List of works - Andrew R Webster

A clinical and molecular characterisation of CRB1-associated maculopathy ⬇️

scientific article published in February 2018

A new paradigm for delivering personalised care: integrating genetics with surgical interventions in BEST1 mutations

scientific article published on 27 August 2019

A phenotype-genotype correlation study of X-linked retinoschisis.

scientific article published on 28 February 2013

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

scientific article published on 26 October 2017

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

scientific article published on 21 January 2017

Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa

scientific article published on 5 January 2017

Collaborative Research and Development of a Novel, Patient-Centered Digital Platform (MyEyeSite) for Rare Inherited Retinal Disease Data: Acceptability and Feasibility Study

scientific article published on 08 October 2021

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

scientific article published on 28 December 2016

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. ⬇️

scientific article published on 23 February 2017

Delineating the expanding phenotype associated with SCAPER gene mutation

scientific article published on 13 June 2019

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration

scientific article

Germline selection shapes human mitochondrial DNA diversity

scientific article published on 23 May 2019

Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.

scientific article

Macula-predominant retinopathy associated with biallelic variants in RDH12

scientific article published on 13 August 2020

Macular maldevelopment in ATF6-mediated retinal dysfunction

scientific article published on 01 December 2019

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

scientific article published in November 2016

Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans

scientific article published on 07 November 2015

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa ⬇️

scientific journal article

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

scientific article

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

scientific article published in September 2016

Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2

scientific article published on 01 April 2019

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy ⬇️

scientific article published on June 2017

The treatment of refractory angle-closure glaucoma in a patient with X-linked juvenile retinoschisis

scientific article published on 06 August 2018

Unilateral pigmentary retinopathy: a retrospective case series

scientific article published on 31 December 2018

WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression

scientific article published in 2022

Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration

scientific article published on 19 November 2018

List of works by Andrew R Webster

A clinical and molecular characterisation of CRB1-associated maculopathy ⬇️

A new paradigm for delivering personalised care: integrating genetics with surgical interventions in BEST1 mutations

A phenotype-genotype correlation study of X-linked retinoschisis.

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

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

Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa

Collaborative Research and Development of a Novel, Patient-Centered Digital Platform (MyEyeSite) for Rare Inherited Retinal Disease Data: Acceptability and Feasibility Study

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. ⬇️

Delineating the expanding phenotype associated with SCAPER gene mutation

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration

Germline selection shapes human mitochondrial DNA diversity

Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.

Macula-predominant retinopathy associated with biallelic variants in RDH12

Macular maldevelopment in ATF6-mediated retinal dysfunction

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa ⬇️

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy ⬇️

The treatment of refractory angle-closure glaucoma in a patient with X-linked juvenile retinoschisis

Unilateral pigmentary retinopathy: a retrospective case series

WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression

Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration