A. Webster

发表

An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

Damian Smedley, Julius O. B. Jacobsen, Valentina Cipriani, 2020, Genes.

The Frequency of the H402 Allele of CFH and Its Involvement with Age-Related Maculopathy in an Aged Black African Xhosa Population

S. Bardien, A. Webster, L. van der Merwe, 2008, Ophthalmic genetics.

Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.

I. Deary, D. Clayton, Hin-Tak Leung, 2012, Human molecular genetics.

Seven New Loci Associated with Age-Related Macular Degeneration

Gabriëlle H S Buitendijk, R. T. Smith, Chelsea E. Myers, 2013, Nature Genetics.

Deep Phenotyping of PDE6C-Associated Achromatopsia

A. Dubra, C. Ripamonti, Nikolas Pontikos, 2019, Investigative ophthalmology & visual science.

KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2

E. Zrenner, D. Sharon, K. Tsunoda, 2021, American journal of ophthalmology.

A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis

W. Zein, O. Mahroo, G. Arno, 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

Photoreceptor Structure in GNAT2-Associated Achromatopsia

A. Dubra, M. Michaelides, A. Webster, 2020, Investigative ophthalmology & visual science.

Phenotypic variation in enhanced S-cone syndrome.

D. Hunt, A. Bird, G. Holder, 2008, Investigative ophthalmology & visual science.

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

G. Holder, A. Webster, A. Moore, 2013, Ophthalmology.

A prospective longitudinal study of retinal structure and function in achromatopsia.

M. Nardini, A. Dubra, G. Rubin, 2014, Investigative ophthalmology & visual science.

Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype–Phenotype Correlation and Functional Investigation of Cone Opsin Variants

G. Holder, G. Liew, M. Michaelides, 2014, Human mutation.

Retinal structure and function in achromatopsia: implications for gene therapy.

Christopher S. Langlo, M. Nardini, A. Dubra, 2014, Ophthalmology.

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

S. Beck, Marina Garcia Garrido, V. Sothilingam, 2015, Nature Genetics.

Visual Psychophysics and Physiological Optics Genotype-Dependent Variability in Residual Cone Structure in Achromatopsia : Toward Developing Metrics for Assessing Cone Health

Christopher S. Langlo, A. Dubra, G. Fishman, 2014 .

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

F. Cremers, M. During, R. MacLaren, 2014, The Lancet.

Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved Retinal Pigment Epithelium Area in Eyes With Choroideremia.

N. Bressler, M. Larsen, S. Tsang, 2017, American journal of ophthalmology.

Visual consequences of molecular changes in the guanylate cyclase-activating protein.

A. Stockman, C. Ripamonti, M. Michaelides, 2014, Investigative ophthalmology & visual science.

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

Dorothy A. Thompson, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, American journal of human genetics.

OP-BRCM210164 1..21

R. Bowman, G. Holder, M. Caleo, 2021 .

Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations.

P. Keane, M. Bitner-Glindzicz, P. Chinnery, 2016, Ophthalmology.

Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations

B. J. Klevering, C. Klaver, B. Lorenz, 2013, Human mutation.

Evidence of association of APOE with age‐related macular degeneration ‐ a pooled analysis of 15 studies

Lars G Fritsche, Ammarin Thakkinstian, Wei Chen, 2011, Human mutation.

Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.

Subhadra Jalali, Anand Swaroop, S. Jacobson, 2006, American journal of human genetics.

A detailed phenotypic study of “cone dystrophy with supernormal rod ERG”

J. Mollon, D. Hunt, A. Bird, 2005, British Journal of Ophthalmology.

Infrared Fundus Photography in a Case of Acute Macular Neuroretinopathy

G. Plant, A. Webster, M. Robert, 2008 .

RDH12 retinopathy: novel mutations and phenotypic description

Dorothy A. Thompson, G. Holder, S. Bhattacharya, 2011, Molecular vision.

Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.

Dorothy A. Thompson, P. Sergouniotis, A. Webster, 2011, Investigative ophthalmology & visual science.

An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.

Dorothy A. Thompson, G. Holder, S. Bhattacharya, 2007, Investigative ophthalmology & visual science.

Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update

A. Bird, G. Holder, F. Fitzke, 2007, Documenta Ophthalmologica.

Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish

M. Gorin, A. Webster, A. Dubis, 2019, Experimental eye research.

Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy

A. Webster, C. Futter, A. Dubis, 2019, Scientific Reports.

Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model.

L. da Cruz, P. Coffey, A. Webster, 2016, Human molecular genetics.

Germline selection shapes human mitochondrial DNA diversity

David L. Bennett, Kenneth G. C. Smith, Katherine R. Smith, 2019, Science.

Comparison of fundus autofluorescence with photopic and scotopic fine matrix mapping in patients with retinitis pigmentosa: 4- to 8-year follow-up.

G. Holder, F. Fitzke, E. Lenassi, 2012, Investigative ophthalmology & visual science.

SERIAL IMAGING AND STRUCTURE-FUNCTION CORRELATES OF HIGH-DENSITY RINGS OF FUNDUS AUTOFLUORESCENCE IN RETINITIS PIGMENTOSA

A. Bird, G. Holder, F. Fitzke, 2011, Retina.

Pattern ERG correlates of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity.

A. Bird, G. Holder, F. Fitzke, 2003, Investigative ophthalmology & visual science.

Functional characterisation and serial imaging of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity

A. Bird, F. Fitzke, A. Webster, 2006, British Journal of Ophthalmology.

Panel‐based genetic testing for inherited retinal disease screening 176 genes

O. Mahroo, Nikolas Pontikos, G. Arno, 2021, Molecular genetics & genomic medicine.

Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities

D. Hunt, V. Cipriani, Nikolas Pontikos, 2017, Ophthalmic genetics.

A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome

G. Arno, A. Webster, F. L. Motta, 2021, Ophthalmic genetics.

Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).

Alessia Fiorentino, Nikolas Pontikos, Michel Michaelides, 2016, JAMA ophthalmology.

Isolated rod dysfunction associated with a novel genotype of CNGB1

G. Holder, G. Arno, A. Webster, 2019, American journal of ophthalmology case reports.

Association of Steroid 5&agr;-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy

Rachel L. Taylor, Katherine R. Smith, J. Clayton-Smith, 2017, JAMA ophthalmology.

Delineation of the early-onset retinal dystrophy associated with 1 steroid 5 α-reductase type 3-congenital disorder of glycosylation 2 ( SRD 5 A 3-CDG ) 3

Rachel L. Taylor, Katherine R. Smith, J. Clayton-Smith, 2017 .

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.

P. Charbel Issa, G. Holder, V. Plagnol, 2015, Investigative ophthalmology & visual science.

Electrical responses from human retinal cone pathways associate with a common genetic polymorphism implicated in myopia

C. Hammond, K. Williams, O. Mahroo, 2022, Proceedings of the National Academy of Sciences of the United States of America.

Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease

B. J. Klevering, C. Hoyng, M. Michaelides, 2017, PloS one.

A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1

P. Foster, P. Sergouniotis, A. Webster, 2010, Molecular vision.

Title : Germline selection shapes the landscape of human mitochondrial DNA

Kenneth G. C. Smith, Katherine R. Smith, K. Stirrups, 2019 .

