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ARVO Annual Meeting Abstract June 2025

RetiGene: A Comprehensive Gene Atlas for Inherited Retinal Diseases (IRDs)

Elifnaz Celik; Mathieu Quinodoz; Dhryata Kamdar; Francesca Cancellieri; Karolina Kaminska; Mukhtar Ullah; Gema García Garcia; Virginie Gisèle Peter; Marianthi Karali; Nina Schneider; José M. Millán; Robert K Koenekoop; Frauke Coppieters; Carmel Toomes; Chris Ingelhearn; Vasiliki Kalatzis; Beatrice Bocquet; Dror Sharon; Sandro Banfi; Carmen Ayuso; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):5125.

ARVO Annual Meeting Abstract June 2023

Identification of CTNND1 mutations in Familial Exudative Vitreoretinopathy

Dong Sun; Robert Henderson; Emma Clement; Genomics England Research Consortium; Chris Inglehearn; James A. Poulter; Carmel Toomes

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4536.

ARVO Annual Meeting Abstract June 2023

ABCA4 variant phasing and complete haplo-genotype analysis for singletons using Cas9 targeted ultra-long read nanopore sequencing

Gavin Arno; Benjamin McClinton; Neringa Jurkute; Fabiana Louise Motta; Manir Ali; Christopher M Watson; Chris Inglehearn; Carmel Toomes; Michel Michaelides; Omar Abdul Rahman Mahroo; Andrew R Webster

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4533.

ARVO Annual Meeting Abstract June 2022

Characterization of Deletions using Oxford Nanopore Long-Read Sequencing

Benjamin Mc Clinton; Laura A. Crinnion; Martin McKibbin; Rajarshi Mukherjee; Manir Ali; Chris Inglehearn; Christopher M. Watson; Carmel Toomes

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1597 – A0386.

ARVO Annual Meeting Abstract June 2021

Using Oxford Nanopore long-range sequencing to phase ABCA4

Benjamin Mc Clinton; Laura A. Crinnion; Manir Ali; Chris Inglehearn; Christopher M. Watson; Carmel Toomes

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1541.

ARVO Annual Meeting Abstract June 2021

A founder allele deleting CRX causes late-onset macular disease by haploinsufficiency

samar Yahya; Claire Smith; James Poulter; Martin McKibbin; Gavin Arno; Jamie Ellingford; Andrew Webster; Graeme Black; Manir Ali; Carmel Toomes; Chris Inglehearn

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1536.

ARVO Annual Meeting Abstract June 2021

Exploring the role of putative cis -regulatory variants within the 5’UTR of the ABCA4 gene in ~6,900 cases with inherited retinal disease

Alfredo Dueñas Rey; Muhammad Imran Khan; Mubeen Khan; Miriam Bauwens; Toon Rosseel; Dror Sharon; Robert K Koenekoop; Gavin Arno; Andrew Webster; Carmel Toomes; Claire-Marie Dhaenens; Frans P.M. Cremers; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1451.

ARVO Annual Meeting Abstract June 2017

Genome wide analysis of enucleated Coats eyes

Denisa Dzulova; Carla Sanjurjo Soriano; James A. Poulter; Ian M. Carr; Waleed Abed Alnabi; Nutsuchar Wangtiraumnuay; Ralph Eagle; Carol L Shields; Alex V Levin; Carmel Toomes

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2783.

ARVO Annual Meeting Abstract June 2017

Mutations in SLC38A8 and FOXD1 in patients with nystagmus and foveal hypoplasia.

Emma Catherine Lord; James A. Poulter; Andrew R Webster; Panagiotis Sergouniotis; Kamron N Khan; Paul J Benke; Lee Friedman; Manir Ali; Chris F Inglehearn; Carmel Toomes

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2786.

ARVO Annual Meeting Abstract June 2017

Defects in the cell signaling mediator β-catenin ( CTNNB1 ) cause the retinal vascular condition FEVR

Carmel Toomes; Evangelia S Panagiotou; James A. Poulter; Carla Sanjurjo Soriano; Hiroyuki Kondo; Atsushi Hiyoshi; Hon-Yin Brian Chung; Mark E Tafoya; Manir Ali; Chris F Inglehearn

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2788.

Retina June 2017

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

PDF

Kamron N. Khan; Mohammed E. El-Asrag; Cristy A. Ku; Graham E. Holder; Martin McKibbin; Gavin Arno; James A. Poulter; Keren Carss; Tejaswi Bommireddy; Saghar Bagheri; Benjamin Bakall; Hendrik P. Scholl; F. Lucy Raymond; Carmel Toomes; Chris F. Inglehearn; Mark E. Pennesi; Anthony T. Moore; Michel Michaelides; Andrew R. Webster; Manir Ali; for NIHR BioResource-Rare Diseases and UK Inherited Retinal Disease Consortium
TAGS: alleles, mutation, photoreceptors, presynaptic terminals, proteins, retinal dystrophies, retinal diseases, retina, fluorescent antibody technique, retinitis pigmentosa
Invest. Ophthalmol. Vis. Sci.. 2017; 58(7):2906-2914. https://doi.org/10.1167/iovs.16-20608

Includes: Supplemental Content

Retina December 2015

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

PDF

Panagiotis I. Sergouniotis; Martin McKibbin; Anthony G. Robson; Hanno J. Bolz; Elfride De Baere; Philipp L. Müller; Raoul Heller; Mohammed E. El-Asrag; Kristof Van Schil; Vincent Plagnol; Carmel Toomes; UK Inherited Retinal Disease Consortium; Manir Ali; Graham E. Holder; Peter Charbel Issa; Bart P. Leroy; Chris F. Inglehearn; Andrew R. Webster
TAGS: autosomal recessive inheritance, genes, mutation, retinal diseases, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2015; 56(13):8083-8090. https://doi.org/10.1167/iovs.15-17604

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2015

Mutation screening in familial exudative vitreoretinopathy patients.

