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Retina May 2024

Sex Distributions in Non- ABCA4 Autosomal Macular Dystrophies

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Amit V. Mishra; Sandra Vermeirsch; Siying Lin; Maria P. Martin-Gutierrez; Mark Simcoe; Nikolas Pontikos; Elena Schiff; Thales A. C. de Guimarães; Pirro G. Hysi; Michel Michaelides; Gavin Arno; Andrew R. Webster; Omar A. Mahroo
TAGS: abca4 gene, cohort studies, macular dystrophy, sex distribution
Invest. Ophthalmol. Vis. Sci.. 2024; 65(5):9. https://doi.org/10.1167/iovs.65.5.9

Clinical and Epidemiologic Research January 2024

Smoking, Corneal Biomechanics, and Glaucoma: Results From Two Large Population-Based Cohorts

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Kelsey V. Stuart; Kian M. Madjedi; Robert N. Luben; Mahantesh I. Biradar; Siegfried K. Wagner; Alasdair N. Warwick; Zihan Sun; Pirro G. Hysi; Mark J. Simcoe; Paul J. Foster; Anthony P. Khawaja; on behalf of the Modifiable Risk Factors for Glaucoma Collaboration and the UK Biobank Eye and Vision Consortium
TAGS: biomechanics, cohort studies, cornea, glaucoma, smoking, intraocular pressure
Invest. Ophthalmol. Vis. Sci.. 2024; 65(1):11. https://doi.org/10.1167/iovs.65.1.11

Includes: Supplemental Content

Retina June 2023

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

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Mark J. Simcoe; Gavin Arno; Pirro G. Hysi; Tony Ko; Michel Michaelides; Christopher J. Hammond; Praveen J. Patel; Omar A. Mahroo; Andrew R. Webster; for the UK Biobank Eye and Vision Consortium*
TAGS: abca4 gene, biobanks, genotype, mutation, retina, retinal diseases, alleles, cohort studies, visual acuity
Invest. Ophthalmol. Vis. Sci.. 2023; 64(7):31. https://doi.org/10.1167/iovs.64.7.31

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2023

CNIH4 variants are associated with pigment dispersion syndrome in humans and pigment abnormalities in zebrafish

Shi Song Rong; Anna Larson; John Simmons Borchert; Mark Simcoe; Nicole Weisschuh; Christopher J Hammond; Pirro G Hysi; Robert Ritch; Emmanuelle Souzeau; Jamie E Craig; Janey L Wiggs

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4358.

ARVO Annual Meeting Abstract June 2022

Performance of polygenic risk scores computed using sets of markers cosmopolitan for the prediction of glaucoma in ethnically diverse populations

Pirro G Hysi; Mark Simcoe; Anthony Khawaja; Christopher J Hammond

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1659 – A0154.

ARVO Annual Meeting Abstract June 2022

Exploring the p.Gly863Ala variant in ABCA4: the complex allele with p.Asn1868Ile is enriched in ABCA4-retinopathy patients compared to the general population

Mark Simcoe; Sandra Vermeirsch; Nikolas Pontikos; John Chiang; Christopher J Hammond; Pirro G Hysi; Michel Michaelides; Omar Abdul Rahman Mahroo; Andrew R Webster; Gavin Arno

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1590 – A0379.

ARVO Annual Meeting Abstract June 2022

Association between statin use and retinal layer thicknesses in the UK Biobank

Christopher J Hammond; Mark Simcoe; Zakariya Jarrar; Gavin Arno; Pirro G Hysi; Andrew R Webster; Omar Abdul Rahman Mahroo; Praveen Patel

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2544 – A0113.

ARVO Annual Meeting Abstract June 2022

ABCA4 -alleles bearing two rare cis-variants comprise a significant proportion of those found in affected patients.

Maria Pilar Martin Gutierrez; Sandra Vermeirsch; Nikolas Pontikos; Mark Simcoe; Michel Michaelides; Gavin Arno; Omar Abdul Rahman Mahroo; Andrew R Webster

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4295.

ARVO Annual Meeting Abstract June 2021

Genetic analyses identify the first two genetic loci associated with sporadic pigment dispersion syndrome and indicate myopia is a causal factor for disease onset

Mark James Simcoe; Baojian Fan; naushin waseem; Nicole Weisschuh; Omar Abdul Rahman Mahroo; Helene Choquet; Janey L Wiggs; David F Garway-Heath; Pirro G Hysi; Christopher J Hammond

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1591.

ARVO Annual Meeting Abstract June 2021

Exploration of associations between a prevalent Stargardt disease-associated variant in ABCA4 and retinal thickness in the general population

Pirro G Hysi; Mark James Simcoe; Gavin Arno; Tony Ko; Paveen J Patel; Omar Abdul Rahman Mahroo; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2202.

