Daniel MacArthur

44PUBLICATIONS

318CO-AUTHORS

Evolutionary computationCardiology (incl. cardiovascular diseases)Gene expression (incl. microarray and other genome-wide approaches)NeurogeneticsGenome structure and regulation

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Publications (44)

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|Jun 24, 2026

Automated reanalysis of genomic data for rare disease diagnostics at scale.

|Jun 02, 2026

Cardiomyopathy and Sudden Cardiac Death as a Rare Presentation of Mucolipidosis Type III in a Family With Compound Heterozygous Variants in <i>GNPTAB</i>.

|Apr 23, 2026

Opportunistic genomic screening of healthy controls in an Australian biobank.

|Apr 29, 2025

Saturation genome editing of <i>RNU4-2</i> 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

Beryl B Cummings

James S Ware

Qingbo Wang

Benjamin Neale

Michael Talkowski

Mark J Daly

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