NORMAL ELECTROOCULOGRAPHY IN BEST DISEASE AND AUTOSOMAL RECESSIVE BESTROPHINOPATHY

G. Holder, M. Michaelides, A. Webster, 2018, Retina.

NIDEK MP1 IS ABLE TO DETECT SUBTLE DECLINE IN FUNCTION IN INHERITED AND AGE-RELATED ATROPHIC MACULAR DISEASE WITH STABLE VISUAL ACUITY

L. da Cruz, F. Chen, P. Coffey, 2011, Retina.

Prevalence of Cystoid Macular Edema, Epiretinal Membrane and Cataract in Retinitis Pigmentosa Short title: CME, ERM and cataract in retinitis pigmentosa

G. Liew, A. Kifley, M. Michaelides, 2018 .

Prevalence of cystoid macular oedema, epiretinal membrane and cataract in retinitis pigmentosa

P. Mitchell, G. Liew, A. Kifley, 2018, British Journal of Ophthalmology.

Characterization of Visual Function, Interocular Variability and Progression Using Static Perimetry–Derived Metrics in RPGR-Associated Retinopathy

M. Michaelides, A. Webster, J. Bainbridge, 2018, Investigative ophthalmology & visual science.

Factors associated with visual acuity in patients with cystoid macular oedema and Retinitis Pigmentosa

G. Liew, M. Michaelides, A. Webster, 2018, Ophthalmic epidemiology.

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

K. Steel, M. Bitner-Glindzicz, A. Coffey, 2015, European Journal of Human Genetics.

Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa.

D. Sharon, U. Wolfrum, J. Sosna, 2013, American journal of human genetics.

Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases

D. Mackey, F. Chen, C. Hammond, 2022, Investigative ophthalmology & visual science.

Macular maldevelopment in ATF6-mediated retinal dysfunction

G. Holder, G. Arno, A. Webster, 2019, Ophthalmic genetics.

Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa

Dorothy A. Thompson, G. Holder, V. Plagnol, 2017, JAMA ophthalmology.

Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.

G. Holder, V. Plagnol, S. Mansour, 2016, JAMA ophthalmology.

Explorer A rare de novo nonsense mutation in OTX 2 causes early onset retinal dystrophy and pituitary dysfunction

G. Holder, D. Fitzpatrick, A. Webster, 2018 .

A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction

G. Holder, D. Fitzpatrick, A. Webster, 2009, Molecular vision.

Quantitative and Qualitative Features of Spectral-Domain Optical Coherence Tomography Provide Prognostic Indicators for Visual Acuity in Patients With Choroideremia.

A. Webster, M. Moosajee, W. S. Lim, 2017, Ophthalmic surgery, lasers & imaging retina.

MUTATIONS IN THE USH1C GENE ASSOCIATED WITH SECTOR RETINITIS PIGMENTOSA AND HEARING LOSS

K. Steel, M. Bitner-Glindzicz, G. Holder, 2011, Retina.

Does smoking influence the type of age related macular degeneration causing visual impairment?

T. Peto, A. Bird, A. Webster, 2006, British Journal of Ophthalmology.

Autofluorescence imaging of choroidal neovascularization due to age-related macular degeneration.

T. Peto, A. Bird, F. Fitzke, 2005, Archives of ophthalmology.

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

G. Holder, F. Raymond, K. Carss, 2017, Investigative Ophthalmology and Visual Science.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

Edinburgh Research Explorer Evidence of association of APOE with age-related macular degeneration

Fotis, G. Abecasis, A. Hingorani, 2018 .

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients.

G. Holder, M. Michaelides, A. Webster, 2016, Investigative ophthalmology & visual science.

Retina The Effect on Retinal Structure and Function of 15 Specific ABCA 4 Mutations : A Detailed Examination of 82 Hemizygous Patients

G. Holder, M. Michaelides, A. Webster, 2016 .

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

G. Holder, F. Raymond, R. MacLaren, 2017, JAMA ophthalmology.

Retinal detachment in retinitis pigmentosa

Mahi M. K. Muqit, A. Webster, N. Brennan, 2020, BMJ open ophthalmology.

High-resolution optical coherence tomography imaging in KCNV2 retinopathy

G. Holder, P. Sergouniotis, M. Michaelides, 2011, British Journal of Ophthalmology.

Longitudinal Study to Assess the Quantitative Use of Fundus Autofluorescence for Monitoring Disease Progression in Choroideremia

R. MacLaren, A. Webster, J. K. Jolly, 2021, Journal of clinical medicine.

Prospective deep phenotyping of choroideremia patients using multimodal structure-function approaches

Ahmed M. Hagag, A. Webster, A. Dubis, 2020, Eye.

Macular spatial distribution of preserved autofluorescence in patients with choroideremia

N. Bressler, M. Larsen, S. Tsang, 2018, British Journal of Ophthalmology.

ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull’s-eye maculopathy

E. Stone, A. Bird, M. Brantley, 2007, British Journal of Ophthalmology.

A clinical and molecular characterisation of CRB1-associated maculopathy

G. Holder, O. Mahroo, K. Carss, 2018, European Journal of Human Genetics.

Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History

M. Michaelides, A. Webster, M. Georgiou, 2020, American journal of ophthalmology.

Transcorneal electrical stimulation for the treatment of retinitis pigmentosa: results from the TESOLAUK trial

F. Gekeler, S. Wagner, R. MacLaren, 2016, BMJ Open Ophthalmology.

Efficacy and prognostic factors of response to carbonic anhydrase inhibitors in management of cystoid macular edema in retinitis pigmentosa.

G. Liew, M. Michaelides, A. Webster, 2015, Investigative ophthalmology & visual science.

Unilateral retinitis pigmentosa occurring in an individual with a germline mutation in the RP1 gene.

G. Holder, A. Webster, A. Moore, 2011, Archives of ophthalmology.

Structural Features Associated with the Development and Progression of RORA Secondary to Maternally Inherited Diabetes and Deafness.

A. Webster, C. Egan, A. Tufail, 2020, American journal of ophthalmology.

Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.

S. Richard, A. Webster, S. Olschwang, 1997, American journal of human genetics.

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

K. Steel, M. Bitner-Glindzicz, John C Ambrose, 2011, Journal of Medical Genetics.

Missense variants in the X‐linked gene PRPS1 cause retinal degeneration in females

V. Plagnol, Nikolas Pontikos, G. Arno, 2018, Human mutation.

PRPH2 MUTATIONS AS A CAUSE OF ELECTRONEGATIVE ERG

G. Holder, A. Webster, A. Moore, 2013, Retina.

New variants and in silico analyses in GRK1 associated Oguchi disease

Rachel L. Taylor, C. Rivolta, D. Donnelly, 2020, Human mutation.

New pathogenic variants and insights into pathogenic mechanisms in GRK1-related Oguchi disease

Rachel L. Taylor, C. Rivolta, D. Donnelly, 2020, bioRxiv.

Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti

G. Arno, A. Webster, A. Moore, 2015, American journal of medical genetics. Part A.

Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom

P. Yu-Wai-Man, O. Mahroo, Nikolas Pontikos, 2020, Ophthalmology.

Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.

D. Hunt, G. Holder, M. Michaelides, 2005, Ophthalmology.

The zebrafish eye—a paradigm for investigating human ocular genetics

A. Webster, R. Richardson, M. Moosajee, 2017, Eye.

Complex Structural Variants Resolved by Short-Read and Long-Read Whole Genome Sequencing in Mendelian Disorders

Eleanor F. Dewhurst, Courtney E. French, Nicholas S. Gleadall, 2018, bioRxiv.

The ophthalmic presentation of Hermansky–Pudlak syndrome 6

G. Holder, V. Plagnol, G. Arno, 2016, British Journal of Ophthalmology.

Clinical characterization of CNGB 1 related autosomal recessive retinitis 1 pigmentosa

G. Holder, D. Phil., G. Arno, 2016 .

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Colin A. Johnson, Teunis J. P. van Dam, J. Shendure, 2015, Nature Cell Biology.

Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans.

K. Stirrups, C. Penkett, G. Holder, 2016, Ophthalmology.

Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.

S. Bhattacharya, S. Borrego, G. Antiñolo, 2010, Investigative ophthalmology & visual science.

A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy

G. Holder, P. Sergouniotis, A. Webster, 2010, Molecular vision.

Biallelic mutation of Protocadherin-21 (PCDH21) causes retinal degeneration in humans

S. Bhattacharya, A. Webster, A. Moore, 2008, Molecular vision.

Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene

A. Bird, A. Webster, R. Ali, 2006, British Journal of Ophthalmology.

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa

S. Halford, F. Raymond, K. Carss, 2018, Molecular vision.

Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

M. Bitner-Glindzicz, M. Claustres, E. Lenassi, 2013, Orphanet Journal of Rare Diseases.

Mutations in the CACNA1F and NYX genes in British CSNBX families

A. Meindl, A. Bird, A. Webster, 2003, Human mutation.

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies

Karen M. Oprych, C. Rivolta, H. Scholl, 2022, Human molecular genetics.

X-linked Retinoschisis: Deep Phenotyping and Genetic Characterization.

G. Virgili, O. Mahroo, M. Michaelides, 2021, Ophthalmology.

Autosomal Recessive Bestrophinopathy

G. Casalino, Nikolas Pontikos, M. Michaelides, 2020, Ophthalmology.

Autosomal recessive bestrophinopathy: clinical features, natural history and genetic findings in preparation for clinical trials

Nikolas Pontikos, M. Michaelides, A. Webster, 2020 .

Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model

R. Bowman, G. Holder, M. Caleo, 2021, Brain communications.

Unilateral pigmentary retinopathy: a retrospective case series

G. Holder, R. MacLaren, A. Webster, 2018, Acta ophthalmologica.

Chromosomal assignment of 311 sequences transcribed in human adult testis.

A. Webster, N. Spurr, M. Jones, 1997, Genomics.

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

R. MacLaren, P. Sergouniotis, A. Webster, 2012, Investigative ophthalmology & visual science.

The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

A. Need, J. Clayton-Smith, I. MacDonald, 2022, Nature Communications.

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Andrew R. Webster, Topun Austin, Kathleen Stirrups, 2018, Genome Medicine.

Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.

G. Holder, V. Plagnol, P. Sergouniotis, 2011, American journal of human genetics.

Encoding Group V Phospholipase A 2 , Cause Benign Fleck Retina

G. Holder, V. Plagnol, P. Sergouniotis, 2011 .

A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts

D. Hunt, A. Webster, A. Moore, 2007, Journal of Medical Genetics.

A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract

D. Hunt, S. Bhattacharya, A. Webster, 2005, Journal of Medical Genetics.

Childhood-onset Leber hereditary optic neuropathy

M. Votruba, P. Chinnery, P. Yu-Wai-Man, 2017, British Journal of Ophthalmology.

An association between stellate nonhereditary idiopathic foveomacular retinoschisis, peripheral retinoschisis and posterior hyaloid attachment.

L. da Cruz, E. Bloch, O. Mahroo, 2021, Retina.

Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy

Rui Chen, F. Raymond, K. Carss, 2020, Genetics in Medicine.

Novel heterozygous mutation in YAP1 in a family with isolated ocular colobomas

G. Arno, M. Michaelides, A. Webster, 2017, Ophthalmic genetics.

Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene.

F. Cremers, G. Arno, A. Webster, 2022, Ophthalmology.

Quantifying the Separation Between the Retinal Pigment Epithelium and Bruch's Membrane using Optical Coherence Tomography in Patients with Inherited Macular Degeneration

Kunny C Dans, W. Freeman, O. Mahroo, 2020, Translational vision science & technology.

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

R. Holt, E. Volpi, G. Holder, 2014, Ophthalmology.

Laser clearance of drusen deposit in patients with autosomal dominant drusen (p.Arg345Trp in EFEMP1).

R. Wilke, E. Lenassi, A. Webster, 2013, American journal of ophthalmology.

Retinal structure, function, and molecular pathologic features in gyrate atrophy.

P. Sergouniotis, E. Lenassi, A. Webster, 2012, Ophthalmology.

A Novel Method for Quantitative Serial Autofluorescence Analysis in Retinitis Pigmentosa Using Image Characteristics

F. Gekeler, S. Wagner, R. MacLaren, 2016, Translational vision science & technology.

Macular function assessed by microperimetry in patients with enhanced S-cone syndrome.

G. Rubin, F. Chen, R. MacLaren, 2010, Ophthalmology.

In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients

K. Willison, A. Webster, M. Cheetham, 2001, Journal of medical genetics.

Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

A. Bird, G. Holder, A. Webster, 2007, Investigative ophthalmology & visual science.

Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.

A. Stockman, C. Ripamonti, G. Holder, 2012, Investigative ophthalmology & visual science.

Development of a genotyping microarray for Usher syndrome

C. Cremers, M. Bitner-Glindzicz, E. van Wijk, 2006, Journal of Medical Genetics.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Ischaemic retinopathy occurring in patients receiving bone marrow allografts and campath-1G: a clinicopathological study.

A. Webster, A. Moore, J. Anderson, 1995, The British journal of ophthalmology.

An atypical case of choroidal neovascularization associated with pseudoxanthoma elasticum treated with intravitreal bevacizumab: a case report

A. Webster, M. Karampelas, Vasileios Soumplis, 2013, BMC Research Notes.

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

John Bradbury, Eamonn Sheridan, Rohit Shetty, 2013, American journal of human genetics.

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM

F. Raymond, K. Carss, G. Arno, 2017, Retina.

The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies

A. Bird, O. Mahroo, Nikolas Pontikos, 2020, Progress in Retinal and Eye Research.

Mechanism and evidence of nonsense suppression therapy for genetic eye disorders

A. Webster, R. Richardson, M. Moosajee, 2017, Experimental eye research.

An analysis of allelic variation in the ABCA4 gene.

V. Sheffield, S. Jacobson, T. Casavant, 2001, Investigative ophthalmology & visual science.

Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.

