Daniel MacArthur

45PUBLICATIONS
328CO-AUTHORS
Cardiology (incl. cardiovascular diseases)Evolutionary computationGene expression (incl. microarray and other genome-wide approaches)NeurogeneticsGenome structure and regulation
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Publications (45)

|Sep 16, 2026
Comparison of Performance of Publicly Available Polygenic Risk Scores to Predict Clinically Actionable Coronary Artery Calcium Scores: The BioHEART-CT Cohort.

|Jun 24, 2026
Automated reanalysis of genomic data for rare disease diagnostics at scale.

|Apr 23, 2026
Opportunistic genomic screening of healthy controls in an Australian biobank.

|Apr 29, 2025
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders.

Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji

|Apr 28, 2025
Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscape.

Hope A Tanudisastro, Anna S E Cuomo, Ben Weisburd

|Apr 03, 2025
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.

A Reghan Foley, Véronique Bolduc, Fady Guirguis

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Frequent Collaborators

19 joint publications

Anne O'Donnell-Luria

17 joint publications

Konrad J Karczewski

15 joint publications

Jessica Alföldi

11 joint publications

Laurent Francioli