Study Meta-Analysis Uncovers Novel Genetic Variants Associated with Olfactory Dysfunction [preprint]

Whole-genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles

Antithrombin, Protein C, and Protein S: Genome and Transcriptome-Wide Association Studies Identify 7 Novel Loci Regulating Plasma Levels

Whole genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles [preprint]

Can individual studies add value to characterize loci from genome-wide association meta-analyses? A case study

Can Individual Studies Add Value to Characterize Loci from Genome-wide Association Meta-analyses? A Case Study

Frequency of Heterozygous Parkin (PRKN) Variants and Penetrance of Parkinson's Disease Risk Markers in the Population-Based CHRIS Cohort

Genetic and Metabolic Determinants of Atrial Fibrillation in a General Population Sample: The CHRIS Study