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List of works by Rachel L Gillespie

Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy

scientific article published on 8 January 2015

An Unusual Retinal Phenotype Associated With a Mutation in Sterol Carrier Protein SCP2.

scientific article

Cataract management in children: a review of the literature and current practice across five large UK centres

scientific article published on 10 August 2020

Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach

scientific article published on 17 June 2016

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease

scientific article published on 13 December 2019

Molecular findings from 537 individuals with inherited retinal disease.

scientific article published on 11 May 2016

Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization

scientific journal article

Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract

scientific article published on 29 July 2015

Personalized diagnosis and management of congenital cataract by next-generation sequencing.

scientific article published on 19 August 2014

Scrib:Rac1 interactions are required for the morphogenesis of the ventricular myocardium

scientific article published on 18 August 2014

The Use of Autozygosity Mapping and Next-Generation Sequencing in Understanding Anterior Segment Defects Caused by an Abnormal Development of the Lens

article

The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.

scientific article

Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar

scientific article published on 20 April 2020

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