Jonas Bille Nielsen

The paper performs metabolomics exome and genome-wide association studies in Amish adults, identifying genetic variants linked to metabolites and cardiometabolic traits.

This study conducts a trans-ancestry GWAS using chronic ALT elevation as a proxy for NAFLD, identifies 77 significant loci, and validates 17 SNPs with histology and imaging data, revealing genetic links to metabolic and inflammatory traits.

This study identifies 144 genetic loci associated with abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target through Mendelian Randomization and pre-clinical validation.

The paper identifies 51 known and 23 novel gene-disease associations using exome sequencing data from 200,000 UK Biobank participants, highlighting high-impact rare variants for 26 diseases and traits.

The paper conducts a genome-wide association study of liver fat, iron, and extracellular fluid fraction using UK Biobank MRI data, identifying novel genetic loci for these traits.

The paper evaluates family history and polygenic scores as predictors for coronary artery disease and type 2 diabetes using the Trondelag Health Study and UK Biobank.

A coronary artery disease GWAS of 181,522 cases among 1,165,690 participants yields 241 associations (54 new); an eight-predictor consensus nominates 185 candidate causal genes, 94 with ≥3 predictors.

This study identifies three genetic loci associated with chronic widespread musculoskeletal pain, with the RNF123 locus replicated in independent cohorts.

This study identifies seven novel genetic loci for Alzheimer's disease using a large GWAS and highlights microglia and immune pathways as key contributors to disease pathology.

SAIGE-GENE is a scalable generalized linear mixed model for region-based association tests in large cohorts, efficiently handling over 400,000 samples with controlled type I error rates.

This study identifies 42 genetic loci associated with excessive daytime sleepiness and links them to phenotypic subgroups and related traits.

This study identifies 147 genetic loci associated with eGFR, including 53 novel ones, and finds sex-specific effects on kidney function.

The paper identifies loss-of-function variants affecting liver-related blood traits that reduce CVD risk without increasing metabolic disease risk, highlighting potential therapeutic targets.

The paper identifies 57 genomic regions associated with insomnia symptoms, linking them to phototransduction, ubiquitination, and potential causal relationships with coronary heart disease and depression.

This paper introduces SAIGE, a method that improves the accuracy of genetic association tests in unbalanced case-control studies by using saddlepoint approximation, and demonstrates its effectiveness on UK Biobank data.

This study identifies 111 genetic loci and 163 risk variants associated with atrial fibrillation using a GWAS of over 1 million individuals.

This study identifies two new genetic loci associated with aortic valve stenosis through a large genome-wide association study.

This study uses Mendelian Randomization to show that higher BMI causally increases the risk of psoriasis and eczema, with a stronger effect on psoriasis.