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ARVO Annual Meeting Abstract June 2024

The complexity of simple genetics: oligogenic patterns in albinism

Panos Sergouniotis; David Green; Vincent Michaud; Eulalie Lasseaux; Claudio Plaisant; Tomas Fitzgerald; Ewan Birney; Graeme C Black; Benoit Arveiler

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2170.

ARVO Annual Meeting Abstract June 2024

Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy

Eleanor Palmer; Karolina M Stepien; Christopher Campbell; Stephanie Barton; Christos Iosifidis; Arunabha Ghosh; Alexander Broomfield; Alison Woodall; Gisela Wilcox; Panagiotis I Sergouniotis; Graeme C Black

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5282.

ARVO Annual Meeting Abstract June 2022

Upstream variants causing reduced transcription and unusual presentation of recessive inherited retinal dystrophies

Jim Bellingham; Andrew R Webster; Fabiana Motta; Neringa Jurkute; Eva Lenassi; Graeme C Black; Jamie Ellingford; Omar Abdul Rahman Mahroo; Gavin Arno

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):514 – A0091.

Retina June 2021

North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants

PDF

David J. Green; Eva Lenassi; Cerys S. Manning; David McGaughey; Vinod Sharma; Graeme C. Black; Jamie M. Ellingford; Panagiotis I. Sergouniotis
TAGS: body tissue, datasets, macular dystrophy, phenotype, retina, gene expression, genetic screening, genes, enhancer elements, genetic
Invest. Ophthalmol. Vis. Sci.. 2021; 62(7):16. https://doi.org/10.1167/iovs.62.7.16

Includes: Supplemental Content

Physiology and Pharmacology May 2020

Small Molecules Restore Bestrophin 1 Expression and Function of Both Dominant and Recessive Bestrophinopathies in Patient-Derived Retinal Pigment Epithelium

PDF

Jingshu Liu; Rachel L. Taylor; Richard A. Baines; Lisa Swanton; Sally Freeman; Barbara Corneo; Achchhe Patel; Alan Marmorstein; Travis Knudsen; Graeme C. Black; Forbes Manson
TAGS: best1 gene, molecule, bestrophinopathy, small molecule, retinal pigment epithelium
Invest. Ophthalmol. Vis. Sci.. 2020; 61(5):28. https://doi.org/10.1167/iovs.61.5.28

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Expression of complement and other inflammatory pathway genes is co-ordinated in the human RPE cell transcriptome.

Paul N Bishop; Selina McHarg; Nicole Brace; Alexander W.W. Langford-Smith; Richard Unwin; Rahat Perveen; Graeme C. Black; Anthony Day; Simon John Clark

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3378.

Genetics January 2017

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

PDF

Rachel L. Taylor; Mark T. Handley; Sarah Waller; Christopher Campbell; Jill Urquhart; Alison M. Meynert; Jamie M. Ellingford; Deirdre Donnelly; Gisela Wilcox; I. Chris Lloyd; Helen Mundy; David R. FitzPatrick; Charu Deshpande; Jill Clayton-Smith; Graeme C. Black
TAGS: congenital cataract, family, massively-parallel genome sequencing, mutation, peroxisome biogenesis disorder, phenotype, cataract
Invest. Ophthalmol. Vis. Sci.. 2017; 58(1):594-603. https://doi.org/10.1167/iovs.16-21026

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Identification of 23 novel candidate genes for inherited retinal diseases in the European Retinal Disease Consortium

Galuh D.N. Astuti; Tamar Ben-Yosef; Susanne Kohl; Rando Allikmets; Graeme C.M. Black; Shomi S Bhattacharya; Christian P Hamel; M Imran Khan; Lonneke Haer-Wigman; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12)

ARVO Annual Meeting Abstract September 2016

Long term vision results following retinal gene therapy for choroideremia

Robert E MacLaren; Thomas L Edwards; Jasleen Jolly; Alun R Barnard; Kanmin Xue; Susan Downes; Graham E Holder; Graeme C.M. Black; Andrew J Lotery; Andrew Webster; Miguel Seabra

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12)

ARVO Annual Meeting Abstract September 2016

The expression of complement genes by retinal pigment epithelial cells from donors with and without AMD

Selina McHarg; Nicole Brace; Rahat Perveen; Graeme C.M. Black; Richard Unwin; Gregory S Hageman; Anthony John Day; Simon John Clark; Paul N Bishop

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):2638.

ARVO Annual Meeting Abstract September 2016

Diagnostic Utility of a Next Generation Sequencing Retinal Panel in a Māori and Polynesian population with Inherited Retinal Disease

Andrea L Vincent; Alix Coysh; Katherine Van Bysterveldt; Verity Frances Oliver; Graeme C.M. Black

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3157.

