R. Gillespie

发表

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

S. Lovell, S. Bhaskar, G. Hall, 2016, Orphanet Journal of Rare Diseases.

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

I. C. Lloyd, J. Clayton-Smith, G. Hall, 2016, Eye.

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

I. C. Lloyd, J. Clayton-Smith, S. Bhaskar, 2014, Ophthalmology.

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

I. C. Lloyd, G. Black, R. Gillespie, 2014, Human Heredity.

The Role of Molecular Genetics in the Assessment of Children with Congenital Cataract

G. Black, R. Gillespie, 2017 .

A comprehensive phenotypic and molecular analysis of congenital and childhood cataract

R. Gillespie, 2015 .

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

Peter M. G. Munro, G. Holder, V. Plagnol, 2016, American journal of human genetics.

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

Silke Rinkwitz, I. C. Lloyd, Marija Mihelec, 2015, Human molecular genetics.

Genetic testing for inherited ocular disease: delivering on the promise at last?

G. Hall, G. Black, R. Gillespie, 2014, Clinical & experimental ophthalmology.

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

I. C. Lloyd, J. Clayton-Smith, S. Williams, 2016, Ophthalmology.

Molecular findings from 537 individuals with inherited retinal disease

I. C. Lloyd, J. Lamb, S. Daiger, 2016, Journal of Medical Genetics.

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

R. Horvath, P. Sergouniotis, G. Black, 2017, JAMA ophthalmology.

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

J. Clayton-Smith, S. Lovell, D. Schorderet, 2015, Investigative ophthalmology & visual science.

Delivering the promise of genomics for ophthalmology: congenital cataract as an exemplar

J. Clayton-Smith, S. Ramsden, G. Black, 2014 .

Genetic testing for inherited ocular disease: delivering on the promise at last?

G. Hall, G. Black, R. Gillespie, 2014, Clinical & experimental ophthalmology.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, American journal of human genetics.