Carla Sanjurjo Soriano; Evangelia Panagiotou; James Poulter; Denisa Dzulova; Kamron Khan; Jacquelyn Bond; Manir Ali; Chris Inglehearn; Carmel Toomes

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1257.

ARVO Annual Meeting Abstract June 2015

Genetic investigation of patients with FEVR and microcephaly

Evangelia Panagiotou; James Poulter; Vernon Long; Manir Ali; Chris Inglehearn; Carmel Toomes

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):5985.

ARVO Annual Meeting Abstract June 2015

Mutations in MFSD8 can indeed cause a nonsyndromic recessive macular dystrophy.

Mohammed Elsayed Elasrag; Martin McKibbin; James Poulter; Chris Inglehearn; Carmel Toomes; Manir Ali

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2877.

ARVO Annual Meeting Abstract June 2015

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

Manir Ali; Mohammed Elsayed Elasrag; Panagiotis Sergouniotis; Martin McKibbin; Vincent Plagnol; Zakia Abdelhamed; Declan McKeefry; Chris Inglehearn; Andrew Webster; Carmel Toomes; UK Inherited Retinal Disease Consortium

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2888.

ARVO Annual Meeting Abstract June 2015

The role of genetic variants in TCF4 and LOXHD1 in Fuchs Endothelial Dystrophy in a UK Cohort

Chris Inglehearn; Salina Siddiqui; Aine Rice; Jose Ivorra; James Poulter; James Ball; Andrew Morrell; Nigel James; Carmel Toomes; Manir Ali

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2517.

ARVO Annual Meeting Abstract April 2014

Determining the genetic basis of familial Keratoconus by autozygosity mapping and whole exome sequencing

Layal Abi Farraj; Salina Siddiqui; Aine Rice; Gretta Abi-Sleymane; Carmel Toomes; Chris F Inglehearn; Manir Ali

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6410.

Genetics May 2012

Recessive Mutations in TSPAN12 Cause Retinal Dysplasia and Severe Familial Exudative Vitreoretinopathy (FEVR)

PDF

James A. Poulter; Alice E. Davidson; Manir Ali; David F. Gilmour; David A. Parry; Helen A. Mintz-Hittner; Ian M. Carr; Helen M. Bottomley; Vernon W. Long; Louise M. Downey; Panagiotis I. Sergouniotis; Genevieve A. Wright; Robert E. MacLaren; Anthony T. Moore; Andrew R. Webster; Chris F. Inglehearn; Carmel Toomes
TAGS: familial exudative vitreoretinopathies, mutation, retinal dysplasia, family
Invest. Ophthalmol. Vis. Sci.. 2012; 53(6):2873-2879. https://doi.org/10.1167/iovs.11-8629

Includes: Supplemental Content

ARVO Annual Meeting Abstract March 2012

Genetic Analysis Of A Family With Familial Exudative Vitreoretinopathy And Incontinentia Pigmenti

James A. Poulter; Louise M. Downey; Donna Billingham; Ruth S. Charlton; Manir Ali; Chris F. Inglehearn; Carmel Toomes

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4561.

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RetiGene: A Comprehensive Gene Atlas for Inherited Retinal Diseases (IRDs)

Identification of CTNND1 mutations in Familial Exudative Vitreoretinopathy

ABCA4 variant phasing and complete haplo-genotype analysis for singletons using Cas9 targeted ultra-long read nanopore sequencing

Characterization of Deletions using Oxford Nanopore Long-Read Sequencing

Using Oxford Nanopore long-range sequencing to phase ABCA4

A founder allele deleting CRX causes late-onset macular disease by haploinsufficiency

Exploring the role of putative cis -regulatory variants within the 5’UTR of the ABCA4 gene in ~6,900 cases with inherited retinal disease

Genome wide analysis of enucleated Coats eyes

Mutations in SLC38A8 and FOXD1 in patients with nystagmus and foveal hypoplasia.

Defects in the cell signaling mediator β-catenin ( CTNNB1 ) cause the retinal vascular condition FEVR

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

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

Mutation screening in familial exudative vitreoretinopathy patients.

Genetic investigation of patients with FEVR and microcephaly

Mutations in MFSD8 can indeed cause a nonsyndromic recessive macular dystrophy.

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

The role of genetic variants in TCF4 and LOXHD1 in Fuchs Endothelial Dystrophy in a UK Cohort

Determining the genetic basis of familial Keratoconus by autozygosity mapping and whole exome sequencing

Recessive Mutations in TSPAN12 Cause Retinal Dysplasia and Severe Familial Exudative Vitreoretinopathy (FEVR)

Genetic Analysis Of A Family With Familial Exudative Vitreoretinopathy And Incontinentia Pigmenti

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