G. Holder, S. Halford, V. Plagnol, 2016, JAMA ophthalmology.

Characterization of CDH 3-Related Congenital Hypotrichosis With JuvenileMacular Dystrophy

G. Holder, S. Halford, V. Plagnol, 2016 .

The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.

Dorothy A. Thompson, G. Holder, V. Plagnol, 2014, Investigative ophthalmology & visual science.

Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs

L. da Cruz, P. Coffey, A. Webster, 2017, Scientific Reports.

Visual Psychophysics and Physiological Optics Dark-Adaptation Functions in Molecularly Confirmed Achromatopsia and the Implications for Assessment in Retinal Therapy Trials

F. Fitzke, M. Michaelides, A. Webster, 2014 .

Congenital stationary night blindness and a “Schubert-Bornschein” type electrophysiology in a family with dominant inheritance

F W Fitzke, A C Bird, S A Kabanarou, 2004, British Journal of Ophthalmology.

Validation of copy number variation analysis for next-generation sequencing diagnostics

Binay Panda, Christopher Campbell, Saurabh Gupta, 2017, European Journal of Human Genetics.

Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa

S. Letteboer, L. Hetterschijt, R. Roepman, 2017, Journal of Medical Genetics.

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

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

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

F. Cremers, G. Holder, F. Raymond, 2016, Investigative ophthalmology & visual science.

Molecular and Clinical Findings in Patients With Knobloch Syndrome.

G. Holder, Rui Chen, G. Arno, 2016, JAMA ophthalmology.

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease

Jonathan E. Dickerson, S. Bhaskar, G. Hall, 2012, Journal of Medical Genetics.

Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease.

Maureen Neitz, Alfredo Dubra, Edwin M Stone, 2012, American journal of ophthalmology.

Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene

P. Sergouniotis, A. Webster, A. Moore, 2011, Eye.

Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1

Dorothy A. Thompson, G. Holder, P. Sergouniotis, 2010, British Journal of Ophthalmology.

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

Christopher Campbell, Rachel L. Taylor, Catriona Tate, 2017, Journal of Medical Genetics.

Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service

M. Michaelides, A. Webster, A. Moore, 2017, Clinical genetics.

Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.

P. Sieving, G. Holder, A. Webster, 2013, Human molecular genetics.

Usher syndrome: a review of the clinical phenotype, genes and therapeutic strategies

M. Bitner-Glindzicz, A. Webster, M. Toms, 2015 .

Update on Usher syndrome

M. Bitner-Glindzicz, A. Webster, L. Luxon, 2009, Current opinion in neurology.

Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31.

Sue Povey, S. Povey, A. Webster, 2004, Human molecular genetics.

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

F. Cremers, K. Carss, G. Arno, 2019, Genetics in Medicine.

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

F. Grassmann, H. Stöhr, F. Cremers, 2019, Genetics in Medicine.

Expansion of ocular phenotypic features associated with mutations in ADAMTS18.

Birgit Lorenz, Dorothy A. Thompson, Gavin Arno, 2014, JAMA ophthalmology.

Spectrum of mutations in USH2A in British patients with Usher syndrome type II.

A. Bird, S. Bhattacharya, W. Kimberling, 2001, Experimental eye research.

Genetic influence on early age-related maculopathy: a twin study.

Harold Snieder, Tim D Spector, T. Spector, 2002, Ophthalmology.

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

S. Mundlos, S. Mead, M. Mhlanga, 2020, American journal of human genetics.

Human Mutation

T. Rosenberg, F. Raymond, K. Carss, 2019 .

Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.

G. Abecasis, A. Swaroop, D. Breuer, 2009, American journal of human genetics.

A 112 kb deletion in chromosome 19q13.42 leads to retinitis pigmentosa.

S. Bhattacharya, A. Webster, N. Waseem, 2011, Investigative ophthalmology & visual science.

Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.

A. Bird, S. Bhattacharya, A. Webster, 2007, Investigative ophthalmology & visual science.

Chapter 16 – Molecular Genetics of Retinal Disease

V. Sheffield, E. Stone, A. Webster, 2006 .

A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity

U. Wolfrum, K. Nagel-Wolfrum, V. Plagnol, 2013, Human mutation.

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

A. Webster, M. Cheetham, D. Bamiou, 2003, Journal of medical genetics.

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data

Stephanie Halford, Julius O. B. Jacobsen, Daniel Greene, 2017, Bioinform..

A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations.

K. Tsubota, E. Stone, G. Holder, 2013, American journal of ophthalmology.

The clinical effect of homozygous ABCA4 alleles in 18 patients.

K. Tsubota, G. Holder, K. Tsunoda, 2013, Ophthalmology.

Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43

A. Bird, A. Webster, A. Moore, 2000, Journal of medical genetics.

hereditary and sporadic chronic pancreatitis ) gene in PSTI secretory trypsin inhibitor ( Mutational analysis of the human pancreatic

A. Bird, A. Webster, A. Moore, 1999 .

Germline Mutations in the n Hippel-Lindau Disease (VrwL) Gene in Families From America, Europe, and Japan

W. Linehan, L. Schmidt, S. Richard, 1996 .

Germline mutations in the Von Hippel‐Lindau disease (VHL) gene in families from North America, Europe, and Japan

W. Linehan, L. Schmidt, S. Richard, 1996, Human mutation.

Clinical Features and Multi-Modality Imaging of Isolated Retinal Astrocytic Hamartoma.

M. Michaelides, A. Webster, A. Moore, 2019, Ophthalmic surgery, lasers & imaging retina.

A clinical and molecular genetic analysis of solitary ocular angioma.

A. Bird, Z. Gregor, A. Webster, 1999, Ophthalmology.

Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).

G. Holder, P. Sergouniotis, A. Webster, 2011, Ophthalmology.

Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration

J. Heckenlively, K. Branham, N. Khan, 2019, British Journal of Ophthalmology.

Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function.

K. Tsubota, G. Holder, K. Tsunoda, 2013, American journal of ophthalmology.

Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.

G. Holder, V. Plagnol, G. Arno, 2015, Investigative ophthalmology & visual science.

FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY

O. Mahroo, M. Michaelides, A. Webster, 2017, Retina.

Macula-predominant retinopathy associated with biallelic variants in RDH12

G. Arno, M. Michaelides, A. Webster, 2020, Ophthalmic genetics.

Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy

Dorothy A. Thompson, R. MacLaren, M. Michaelides, 2012, PloS one.

Progressive retinal dysfunction in diffuse unilateral subacute neuroretinitis

A. Bird, A. Webster, I. Audo, 2006, British Journal of Ophthalmology.

Clinical and molecular characterization of enhanced S-cone syndrome in children.

G. Holder, G. Arno, P. Sergouniotis, 2014, JAMA ophthalmology.

Genome-wide Association Study of Age-related Macular Degeneration Identifies Associated Variants in the Tnxb–fkbpl –notch4 Region of Chromosome 6p21.3 Clinical Neurosciences Research Grouping, Clinical and Experimental Sciences and 26 Genetic Epidemiology and Genomic Informatics

I. Deary, D. Clayton, Hin-Tak Leung, 2022 .

Common polymorphisms in the SERPINI2 gene are associated with refractive error in the 1958 British Birth Cohort.

