Rachel Taylor
5PUBLICATIONS
11CO-AUTHORS
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Publications (5)
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|Dec 20, 2024
HGVS Nomenclature 2024: improvements to community engagement, usability, and computability.Reece K Hart, Ivo F A C Fokkema, Marina DiStefano
|Mar 05, 2022
Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia.Rachel L Taylor, Carla Sanjuro Soriano, Simon Williams
|Aug 12, 2020
Cataract management in children: a review of the literature and current practice across five large UK centres.J E Self, R Taylor, A L Solebo
|Apr 22, 2020
Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar.Shalaw R Sallah, Panagiotis I Sergouniotis, Stephanie Barton
|Dec 15, 2019
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.Omamah A Jiman, Rachel L Taylor, Eva Lenassi
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Frequent Collaborators
1 joint publications
J E Self
1 joint publications
Omamah A Jiman
1 joint publications
Shalaw R Sallah
1 joint publications
Panagiotis I Sergouniotis
1 joint publications
Reece K Hart
1 joint publications
Ivo F A C Fokkema
1 joint publications
Marina DiStefano
1 joint publications
Ros Hastings
1 joint publications
Jeroen F J Laros
1 joint publications
Alex H Wagner
