Laura Whelan
8PUBLICATIONS
189CO-AUTHORS
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Publications (8)
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|Jan 09, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova
|Dec 30, 2025
Secondary Ophthalmic Features Represent Diagnostic Clues and Potential Points of Intervention for Inherited Retinal Diseases (Target 5000 Report 3).Kirk A J Stephenson, Julia Zhu, Marcus Conway
|Jan 25, 2025
Novel Splice-Altering Variants in the CHM and CACNA1F Genes Causative of X-Linked Choroideremia and Cone Dystrophy.Anna R Ridgeway, Ciara Shortall, Laura K Finnegan
|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova
|Feb 28, 2022
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.Hedwig M Velde, Janine Reurink, Sebastian Held
|Nov 19, 2021
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.Zeinab Fadaie, Laura Whelan, Tamar Ben-Yosef
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Frequent Collaborators
5 joint publications
Adrian Dockery
5 joint publications
Susanne Roosing
3 joint publications
Christian Gilissen
3 joint publications
Jamie M Ellingford
3 joint publications
Gwyneth Jane Farrar
2 joint publications
Zeinab Fadaie
2 joint publications
Catherina H Z Li
2 joint publications
L Ingeborgh van den Born
2 joint publications
Carel B Hoyng
2 joint publications
Frans P M Cremers