Genetics September 2020

The Role of Chromosome X in Intraocular Pressure Variation and Sex-Specific Effects

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Mark J. Simcoe; Anthony P. Khawaja; Omar A. Mahroo; Christopher J. Hammond; Pirro G. Hysi; for the UK Biobank Eye and Vision Consortium
TAGS: intraocular pressure, open-angle glaucoma, x chromosomes, single nucleotide polymorphism, biobanks, cohort studies
Invest. Ophthalmol. Vis. Sci.. 2020; 61(11):20. https://doi.org/10.1167/iovs.61.11.20

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

Iris reflectance measurements in >1000 healthy adult twins: exploration of heritability and associations with eye color

Andrea Kimberly Uy; Xiaofan Jiang; Alex Tanner; Mark Simcoe; Diana Kozareva; Katie Williams; Pirro G Hysi; Christopher Hammond; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1866.

ARVO Annual Meeting Abstract July 2019

Cascade Screening Study of African-Caribbean patients with glaucoma

Sam Myers; Mark James Simcoe; Diana Kozareva; Christopher J Hammond

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1995.

ARVO Annual Meeting Abstract July 2019

Integrative analysis of GWAS and eQTLs proposes new genetic associations and causal genes for Primary Open Angle Glaucoma

Ayellet Segre; Andrew Hamel; John Rouhana; Anthony P Khawaja; Mark James Simcoe; Christopher J Hammond; Pirro G Hysi; GTEx consortium; Janey L Wiggs

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4252.

ARVO Annual Meeting Abstract July 2019

Gene-drug interactions alter response to prostaglandin analogue treatment of high intraocular pressure and glaucoma

Pirro G Hysi; Mark James Simcoe; Anthony P Khawaja; Christopher J Hammond

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5223.

ARVO Annual Meeting Abstract July 2019

GWAS of corneal biomechanics identifies over 200 novel associated loci providing additional insight into the genetic aetiology of ocular disease

Mark James Simcoe; Anthony P Khawaja; Christopher J Hammond; Pirro G Hysi

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5227.

ARVO Annual Meeting Abstract July 2018

GWAS identifies 52 genomic regions associated with iris colour in a study conducted using almost 200,000 participants of European descent

Mark James Simcoe; Manfred Kayser; Tim Spector; Christopher J Hammond; Pirro G Hysi

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):781.

ARVO Annual Meeting Abstract July 2018

Genome-wide association study of intraocular pressure identifies 83 novel loci

Anthony P Khawaja; Jessica Cooke Bailey; Mark James Simcoe; Robert P Igo; Louis R. Pasquale; Paul J Foster; Janey L Wiggs; Christopher J Hammond; Pirro G Hysi

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1178.

ARVO Annual Meeting Abstract July 2018

Investigating the relationship between retinal nerve fibre layer thickness and intraocular pressure in an aging twin population

Claire Lixian Wong; Mark James Simcoe; Diana Kozareva; Christopher J Hammond

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2696.

ARVO Annual Meeting Abstract July 2018

Identifying discordant twins for glaucoma using self-report

Sam Myers; Mark James Simcoe; Jelle Vehof; Christopher J Hammond

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5154.

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Sex Distributions in Non- ABCA4 Autosomal Macular Dystrophies

Smoking, Corneal Biomechanics, and Glaucoma: Results From Two Large Population-Based Cohorts

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

CNIH4 variants are associated with pigment dispersion syndrome in humans and pigment abnormalities in zebrafish

Performance of polygenic risk scores computed using sets of markers cosmopolitan for the prediction of glaucoma in ethnically diverse populations

Exploring the p.Gly863Ala variant in ABCA4: the complex allele with p.Asn1868Ile is enriched in ABCA4-retinopathy patients compared to the general population

Association between statin use and retinal layer thicknesses in the UK Biobank

ABCA4 -alleles bearing two rare cis-variants comprise a significant proportion of those found in affected patients.

Genetic analyses identify the first two genetic loci associated with sporadic pigment dispersion syndrome and indicate myopia is a causal factor for disease onset

Exploration of associations between a prevalent Stargardt disease-associated variant in ABCA4 and retinal thickness in the general population

The Role of Chromosome X in Intraocular Pressure Variation and Sex-Specific Effects

Iris reflectance measurements in >1000 healthy adult twins: exploration of heritability and associations with eye color

Cascade Screening Study of African-Caribbean patients with glaucoma

Integrative analysis of GWAS and eQTLs proposes new genetic associations and causal genes for Primary Open Angle Glaucoma

Gene-drug interactions alter response to prostaglandin analogue treatment of high intraocular pressure and glaucoma

GWAS of corneal biomechanics identifies over 200 novel associated loci providing additional insight into the genetic aetiology of ocular disease

GWAS identifies 52 genomic regions associated with iris colour in a study conducted using almost 200,000 participants of European descent

Genome-wide association study of intraocular pressure identifies 83 novel loci

Investigating the relationship between retinal nerve fibre layer thickness and intraocular pressure in an aging twin population

Identifying discordant twins for glaucoma using self-report

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