Daniel MacArthur

44PUBLICATIONS
318CO-AUTHORS
Evolutionary computationGene expression (incl. microarray and other genome-wide approaches)NeurogeneticsGenome structure and regulationStructural properties of condensed matter
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Publications (44)

|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

|May 27, 2024
Efficient and accurate mixed model association tool for single-cell eQTL analysis.

Wei Zhou, Anna S E Cuomo, Angli Xue

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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