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Genetics August 2024

Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium

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Pam A. T. Heutinck; L. Ingeborgh van den Born; Maikel Vermeer; Adriana I. Iglesias Gonzales; Carel B. Hoyng; Jan Willem R. Pott; Hester Y. Kroes; Mary J. van Schooneveld; Camiel J. F. Boon; Maria M. van Genderen; Astrid S. Plomp; Yvonne de Jong-Hesse; Michelle B. van Egmond-Ebbeling; Lies H. Hoefsloot; Arthur A. Bergen; Caroline C. W. Klaver; Magda A. Meester-Smoor; Alberta A. H. J. Thiadens; Virginie J. M. Verhoeven
TAGS: child, cohort studies, dutch, genetics, hereditary retinal dystrophy, pediatrics, phenotype, genes
Invest. Ophthalmol. Vis. Sci.. 2024; 65(10):40. https://doi.org/10.1167/iovs.65.10.40

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2022

Post-GWAS screening of candidate genes for refractive error in mutant zebrafish.

Wim Quint; Kirke Tadema; Nina Kokke; Magda Meester; rob willemsen; Caroline C W Klaver; adriana iglesias

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1872 – A0001.

Articles March 2022

Zebrafish: An In Vivo Screening Model to Study Ocular Phenotypes

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Wim H. Quint; Kirke C. D. Tadema; Johan H. C. Crins; Nina C. C. J. Kokke; Magda A. Meester-Smoor; Rob Willemsen; Caroline C. W. Klaver; Adriana I. Iglesias
TAGS: eye, eye diseases, fibrillin-1, phenotype, screening, spectral domain-optical coherence tomography, zebrafish, intraocular pressure, refractive errors
Trans. Vis. Sci. Tech.. 2022; 11(3):17. https://doi.org/10.1167/tvst.11.3.17

Includes: Multimedia, Supplemental Content

Review March 2022

The Role of GJD2 (Cx36) in Refractive Error Development

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Emilie van der Sande; Annechien E. G. Haarman; Wim H. Quint; Kirke C. D. Tadema; Magda A. Meester-Smoor; Maarten Kamermans; Chris I. De Zeeuw; Caroline C. W. Klaver; Beerend H. J. Winkelman; Adriana I. Iglesias
TAGS: gap junction protein, myopia, refractive errors, retina, amacrine cells, eye, proteins, phosphorylation, mice, photoreceptors
Invest. Ophthalmol. Vis. Sci.. 2022; 63(3):5. https://doi.org/10.1167/iovs.63.3.5

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

Loss of Gap Junction Delta-2 ( GJD2 ) gene orthologs leads to refractive error in zebrafish

wim Quint; kirke tadema; erik de vrieze; rachel Lukowicz; sanne broekman; Beerend Winkelman; melanie hoevenaars; Martijn Gruiter; Erwin van Wijk; Frank Schaeffel; Magda Meester-Smoor; Adam Miller; rob willemsen; Caroline C. W. Klaver; Adriana Iglesias

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2878.

Genetics July 2019

Determining Possible Shared Genetic Architecture Between Myopia and Primary Open-Angle Glaucoma

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Adriana I. Iglesias; Jue Sheng Ong; Anthony P. Khawaja; Puya Gharahkhani; Milly S. Tedja; Virginie J. M. Verhoeven; Pieter W. M. Bonnemaijer; Roger C. W. Wolfs; Terri L. Young; Nomdo M. Jansonius; Jamie E. Craig; Dwight Stambolian; Cornelia M. van Duijn; Stuart MacGregor; Caroline C. W. Klaver; for the International Glaucoma Genetics Consortium (IGGC) and Consortium for Refractive Error and Myopia (CREAM)
TAGS: myopia, open-angle glaucoma, genetics
Invest. Ophthalmol. Vis. Sci.. 2019; 60(8):3142-3149. https://doi.org/10.1167/iovs.18-26231

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

Risk variances of refractive error and axial length explained by polygenic risk scores of spherical equivalents

Clair Enthoven; Adriana I Iglesias; Milly S. Tedja; Willem Tideman; Jan Roelof Polling; Virginie JM Verhoeven; Caroline C W Klaver

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):700.

ARVO Annual Meeting Abstract July 2018

Assessing the genetic overlap between myopia and primary open-angle glaucoma

Adriana I Iglesias; Jue Sheng Ong; Puya Gharahkhani; Dwight Stambolian; Caroline C W Klaver; Stuart MacGregor; Cornelia van Duijn

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1827.

ARVO Annual Meeting Abstract July 2018

Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations.

Pieter W.M. Bonnemaijer; Adriana I Iglesias; Anna Sanyiwa; Hassan G Hassan; Heiko Philippin; Colin Cook; Janey L Wiggs; Christopher J Hammond; Michael A Hauser; Hans G Lemij; Ruth Loos; Cornelia van Duijn; Alberta A H J Thiadens; Caroline C W Klaver

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5136.

ARVO Annual Meeting Abstract July 2018

Shared genetic effects between diabetes-related traits and glaucoma-related traits

Louis R. Pasquale; Vincent Laville; Hugo Aschard; Adriana I Iglesias; Jae H Kang; David Mackey; Veronique Vitart; Cornelia van Duijn; Jonathan L Haines; Janey L Wiggs

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5144.

