Author
University Medical Center GroningenORCID 0000-0002-2581-070XUnclaimed ORCID profile · follow to get notified of new preprints
5 papers
Recent·Most cited
Jonah E. Einson, Dafni A. Glinos, Eric Boerwinkle…·Tuuli Lappalainen
This study shows that common splice-regulatory variants can reduce the pathogenicity of rare exonic variants by modulating mRNA splicing.
Joshua S. Weinstock, Jayakrishnan Gopakumar, Bala Bharathi Burugula…·Rasika A. Mathias
The paper develops PACER to infer clonal expansion rates from single timepoint data and identifies TCL1A activation as a mediator of clonal hematopoiesis fitness.
Goo Jun, Adam C. English, Ginger Metcalf…·Fritz Joachim Sedlazeck
The paper presents a comprehensive catalog of structural variants across 138,134 individuals, identifying novel variants and their associations with cardio-metabolic and hematologic traits.
Ιωάννα Ντάλλα, Lu-Chen C Weng, James Cartwright…·Dan M. Roden
This study identifies 210 genetic loci associated with the PR interval through multi-ancestry GWAS, highlighting their role in cardiac conduction and cardiovascular disease.
Sara L. Pulit, Lu-Chen C Weng, Patrick F. McArdle…·Eric Boerwinkle
The paper assesses if genetic risk for atrial fibrillation explains cardioembolic stroke risk using genome-wide data from the Stroke Genetics Network.