Author

Omar A. Mahroo

St Thomas' HospitalORCID 0000-0003-1254-0832Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 3 Approach:statistical model· 2 Research Focus:GWAS / association mapping· 1 Assay:imaging· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Andrew R. WebsteriD· 2 shared Bart Peter LeroyiD· 2 shared Chris F. InglehearniD· 2 shared Elfride B. W. De BaereiD· 2 shared Gavin ArnoiD· 2 shared Julie De ZaeytijdiD· 2 shared Manir AliiD· 2 shared Takaaki HayashiiD· 2 shared

Activity by Year

2020-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Andrew R. WebsterORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJan 6, 2025

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková…·Gaël Manès

The paper identifies de novo and inherited variants in U4 and U6 snRNAs causing retinitis pigmentosa and shows their impact on snRNP biogenesis.

15 citations

𝕏 PostBluesky

Genetic & Genomic MedicinePLoS GeneticsPeer-reviewedFeb 27, 2023

Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation

Hannah Currant, Tomas W. Fitzgerald, Praveen J. Patel…·Ewan Birney

The paper identifies genetic variants associated with photoreceptor layer thickness using OCT data from UK Biobank, revealing a continuum between normal variation and rare disease.

24 citations

𝕏 PostBluesky

GeneticsbioRxivPreprintFeb 20, 2020

New pathogenic variants and insights into pathogenic mechanisms in GRK1-related Oguchi disease.

James A. Poulter, Molly S. C. Gravett, Rachel L. Taylor…·Chris F. Inglehearn

The paper identifies new pathogenic GRK1 variants in Oguchi disease and evaluates their impact on protein structure using bioinformatics tools.

DOI 10.1101/2020.02.20.936880

humanwhole-exome sequencing

𝕏 PostBluesky