P. Sham, D. Gerrelli, S. Bhattacharya, 2012, Investigative Ophthalmology and Visual Science.

The Roles of PAX6 and SOX2 in Myopia: lessons from the 1958 British Birth Cohort.

Claire L. Simpson, P. Sham, S. Bhattacharya, 2007, Investigative ophthalmology & visual science.

The Roles of PAX 6 and SOX 2 in Myopia : Lessons from the 1958 British Birth Cohort

Claire L. Simpson, P. Sham, S. Bhattacharya, 2007 .

Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype.

G. Abecasis, L. Smeeth, D. Weeks, 2012, International journal of epidemiology.

Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

J. Clayton-Smith, W. Newman, R. O’Keefe, 2019, bioRxiv.

Molecular characterization and ophthalmic investigation of a large family with type 2A Von Hippel-Lindau Disease.

E. Stone, A. Webster, R. Sui, 2001, Archives of ophthalmology.

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.

A. Stockman, G. Holder, M. Michaelides, 2005, Investigative ophthalmology & visual science.

Clinical and molecular characterization of familial exudative vitreoretinopathy associated with microcephaly.

S. Mansour, Nikolas Pontikos, G. Arno, 2019, American journal of ophthalmology.

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

F. Cremers, F. Raymond, H. Venselaar, 2016, Investigative ophthalmology & visual science.

The effect of the common c.2299delG mutation in USH2A on RNA splicing.

M. Bitner-Glindzicz, E. Lenassi, A. Webster, 2014, Experimental eye research.

Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease

F. Cremers, D. Piccolo, E. Bloch, 2020, Molecular therapy. Nucleic acids.

Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4.

M. Michaelides, A. Webster, A. Moore, 2016, Investigative ophthalmology & visual science.

Retina Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA 4

G. Holder, M. Michaelides, A. Webster, 2016 .

CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History

O. Mahroo, M. Michaelides, A. Webster, 2022, American journal of ophthalmology.

A clinical and molecular characterisation of CRB1-associated maculopathy

G. Holder, O. Mahroo, K. Carss, 2018, European Journal of Human Genetics.

A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations.

K. Tsubota, E. Stone, K. Tsunoda, 2013, Investigative ophthalmology & visual science.

ABCA4 gene screening by next-generation sequencing in a British cohort.

K. Tsubota, K. Tsunoda, M. Michaelides, 2013, Investigative ophthalmology & visual science.

Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice

A. Swaroop, S. Bhattacharya, J. Heckenlively, 2010, Proceedings of the National Academy of Sciences.

Evidence of retinal function using microperimetry following autologous retinal pigment epithelium-choroid graft in macular dystrophy.

G. Rubin, L. da Cruz, F. Chen, 2008, Investigative ophthalmology & visual science.

Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration

V. Sheffield, E. Stone, A. Webster, 1998, Nature Genetics.

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

T. de Ravel, I. Casteels, G. Arno, 2020, Scientific Reports.

Early onset non-syndromic retinal degeneration due to variants in INPP5E: phenotypic expansion of the ciliary gene previously associated with Joubert syndrome

A. Fulton, D. Sharon, C. Rivolta, 2020, medRxiv.

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

A. Fulton, D. Sharon, C. Rivolta, 2021, npj Genomic Medicine.

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.

M. Hims, D. Hunt, T. Rosenberg, 2002, Human molecular genetics.

cancer A case of inv dup ( 8 p ) with early onset breast

A. Bird, A. Webster, A. Moore, 2022 .

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

J. Sahel, W. Hauswirth, V. Greenstein, 2021, Human mutation.

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.

Mutation of ARHGEF 18 causes adult-onset retinal degeneration and underscores a key role of apicobasal polarity proteins in the maintenance of human photoreceptors

G. Holder, V. Plagnol, F. Raymond, 2022 .

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

G. Holder, A. Webster, A. Moore, 2015, American journal of ophthalmology.

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

R. Pfundt, H. Le Hir, P. Stoilov, 2017, American journal of human genetics.

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy

G. Holder, S. Bhattacharya, F. Alkuraya, 2010, Molecular vision.

Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C

D. Piccolo, A. Webster, M. Cheetham, 2023, Molecular therapy. Nucleic acids.

Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.

G. Holder, S. Bhattacharya, A. Webster, 2011, Investigative ophthalmology & visual science.

Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature

P. Yu-Wai-Man, F. Raymond, G. Lenaers, 2021, Investigative ophthalmology & visual science.

Clinical and preclinical therapeutic outcome metrics for USH2A-related disease

M. Bitner-Glindzicz, E. van Wijk, S. Baxendale, 2020, Human molecular genetics.

RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

G. Holder, V. Plagnol, P. Sergouniotis, 2013, Human mutation.

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

Nikolas Pontikos, A. Webster, Rodrigo M Young, 2022, JMIR formative research.

Ocular malformations and the fruits of develpmental genetics

A. Webster, A. Moore, A. Moore, 1994, Eye.

Clinical heterogeneity in a family with mutations in USH2A.

M. Bitner-Glindzicz, E. Lenassi, A. Webster, 2015, JAMA ophthalmology.

Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people.

G. Abecasis, D. Weeks, C. Klaver, 2011, American journal of epidemiology.

Investigation of SLA4A3 as a candidate gene for human retinal disease

C. Mellersh, M. Michaelides, A. Webster, 2016, Journal of Negative Results in BioMedicine.

Novel retinal and cone photoreceptor transcripts revealed by human macular expression profiling.

A. Webster, S. Peirson, M. Cheetham, 2007, Investigative ophthalmology & visual science.

Genome-wide RNA-Sequencing analysis identifies a distinct fibrosis gene signature in the conjunctiva after glaucoma surgery

Jonathan G. Lees, C. Orengo, J. Lees, 2017, Scientific Reports.

Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.

A. Webster, A. Moore, F. Richards, 1996, Journal of medical genetics.

“CONE DYSTROPHY WITH SUPERNORMAL ROD ELECTRORETINOGRAM”: A COMPREHENSIVE GENOTYPE/PHENOTYPE STUDY INCLUDING FUNDUS AUTOFLUORESCENCE AND EXTENSIVE ELECTROPHYSIOLOGY

D. Hunt, G. Holder, M. Michaelides, 2010, Retina.

Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.

D. Hunt, A. Bird, G. Holder, 2006, American journal of human genetics.

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.

G. Holder, P. Sergouniotis, M. Michaelides, 2009, American journal of human genetics.

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

M. Bitner-Glindzicz, A. Stockman, K. Brock, 2022, American journal of ophthalmology.

Clinical utility gene card for: Choroideremia

A. Webster, M. Seabra, S. Ramsden, 2013, European Journal of Human Genetics.

A Molecular Genetic Investigation of Two Families With Macular Dysplasia in Association With Digit Abnormalities

D. Hunt, M. Michaelides, A. Webster, 2008 .

Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.

Monkol Lek, Daniel G MacArthur, Vincent Plagnol, 2014, American journal of human genetics.

Clinical features and molecular genetics of Von Hippel-Lindau disease.

