Author

Ian M. MacDonald

University of AlbertaORCID 0000-0001-7472-8385Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 3 Research Focus:cell type annotation· 2 Research Focus:cell signaling & trafficking· 1 Research Focus:chromatin & epigenetic regulation· 1 Research Focus:development & morphogenesis· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1

Frequent Co-Authors

Adrian DockeryiD· 1 shared Alaa AlTalbishiiD· 1 shared Alexander HoischeniD· 1 shared Ana FakiniD· 1 shared Andrea Louise VincentiD· 1 shared Andrew Jan WaskiewicziD· 1 shared Anna Maria TracewskaiD· 1 shared Anna MatyniaiD· 1 shared

Activity by Year

2020-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetics

Adrian DockeryORCID

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3 papers

Recent·Most cited

Cell BiologyExperimental Eye ResearchPeer-reviewedFeb 4, 2026

PIKfyve is an essential component of the endolysosomal pathway within photoreceptors and the retinal pigment epithelium

Karen Attia, Ifrah Anjum, Susanne Lingrell…·Jennifer C. Hocking

This study investigates PIKfyve's role in photoreceptors and retinal pigment epithelium, finding that its loss causes structural and functional defects in these tissues.

3 citationstop 4%

zebrafishexperimental assay

𝕏 PostBluesky

GeneticsbioRxivPreprintAug 13, 2020

Pleiotropy in FOXC1-attributable phenotypes involves altered ciliation and cilia-dependent signaling

Serhiy Havrylov, Paul W. Chrystal, Suey van Baarle…·Ordan J. Lehmann

The paper shows that FOXC1 affects ciliation and cilia-dependent signaling, contributing to pleiotropic phenotypes in Axenfeld-Rieger Syndrome.

DOI 10.1101/2020.08.13.249334

mousestatistical model

𝕏 PostBluesky

GeneticsGenetics in MedicinePeer-reviewedApr 19, 2020

Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero…·Frans P.M. Cremers

The paper identifies pathogenic deep-intronic and structural variants in 26% of unsolved Stargardt disease cases using integrated genomics and transcriptomics.

131 citationstop 2%

humanwhole-genome sequencing

𝕏 PostBluesky