Martina Müller‐Nurasyid

This study identifies 14 susceptibility loci for Ewing sarcoma through a genome-wide association meta-analysis, revealing genetic interactions with somatic EWSR1::FLI1 fusions.

This study identifies PTPRK as a gene modulated by TMPRSS2::ERG fusion and a regulatory SNP, showing its role in prostate cancer progression and potential as a biomarker.

This study compares genomic and phenotypic stability of pediatric Ewing sarcoma cell lines to adult carcinoma cell lines over 12 months of culture.

OTTERS is a TWAS framework that uses summary-level eQTL reference data to estimate eQTL weights and perform omnibus TWAS, showing improved power and applicability.

The paper reconstructs regulatory networks underlying trans-QTL hotspots using human multi-omics data and biological priors, identifying novel networks related to schizophrenia and lean body mass.

The paper uses blood eQTL meta-analysis to explore the polygenic architecture of complex traits, finding that trans-eQTLs are more informative for identifying causal genes than cis-eQTLs.

This study performs a GWAS on random glucose measurements in 493,036 individuals, identifying 128 loci associated with glycaemic traits and providing insights into diabetes biology and treatment.

This study performs a large GWAS on dilated cardiomyopathy, identifying two new loci and confirming two existing ones, with potential therapeutic implications.

This study performs a genome-wide association meta-analysis of early AMD, identifying 11 loci, 9 novel, and highlighting shared and distinct genetic factors between early and advanced AMD.

This study identifies shared genetic loci between multiple system atrophy and inflammatory bowel disease using conjFDR, highlighting immune and gut-related molecular mechanisms.

This study identifies 210 genetic loci associated with the PR interval through multi-ancestry GWAS, highlighting their role in cardiac conduction and cardiovascular disease.

This paper introduces TWMR, a Mendelian Randomization method that identifies gene-trait associations by integrating GWAS and eQTL data, revealing 3,913 novel associations across 43 human phenotypes.

This paper evaluates the causal effect of fibrinogen on coronary heart disease using Mendelian randomization, finding a small effect with multi-variant methods but not with single variant approaches.

This study identifies genetic effects on birth weight and their impact on cardio-metabolic traits, distinguishing fetal and maternal contributions.

The paper identifies cis-epistasis at the LPA locus involving two SNPs that interact to modulate coronary artery disease risk and related traits.

The paper assesses if genetic risk for atrial fibrillation explains cardioembolic stroke risk using genome-wide data from the Stroke Genetics Network.

This study identifies 139 common and 4 rare genetic variants associated with type 2 diabetes through GWAS and integrates gene expression and epigenomic data to highlight potential functional genes and regulatory mechanisms.

This study evaluates the genetic architecture of sudden cardiac arrest through GWAS and Mendelian randomization, finding genetic correlations with CAD, height, BMI, and electrical instability traits.

The paper identifies gene targets for brain-related traits using transcriptomic and methylomic data from blood, finding strong correlations between genetic effects in brain and blood tissues.

This study identifies 16 causal coding variants in type 2 diabetes using fine-mapping and shows that one third of signals are false leads.

This paper introduces SAPPHO methods to detect pleiotropy in GWAS by modeling shared patterns of genetic associations, finding 16 additional and 124 novel loci in meta-analysis.

This study identifies 47 novel genetic loci associated with PR interval through genome-wide association meta-analysis across multiple populations.

RL-SKAT improves the accuracy of score tests for heritability and set-based genetic association by calculating exact p-values, avoiding the inflation or deflation of p-values seen in traditional methods.