A. Webster, A. Moore, E. Maher, 1995, Ophthalmic genetics.

Functional observations in vitamin A deficiency: diagnosis and time course of recovery

A. Bird, G. Holder, A. Webster, 2007, Eye.

Prevalence of electronegative electroretinograms in a healthy adult cohort

C. Hammond, K. Williams, O. Mahroo, 2021, BMJ Open Ophthalmology.

Single‐base substitutions in the CHM promoter as a cause of choroideremia

E. McDonagh, I. MacDonald, E. Baple, 2017, Human mutation.

Visual Acuity after Retinal Gene Therapy for Choroideremia.

G. Holder, K. Xue, R. MacLaren, 2016, The New England journal of medicine.

A clinical molecular genetic service for United Kingdom families with choroideraemia.

G. Hall, A. Webster, A. Moore, 2013, European journal of medical genetics.

Isolated foveal retinoschisis as a cause of visual loss in young females

A. Bird, P. Stanga, A. Webster, 2003, The British journal of ophthalmology.

Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

G. Holder, R. Burgess, A. Webster, 2008, American journal of human genetics.

Quantitative Analysis of Retinal Structure Using Spectral-Domain Optical Coherence Tomography in RPGR-Associated Retinopathy

M. Michaelides, A. Webster, J. Carroll, 2017, American journal of ophthalmology.

Characterization of Retinal Function Using Microperimetry-Derived Metrics in Both Adults and Children With RPGR-Associated Retinopathy

M. Michaelides, A. Webster, R. Weleber, 2021, American journal of ophthalmology.

Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study

G. Holder, S. Bhattacharya, P. Foster, 2011, Molecular vision.

Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.

M. Michaelides, A. Webster, A. Robson, 2023, Ophthalmic genetics.

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

P. Bloom, D. Garway-Heath, P. Foster, 2019, Eye.

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)

A. Webster, A. Moore, S. Ramsden, 2012, European Journal of Human Genetics.

Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC)

L. da Cruz, P. Coffey, A. Webster, 2016, Scientific Reports.

The clinical features of retinal disease due to a dominant mutation in RPE65

G. Holder, R. Mukherjee, A. Webster, 2016, Molecular vision.

Childhood-onset autosomal recessive bestrophinopathy.

Dorothy A. Thompson, G. Holder, A. Webster, 2011, Archives of ophthalmology.

Bilateral giant macular schisis in a patient with enhanced S-cone syndrome from a family showing pseudo-dominant inheritance

A. Bird, A. Webster, A. Robson, 2008, British Journal of Ophthalmology.

Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome

Ramiro S. Maldonado, S. Tsang, E. Sankila, 2021, Ophthalmic genetics.

Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.

Valentina Cipriani, Linda M Luxon, Maria Bitner-Glindzicz, 2014, Ophthalmology.

Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics

P. Coffey, A. Webster, A. Dubis, 2019, Human molecular genetics.

Natural History Study of Retinal Structure, Progression, and Symmetry Using Ellipzoid Zone Metrics in RPGR-Associated Retinopathy

M. Michaelides, A. Webster, J. Bainbridge, 2019, American journal of ophthalmology.

Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone–rod dystrophy

A. Bird, F. Fitzke, M. Michaelides, 2007, British Journal of Ophthalmology.

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

D. Mackey, S. Bhattacharya, J. Beggs, 2010, Human mutation.

Prognosis for splicing factor PRPF8 Retinitis pigmentosa and correlation between human and yeast phenotypes

D. Mackey, S. Bhattacharya, J. Beggs, 2009 .

A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.

K. Palczewski, Kelian Sun, O. Mahroo, 2021, Human molecular genetics.

A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene

A. Stockman, R. Mukherjee, A. Webster, 2014, Eye.

Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia

A. Webster, V. Tailor, E. Schiff, 2021, International journal of molecular sciences.

Benign Yellow Dot Maculopathy: A New Macular Phenotype.

A. Rachitskaya, G. Holder, Z. Ahmed, 2017, Ophthalmology.

Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy

A. Webster, C. Futter, A. Dubis, 2019, Scientific Reports.

Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.

V. Plagnol, P. Sergouniotis, A. Webster, 2011, American journal of human genetics.

Visual Psychophysics and Physiological Optics Cone Dystrophy With ‘ ‘ Supernormal ’ ’ Rod ERG : Psychophysical Testing Shows Comparable Rod and Cone Temporal Sensitivity Losses With No Gain in Rod Function

A. Stockman, C. Ripamonti, M. Michaelides, 2014 .

A Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome

A. Webster, M. Westcott, J. Aróstegui, 2021, Ophthalmic genetics.

Visual Psychophysics and Physiological Optics Vision in Observers With Enhanced SCone Syndrome : An Excess of SCones but Connected Mainly to Conventional SCone Pathways

A. Stockman, C. Ripamonti, P. Sergouniotis, 2014 .

Residual cone vision without alpha-transducin.

Hannah E Smithson, Lindsay T Sharpe, Michel Michaelides, 2007, Journal of vision.

Residual cone vision without !-transducin

A. Stockman, L. Sharpe, H. Smithson, 2007 .

Circulating anti‐retinal antibodies as immune markers in age‐related macular degeneration

Santa Jeremy Ono, Andrew Webster, Catey Bunce, 2005, Immunology.

Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen

Rachel L. Taylor, S. Halford, V. Plagnol, 2019, Ophthalmology.

Visual Psychophysics and Physiological Optics Vision in Observers With Enhanced SCone Syndrome : An Excess of SCones but Connected Mainly to Conventional SCone Pathways

A. Stockman, C. Ripamonti, P. Sergouniotis, 2014 .

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Fengyuan Hu, Kevin Rue-Albrecht, Patrick Deegan, 2017, Circulation.

An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene

F. Fitzke, A. Webster, M. Cheetham, 2004, British Journal of Ophthalmology.

Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation.

A. Webster, A. Moore, E. Maher, 1999, Archives of ophthalmology.

An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects.

A. Webster, A. Moore, F. Richards, 1998, American journal of human genetics.

Predictive DNA testing in ophthalmology: View 2

A. Webster, 2003, British Journal of Ophthalmology.

Understanding the impact of genetic testing for inherited retinal dystrophy

G. Hall, K. Payne, A. Webster, 2013, European Journal of Human Genetics.

Predictive DNA testing in ophthalmology

D. Mackey, A. Webster, E. Héon, 2003, The British journal of ophthalmology.

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration

M. Votruba, P. Yu-Wai-Man, G. Arno, 2019, Annals of neurology.

Choroidal imaging in inherited retinal disease using the technique of enhanced depth imaging optical coherence tomography

Adnan Tufail, Praveen Patel, F. Chen, 2010, Graefe's Archive for Clinical and Experimental Ophthalmology.

The effect of pilocarpine on the glaucomatous visual field.

A. Luff, A. Webster, C. Canning, 1993, The British journal of ophthalmology.

A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene

G. Holder, P. Sergouniotis, A. Webster, 2012, Acta ophthalmologica.

Severe, Unstable Migraine: A Risk Factor for Postoperative Ophthalmic Artery Spasm?

