Rachel L. Gillespie
Oxford Rd
Manchester, ENG, United Kingdom
Manchester, ENG, United Kingdom
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
An Unusual Retinal Phenotype Associated With a Mutation in Sterol Carrier Protein SCP2.
Journal: JAMA ophthalmology
Published: December 30, 2016
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.
Journal: Orphanet journal of rare diseases
Published: May 31, 2016
Molecular findings from 537 individuals with inherited retinal disease.
Journal: Journal of medical genetics
Published: February 11, 2016
Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach.
Journal: Eye (London, England)
Published: October 20, 2015
Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract.
Journal: Ophthalmology
Published: June 18, 2015
Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.
Journal: Human molecular genetics
Published: April 02, 2015
Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy.
Journal: Investigative ophthalmology & visual science
Published: January 10, 2015
The use of autozygosity mapping and next-generation sequencing in understanding anterior segment defects caused by an abnormal development of the lens.
Journal: Human heredity
Published: July 26, 2014
Personalized diagnosis and management of congenital cataract by next-generation sequencing.
Journal: Ophthalmology
Published: March 04, 2014
Genetic testing for inherited ocular disease: delivering on the promise at last?
Journal: Clinical & experimental ophthalmology
Published: February 23, 2013
Showing 1-10 of 10
Last Updated: 09/26/2026