Genetics October 2017

A Genome-Wide Scan for MicroRNA-Related Genetic Variants Associated With Primary Open-Angle Glaucoma

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Mohsen Ghanbari; Adriana I. Iglesias; Henriët Springelkamp; Cornelia M. van Duijn; M. Arfan Ikram; Abbas Dehghan; Stefan J. Erkeland; Caroline C. W. Klaver; Magda A. Meester-Smoor; for the International Glaucoma Genetics Consortium (IGGC)
TAGS: glaucoma, micrornas, open-angle glaucoma, genetics, endophenotypes
Invest. Ophthalmol. Vis. Sci.. 2017; 58(12):5368-5377. https://doi.org/10.1167/iovs.17-22410

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Newly identified genes for refractive error and risk of myopia

Virginie JM Verhoeven; Adriana I Iglesias; Milly S. Tedja; Elisabeth M. van Leeuwen; Pirro G Hysi; Robert Wojciechowski; Christopher J Hammond; Caroline Klaver

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):181.

ARVO Annual Meeting Abstract June 2017

Light processing and regulators are important mechanisms in refractive error

Milly S. Tedja; Robert Wojciechowski; Pirro G Hysi; Virginie JM Verhoeven; Adriana I Iglesias; Roxanna Haak; Peter J Van der Spek; Christopher J Hammond; Caroline Klaver

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1225.

ARVO Annual Meeting Abstract June 2017

Post-GWAS analysis approaches uncover dozens of novel genes associated with myopic refractive error

Stuart MacGregor; Milly S. Tedja; Robert Wojciechowski; Pirro G Hysi; Virginie JM Verhoeven; Christopher J Hammond; Adriana I Iglesias; David A Mackey; Cornelia van Duijn; Caroline Klaver

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1226.

ARVO Annual Meeting Abstract June 2017

Evaluation of the myocilin mutation Gln368Stop demonstrates reduced penetrance for glaucoma in European populations

Abhishek Nag; Adriana I Iglesias; Pieter W.M. Bonnemaijer; Cornelia van Duijn; Caroline Klaver; Pirro G Hysi; Christopher J Hammond

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1229.

ARVO Annual Meeting Abstract June 2017

Exome-wide analyses of glaucoma-related endophenotypes in 19,700 individuals

Adriana I Iglesias; Anthony P Khawaja; Pieter W.M. Bonnemaijer; Abhishek Nag; Pirro G Hysi; Christopher J Hammond; Najaf Amin; Caroline Klaver; Paul J Foster; Cornelia van Duijn

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2134.

ARVO Annual Meeting Abstract June 2017

Identification of microRNAs associated with glaucoma using GWAS data.

Magda A. Meester; Mohsen Ghanbari; Adriana I Iglesias; H Springelkamp; S.J Erkeland; A. Dehghan; Cornelia van Duijn; O Franco; Caroline Klaver

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):5584.

ARVO Annual Meeting Abstract September 2016

Analyses of low-frequency and rare variants associated with intraocular pressure

Adriana I Iglesias; Henriet Springelkamp; Sven J van der Lee; Najaf Amin; Wilfred van Ijcken; André G Uitterlinden; Pirro G Hysi; Christopher J Hammond; Terry Gaasterland; Caroline C W Klaver; Cornelia van Duijn

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

ARVO Annual Meeting Abstract June 2015

Gene by gene interaction analyses identifies evidence of epistasis and new candidate genes that influence intraocular pressure in the general population

Pirro G Hysi; Adriana I Iglesias; Stuart MacGregor; David A Mackey; Rene Hoehn; Ching-Yu Cheng; Tien Yin Wong; Janey L Wiggs; Christopher J Hammond; Cornelia M van Duijn; International Glaucoma Genetics Consortium

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):5817.

ARVO Annual Meeting Abstract June 2015

Identification of plasma metabolites associated with intraocular pressure in a Dutch family-based study

Adriana I Iglesias; Henriet Springelkamp; Sven van der Lee; Ayse Demirkan; Aswin Verhoeven; Gerd Schmitz; Ko Willems van Dijk; Thomas Hankemeier; Caroline C W Klaver; Cornelia M van Duijn

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3655.

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Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium

Post-GWAS screening of candidate genes for refractive error in mutant zebrafish.

Zebrafish: An In Vivo Screening Model to Study Ocular Phenotypes

The Role of GJD2 (Cx36) in Refractive Error Development

Loss of Gap Junction Delta-2 ( GJD2 ) gene orthologs leads to refractive error in zebrafish

Determining Possible Shared Genetic Architecture Between Myopia and Primary Open-Angle Glaucoma

Risk variances of refractive error and axial length explained by polygenic risk scores of spherical equivalents

Assessing the genetic overlap between myopia and primary open-angle glaucoma

Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations.

Shared genetic effects between diabetes-related traits and glaucoma-related traits

A Genome-Wide Scan for MicroRNA-Related Genetic Variants Associated With Primary Open-Angle Glaucoma

Newly identified genes for refractive error and risk of myopia

Light processing and regulators are important mechanisms in refractive error

Post-GWAS analysis approaches uncover dozens of novel genes associated with myopic refractive error

Evaluation of the myocilin mutation Gln368Stop demonstrates reduced penetrance for glaucoma in European populations

Exome-wide analyses of glaucoma-related endophenotypes in 19,700 individuals

Identification of microRNAs associated with glaucoma using GWAS data.

Analyses of low-frequency and rare variants associated with intraocular pressure

Gene by gene interaction analyses identifies evidence of epistasis and new candidate genes that influence intraocular pressure in the general population

Identification of plasma metabolites associated with intraocular pressure in a Dutch family-based study

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