J. Mehta, A. Webster, G. Rose, 2006, Orbit.

Autofluorescence findings in acute exudative polymorphous vitelliform maculopathy.

A. Bird, G. Holder, A. Webster, 2007, Archives of ophthalmology.

Estimation of systemic complement C3 activity in age-related macular degeneration.

S. Sivaprasad, A. Webster, S. Jenkins, 2007, Archives of ophthalmology.

Association of C-Reactive Protein Genetic Polymorphisms With Late Age-Related Macular Degeneration

A. Fletcher, R. Hogg, V. Cipriani, 2017, JAMA ophthalmology.

NMNAT1 mutations cause Leber congenital amaurosis

Marni J. Falk, J. Sahel, E. Berson, 2012, Nature Genetics.

SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance

P. Yu-Wai-Man, F. Raymond, G. Arno, 2021, Investigative ophthalmology & visual science.

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.

Colin A. Johnson, Eamonn Sheridan, Carmel Toomes, 2015, American journal of human genetics.

The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.

D. Hunt, G. Holder, E. White, 2010, Investigative ophthalmology & visual science.

The loss of the PDE6 deactivating enzyme, RGS9, results in precocious light adaptation at low light levels.

A. Stockman, L. Sharpe, C. Ripamonti, 2008, Journal of vision.

Identifying characteristic features of the retinal and choroidal vasculature in choroideremia using optical coherence tomography angiography

A. Webster, A. Dubis, M. Moosajee, 2017, Eye.

SynthEye: Investigating the Impact of Synthetic Data on Artificial Intelligence-assisted Gene Diagnosis of Inherited Retinal Disease

P. Keane, S. Wagner, K. Balaskas, 2022, Ophthalmology science.

The symmetry of phenotype between eyes of patients with early and late bilateral age-related macular degeneration (AMD)

T. Peto, A. Bird, C. Bunce, 2011, Graefe's Archive for Clinical and Experimental Ophthalmology.

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

J. Marsh, K. Carss, G. Arno, 2018, Ophthalmic genetics.

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

F. Grassmann, H. Stöhr, F. Cremers, 2019, Genetics in Medicine.

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

G. Holder, V. Plagnol, F. Raymond, 2016, Investigative ophthalmology & visual science.

A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls.

P. Sergouniotis, A. Webster, A. Moore, 2011, Investigative ophthalmology & visual science.

Responsiveness of choroidal neovascular membranes in patients with R345W mutation in fibulin 3 (Doyne honeycomb retinal dystrophy) to anti-vascular endothelial growth factor therapy.

R. MacLaren, A. Webster, E. Sohn, 2011, Archives of ophthalmology.

Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunction.

S. Bhattacharya, F. Fitzke, R. Andrews, 2006, Investigative ophthalmology & visual science.

Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease)

O. Mahroo, M. Michaelides, A. Webster, 2019, Ophthalmology.

Bietti crystalline retinopathy: report of retinal crystal deposition in male adolescent siblings.

P. Sergouniotis, A. Webster, A. Moore, 2012, Archives of ophthalmology.

Novel mutations in the CYP4v2 gene associated with Bietti crystalline corneoretinal dystrophy

S. Halford, A. Webster, A. Moore, 2007 .

Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations

G. Holder, R. Mukherjee, M. Michaelides, 2016, British Journal of Ophthalmology.

Delineating the expanding phenotype associated with SCAPER gene mutation

Rui Chen, F. Raymond, K. Carss, 2019, American journal of medical genetics. Part A.

Progression of Retinopathy Secondary to Maternally Inherited Diabetes and Deafness - Evaluation of Predicting Parameters.

K. Balaskas, A. Webster, C. Egan, 2020, American journal of ophthalmology.

Phenotypic findings in C1QTNF5 retinopathy (late‐onset retinal degeneration)

G. Holder, P. Sergouniotis, M. Michaelides, 2013, Acta ophthalmologica.

Whole Genome Sequencing Identifies a Partial Deletion of RTN4IP1 in a Patient With Isolated Optic Atrophy.

P. Yu-Wai-Man, G. Arno, A. Webster, 2022, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Clinical and biochemical effects of the E139K missense mutation in the TIMP3 gene, associated with Sorsby fundus dystrophy

A. Webster, S. Jenkins, S. Ramsden, 2009, Molecular vision.

A Novel TIMP3 Mutation and in vivo Imaging of a Family With Sorsby Fundus Dystrophy

A. Webster, S. Ramsden, N. Mckie, 2006 .

Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia

G. Holder, K. Xue, R. MacLaren, 2018, Nature Medicine.

QUANTITATIVE ANALYSIS OF HYPERAUTOFLUORESCENT RINGS TO CHARACTERIZE THE NATURAL HISTORY AND PROGRESSION IN RPGR-ASSOCIATED RETINOPATHY

T. Peto, M. Michaelides, A. Webster, 2017, Retina.

A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy

O. Mahroo, G. Arno, M. Michaelides, 2020, Eye.

Clinical characteristics of early retinal disease due to CDHR1 mutation

G. Holder, V. Plagnol, P. Sergouniotis, 2013, Molecular vision.

PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY: Detailed Clinical Study of a Large Cohort

M. Michaelides, A. Webster, A. Moore, 2019, Retina.

Foveal structure and visual function in nanophthalmos and posterior microphthalmos

P. Khaw, P. Foster, M. Michaelides, 2021, British Journal of Ophthalmology.

Clinicopathological case series of four patients with inherited macular disease.

G. Holder, L. da Cruz, F. Chen, 2009, Investigative ophthalmology & visual science.

MONOZYGOTIC TWINS DISCORDANT FOR ASYMMETRIC PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY

A. Webster, A. Robson, R. Ba-Abbad, 2020, Retinal cases & brief reports.

Prospective exploratory study to assess the safety and efficacy of aflibercept in cystoid macular oedema associated with retinitis pigmentosa

T. Peto, C. Bunce, W. Xing, 2020, British Journal of Ophthalmology.

Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2

M. Michaelides, A. Webster, A. Robson, 2019, Ophthalmic Genetics.

Awareness of olfactory impairment in a cohort of patients with CNGB1-associated retinitis pigmentosa

O. Mahroo, G. Arno, M. Michaelides, 2019, Eye.

Long-term follow-up of a case of posterior microphthalmos (PRSS56) with hyperautofluorescent retinal pigment epithelial deposits

S. Sivaprasad, A. Webster, A. Robson, 2020, European journal of ophthalmology.

Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs

L. da Cruz, P. Coffey, A. Webster, 2017, Scientific Reports.

KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 1

E. Zrenner, D. Sharon, K. Tsunoda, 2020, American journal of ophthalmology.

Clinical course and treatment outcomes of Sorsby fundus dystrophy.

S. Sivaprasad, A. Bird, A. Webster, 2008, American journal of ophthalmology.

Association between device measured and self-reported sitting in relation to depression: the 1970 British Cohort Study

E. Stamatakis, A. Webster, G. Batty, 2020 .

GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies

Nikolas Pontikos, G. Arno, M. Michaelides, 2019, American journal of ophthalmology.

