Ian M MacDonald

14PUBLICATIONS
45CO-AUTHORS
Cancer diagnosisGene expression (incl. microarray and other genome-wide approaches)Medical infection agents (incl. prions)Optical technologyCondensed matter imaging
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Publications (14)

|Feb 19, 2026
Identification of Two Novel Mutations in the CHM Gene Causing Choroideremia.

Farshad Niri, Alina Radziwon, Rachel Mah

|May 19, 2025
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.

Eline Van Vooren, Filip Van den Broeck, Quinten Mahieu

|Jan 13, 2025
Inferior sectoral chorioretinopathy in two patients with novel heterozygous <i>KIF11</i> mutations.

Amit V Mishra, Rosanna Martens, Carolin Aizouki

|Jun 01, 2023
Pseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the <i>ABCC6</i> gene.

Amit V Mishra, Rosanna Martens, Ian M MacDonald

|Nov 04, 2022
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision.

Paul W Chrystal, Nils J Lambacher, Lance P Doucette

|Jan 26, 2022
Lessons learned from research on choroideremia.

Ian M MacDonald

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Frequent Collaborators

3 joint publications

Nicole C L Noel

2 joint publications

W Ted Allison

1 joint publications

Kaylie D Jones

1 joint publications

Lance P Doucette