Omar Mahroo

51PUBLICATIONS
276CO-AUTHORS
Neurology and neuromuscular diseasesAutoimmunitySensory systemsEpigenetics (incl. genome methylation and epigenomics)Microbial genetics
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Publications (51)

|Jul 17, 2026
Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.

|Apr 09, 2026
Retinopathy caused by a primary immune regulatory disorder - the spectrum of AIRE-associated retinopathy: case series and literature review.

Mohammad Anas, Andrew C Browning, Siying Lin

|Jan 09, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Oct 17, 2025
Identification of blood-derived DNA methylation biomarkers of glaucoma and intraocular pressure measurements in three European ancestry cohorts including the Canadian longitudinal study on aging.

Xiaofan Jiang, Omar A Mahroo, Anthony P Khawaja

|Oct 07, 2025
A novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss.

Lauren Y Cao, Anna Duemler, Emily H Jung

|Jul 09, 2025
Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype Associations.

William Woof, Thales A C de Guimarães, Saoud Al-Khuzaei

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Frequent Collaborators

12 joint publications

Siying Lin

7 joint publications

Andrew Webster

6 joint publications

Nikolas Pontikos

6 joint publications

Gavin Arno