Differential Light-induced Responses in Sectorial Inherited Retinal Degeneration*

P. Garriga, A. Webster, A. Moore, 2014, The Journal of Biological Chemistry.

Sectorial Inherited Retinal Degeneration Differential Light-induced Responses in Molecular Bases of Disease :

P. Garriga, A. Webster, A. Moore, 2014 .

Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies

M. Michaelides, A. Webster, A. Moore, 2018, Ophthalmology.

RP2-associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.

O. Mahroo, Nikolas Pontikos, M. Michaelides, 2022, Ophthalmology.

Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data

Stephanie Halford, Julius O. B. Jacobsen, Susan M. Downes, 2016, bioRxiv.

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

A. Need, C. Rivolta, M. Bleda, 2022, npj Genomic Medicine.

Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation

E. Birney, Tesca Fitzgerald, A. Khawaja, 2022, medRxiv.

NMNAT 1 Mutations Cause Leber Congenital Amaurosis

Marni J. Falk, J. Sahel, E. Berson, 2013 .

Transcorneal Electrical Stimulation for the Treatment of Retinitis Pigmentosa: A Multicenter Safety Study of the OkuStim® System (TESOLA-Study)

B. Wilhelm, E. Zrenner, F. Gekeler, 2019, Ophthalmic Research.

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

D. Garway-Heath, A. Webster, S. Low, 2018, Ophthalmic genetics.

Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy

A. Bird, O. Mahroo, G. Arno, 2019, JAMA ophthalmology.

Characterisation of microvascular abnormalities using OCT angiography in patients with biallelic variants in USH2A and MYO7A

Ahmed M. Hagag, A. Webster, A. Dubis, 2019, British Journal of Ophthalmology.

Characterization of microvascular abnormalities using OCT angiography in patients with biallelic variants in USH 2 A and MYO 7 A

Ahmed M. Hagag, A. Webster, M. Moosajee, 2019 .

Exome sequencing reveals ADAM9 mutations in a child with cone‐rod dystrophy

V. Plagnol, G. Arno, A. Webster, 2015, Acta ophthalmologica.

Prognostication in Stargardt disease using Fundus Autofluorescence: Improving Patient Care.

O. Mahroo, M. Michaelides, A. Webster, 2023, Ophthalmology.

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus

V. Cipriani, Nikolas Pontikos, G. Arno, 2017, Scientific Reports.

Retinal Architecture in RGS9- and R9AP-Associated Retinal Dysfunction (Bradyopsia)

A. Dubra, M. Michaelides, A. Webster, 2015, American journal of ophthalmology.

Epiretinal membranes presenting in two young adults with evidence of persistent primary vitreous

A. Webster, K. Jordan, 1994, Eye.

CELLULAR IMAGING OF THE TAPETAL-LIKE REFLEX IN CARRIERS OF RPGR-ASSOCIATED RETINOPATHY

Christopher S. Langlo, Margaret R. Strampe, A. Dubra, 2017, Retina.

Clinical andMolecular Characterization of Enhanced SCone Syndrome in Children

G. Holder, G. Arno, P. Sergouniotis, 2014 .

Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders

Josephine L. Gao, J. Duncan, M. Krawczyński, 2023, bioRxiv.

Antisense oligonucleotide therapy for the common Stargardt disease type 1-causing variant in ABCA4

D. Piccolo, A. Webster, M. Cheetham, 2022, bioRxiv.

Coats-like vasculopathy in inherited retinal disease: prevalence, characteristics, genetics and management.

O. Mahroo, M. Michaelides, A. Webster, 2023, Ophthalmology.

CERKL-associated retinal dystrophy: Genetics, Phenotype and Natural History.

O. Mahroo, M. Michaelides, A. Webster, 2023, Ophthalmology. Retina.

Variability of retinopathy consequent upon novel mutations in LAMA1

G. Arno, A. Webster, A. Robson, 2022, Ophthalmic genetics.

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

F. Cremers, K. Carss, G. Arno, 2019, Genetics in Medicine.

Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).

Michel Michaelides, G. Holder, M. Michaelides, 2010, Ophthalmology.

An Analysis of the Effect of ABCA4 p.Asn1868Ile Genotypes on Retinal Structure in 26,558 Participants in the UK Biobank

C. Hammond, O. Mahroo, P. Hysi, 2023, Investigative ophthalmology & visual science.

No strong evidence to date for an association between RIMS1 and retinal dystrophy

O. Mahroo, G. Arno, M. Michaelides, 2022, Documenta Ophthalmologica.

Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1

O. Mahroo, G. Arno, M. Michaelides, 2022, Investigative ophthalmology & visual science.

Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy

J. Pulido, O. Mahroo, G. Arno, 2020, Ophthalmology.

Systematic Reviews and Meta- and Pooled Analyses Variations in Apolipoprotein E FrequencyWith Age in a Pooled Analysis of a Large Group of Older People

G. Abecasis, D. Weeks, C. Klaver, 2011 .

campath-1 G : a clinicopathological study . receiving bone marrow allografts and Ischaemic retinopathy occurring in patients

A. Webster, J. Anderson, E. M. Richards, 2022 .

Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype.

G. Abecasis, L. Smeeth, D. Weeks, 2012, International journal of epidemiology.

Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2

G. Holder, M. Michaelides, A. Webster, 2011, British Journal of Ophthalmology.

Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.

P. Sieving, G. Holder, A. Webster, 2013, Human molecular genetics.

RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

G. Holder, V. Plagnol, P. Sergouniotis, 2013, Human mutation.

The loss of the PDE6 deactivating enzyme, RGS9, results in precocious light adaptation at low light levels.

A. Stockman, L. Sharpe, C. Ripamonti, 2008, Journal of vision.

Title: SSBP1 mutations in dominant optic atrophy with variable retinal degeneration Running head: SSBP1 missense variants cause optic atrophy

Wai-man, M. Votruba, M. Michaelides, 2019 .

PRPH2 MUTATIONS AS A CAUSE OF ELECTRONEGATIVE ERG

G. Holder, A. Webster, A. Robson, 2013, Retina.

Novel mutations and electrophysiological findings in RGS9 and R9AP associated retinal dysfunction (Bradyopsia)

G. Holder, M. Michaelides, A. Webster, 2009 .

ABCA4 gene screening by next-generation sequencing in a British cohort.

K. Tsubota, K. Tsunoda, M. Michaelides, 2013, Investigative ophthalmology & visual science.

Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia

Anna Rudenko, Kanmin Xue, Susan M Downes, 2018, Nature Medicine.

Diverse clinical phenotypes associated with a nonsense mutation in FAM161A

S. Bhattacharya, P. Sergouniotis, A. Webster, 2015, Eye.

Retinal dysfunction and high myopia in association with 48,XXYY syndrome

G. Holder, A. Webster, A. Hardcastle, 2013, Documenta Ophthalmologica.

The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.

D. Hunt, G. Holder, E. White, 2010, Investigative ophthalmology & visual science.

Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography

P. Keane, S. Wagner, O. Mahroo, 2022, Translational vision science & technology.

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

G. Holder, F. Raymond, K. Carss, 2017, Investigative ophthalmology & visual science.