Genetics March 2016

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

PDF

Sarah Hull; Nicholas Owen; Farrah Islam; Dhani Tracey-White; Vincent Plagnol; Graham E. Holder; Michel Michaelides; Keren Carss; F. Lucy Raymond; Jean-Michel Rozet; Simon C. Ramsden; Graeme C. M. Black; Isabelle Perrault; Ajoy Sarkar; Mariya Moosajee; Andrew R. Webster; Gavin Arno; Anthony T. Moore
TAGS: biological transport, genes, mutation, family
Invest. Ophthalmol. Vis. Sci.. 2016; 57(3):1053-1062. https://doi.org/10.1167/iovs.15-17976

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2015

The distinct clinical features of adult-onset retinal dystrophy associated with carboxyl mutations in the RPGR-ORF15 gene

Rola Ba-Abbad; Panagiotis Sergouniotis; Anthony T Moore; Michel Michaelides; Graeme C.M. Black; Simon C. Ramsden; Anthony G Robson; Graham E Holder; Vincent Plagnol; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2896.

ARVO Annual Meeting Abstract June 2015

Novel Genotype-Phenotype correlations in a Māori and Polynesian Population with Autosomal Recessive Inherited Retinal Disease, using a Next Generation Targeted Retinal Panel.

Andrea L Vincent; Nandoun Abeysekera; Katherine van Bysterveldt; Verity Frances Oliver; Graeme C.M. Black

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2899.

Genetics February 2015

Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy

PDF

Rachel L. Gillespie; Jill Urquhart; Simon C. Lovell; Susmito Biswas; Neil R. A. Parry; Daniel F. Schorderet; I. Chris Lloyd; Jill Clayton-Smith; Graeme C. Black
TAGS: congenital abnormality, congenital cataract, mutation, proteins, retinal dystrophies, syndrome, phenotype
Invest. Ophthalmol. Vis. Sci.. 2015; 56(2):883-891. https://doi.org/10.1167/iovs.14-15861

Genetics October 2014

The Phenotypic Variability of Retinal Dystrophies Associated With Mutations in CRX , With Report of a Novel Macular Dystrophy Phenotype

PDF

Sarah Hull; Gavin Arno; Vincent Plagnol; Sarah Chamney; Isabelle Russell-Eggitt; Dorothy Thompson; Simon C. Ramsden; Graeme C. M. Black; Anthony Robson; Graham E. Holder; Anthony T. Moore; Andrew R. Webster
TAGS: macular dystrophy, mutation, phenotype, retinal dystrophies, family
Invest. Ophthalmol. Vis. Sci.. 2014; 55(10):6934-6944. https://doi.org/10.1167/iovs.14-14715

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2014

Spectrum of CHM mutations, structural retinal features and their progression in choroideremia patients within the UK

Mariya Moosajee; Simon C Ramsden; Graeme C Black; Anthony T Moore; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6431.

ARVO Annual Meeting Abstract April 2014

Whole Exome Sequencing for Sjögren’s Reticular Dystrophy

Scott E Brodie; Vivek Rudrapatna; Michael Linderman; George Diaz; Milind Mahajan; Hardik Shah; Pallavi Devchand; Eric Schadt; Bart Peter Leroy; Graeme C Black

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6433.

ARVO Annual Meeting Abstract April 2014

Improved visual function in patients with choroideremia undergoing subretinal gene therapy

Robert E MacLaren; Markus Groppe; Alun R Barnard; Tanya Tolmachova; Frans P Cremers; Graeme C Black; Andrew Lotery; Susan M Downes; Andrew Webster; Miguel C Seabra; Choroideremia Gene Therapy Study Group

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):832.

ARVO Annual Meeting Abstract April 2014

Development of allele specific gene silencing siRNAs for TGFBI Arg124Cys in Lattice Corneal Dystrophy Type I

David G Courtney; Sarah D Atkinson; Johnny E Moore; Eleonora Maurizi; Graziella Pellegrini; Graeme C Black; Forbes D Manson; Gary Hin-Fai Yam; Irwin W McLean; Tara C B Moore

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):4069.

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The complexity of simple genetics: oligogenic patterns in albinism

Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy

Upstream variants causing reduced transcription and unusual presentation of recessive inherited retinal dystrophies

North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants

Small Molecules Restore Bestrophin 1 Expression and Function of Both Dominant and Recessive Bestrophinopathies in Patient-Derived Retinal Pigment Epithelium

Expression of complement and other inflammatory pathway genes is co-ordinated in the human RPE cell transcriptome.

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

Identification of 23 novel candidate genes for inherited retinal diseases in the European Retinal Disease Consortium

Long term vision results following retinal gene therapy for choroideremia

The expression of complement genes by retinal pigment epithelial cells from donors with and without AMD

Diagnostic Utility of a Next Generation Sequencing Retinal Panel in a Māori and Polynesian population with Inherited Retinal Disease

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

The distinct clinical features of adult-onset retinal dystrophy associated with carboxyl mutations in the RPGR-ORF15 gene

Novel Genotype-Phenotype correlations in a Māori and Polynesian Population with Autosomal Recessive Inherited Retinal Disease, using a Next Generation Targeted Retinal Panel.

Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy

The Phenotypic Variability of Retinal Dystrophies Associated With Mutations in CRX , With Report of a Novel Macular Dystrophy Phenotype

Spectrum of CHM mutations, structural retinal features and their progression in choroideremia patients within the UK

Whole Exome Sequencing for Sjögren’s Reticular Dystrophy

Improved visual function in patients with choroideremia undergoing subretinal gene therapy

Development of allele specific gene silencing siRNAs for TGFBI Arg124Cys in Lattice Corneal Dystrophy Type I

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