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ARVO Annual Meeting Abstract July 2019

Genome-wide association study on a large multi-ethnic sample identifies new genetic loci that predispose to keratoconus

Alison J Hardcastle; Pirro G Hysi; Karla Rojas-Lopez; Petra Liskova; Alice E Davidson; Manir Ali; Kathryn P Burdon; David O'Brart; Chris Inglehearn; Paul N Baird; Christopher J Hammond; Stephen J Tuft

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4249. doi:

ARVO Annual Meeting Abstract June 2017

Sequence analysis of 108 genes associated with non-syndromic inherited retinal diseases in 3,200 probands using molecular inversion probes

Muhammad Khan; Perez-Carro Raquel; Dror Sharon; Robert K Koenekoop; Carlo Rivolta; Elfride De Baere; Chris F Inglehearn; Susanne Kohl; Christian P Hamel; Tamar Ben-Yosef; Berta De la Cerda; Daniel F Schorderet; Sandro Banfi; Carmen Ayuso; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2758. doi:

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. doi:

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. doi:

Retina June 2017

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

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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. doi: https://doi.org/10.1167/iovs.16-20608

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Molecular inversion probe based sequence analysis of 108 genes associated with non-syndromic inherited retinal disease in 4,000 probands

M Imran Khan; Gilissen Christian; Ayuso Carmen; Dror Sharon; Robert K Koenekoop; Carlo Rivolta; Elfride De Baere; Chris F Inglehearn; Alexander Hoischen; Frans P Cremers

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

Retina December 2015

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

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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. doi: 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. doi:

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. doi:

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. doi:

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. doi:

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. doi:

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. doi:

Genetics August 2013

Mutational Analysis of MIR184 in Sporadic Keratoconus and Myopia

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Judith Lechner; Ha Ae Bae; Jasenka Guduric-Fuchs; Aine Rice; Gowthaman Govindarajan; Salina Siddiqui; Layal Abi Farraj; Shea Ping Yip; Maurice Yap; Manoranjan Das; Emmanuelle Souzeau; Doug Coster; Richard A. Mills; Richard Lindsay; Tony Phillips; Paul Mitchell; Manir Ali; Chris F. Inglehearn; Periasamy Sundaresan; Jamie E. Craig; David A. Simpson; Kathryn P. Burdon; Colin E. Willoughby
TAGS: keratoconus, mutation, mutation analysis, myopia
Invest. Ophthalmol. Vis. Sci.. 2013; 54(8):5266-5272. doi: https://doi.org/10.1167/iovs.13-12035

Genetics May 2012

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

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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. doi: https://doi.org/10.1167/iovs.11-8629

Includes: Supplemental Content

ARVO Annual Meeting Abstract March 2012

Improved Response To Ranibizumab In Ex And Current Smokers With Age-related Macular Degeneration (AMD), But No Evidence That CFH, ARMS2/HTRA1 Or VEGF Genotypes Predict Treatment Outcome

Chris F. Inglehearn; Manir Ali; Richard Gale; Frances Cassidy; Deepali Varma; Louise M. Downey; Paul D. Baxter; Martin McKibbin

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):3325. doi:

ARVO Annual Meeting Abstract March 2012

Direct Sequencing of miR-184 and miR-205 in Sporadic Keratoconus

Judith Lechner; Durga Dash; Kathryn P. Burdon; Jamie E. Craig; Aine Rice; Chris F. Inglehearn; David A. Simpson; Colin E. Willoughby

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4219. doi:

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. doi:

ARVO Annual Meeting Abstract March 2012

In Vivo Spectral Domain Optical Coherence Tomography Retinal Imaging Of The Rdd Chicken Model Of Inherited Retinal Degeneration

Manir Ali; Paul Hocking; Mike Shires; Kenny Boyle; Chris F. Inglehearn; Martin McKibbin

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):5007. doi:

ARVO Annual Meeting Abstract March 2012

Mapping Collagen Orientation Changes In The Corneas Of Blindness Enlarged Globe (beg) Chicken Mutants

Sian R. Morgan; Craig Boote; Erin P. Dooley; Paul M. Hocking; Chris F. Inglehearn; Manir Ali; Thomas Sorensen; Keith M. Meek

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1098. doi:

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Genome-wide association study on a large multi-ethnic sample identifies new genetic loci that predispose to keratoconus

Sequence analysis of 108 genes associated with non-syndromic inherited retinal diseases in 3,200 probands using molecular inversion probes

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

Molecular inversion probe based sequence analysis of 108 genes associated with non-syndromic inherited retinal disease in 4,000 probands

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

Mutation screening in familial exudative vitreoretinopathy patients.

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.

Genetic investigation of patients with FEVR and microcephaly

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

Mutational Analysis of MIR184 in Sporadic Keratoconus and Myopia

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

Improved Response To Ranibizumab In Ex And Current Smokers With Age-related Macular Degeneration (AMD), But No Evidence That CFH, ARMS2/HTRA1 Or VEGF Genotypes Predict Treatment Outcome

Direct Sequencing of miR-184 and miR-205 in Sporadic Keratoconus

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

In Vivo Spectral Domain Optical Coherence Tomography Retinal Imaging Of The Rdd Chicken Model Of Inherited Retinal Degeneration

Mapping Collagen Orientation Changes In The Corneas Of Blindness Enlarged Globe (beg) Chicken Mutants

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