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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

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.

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.

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

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 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

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 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

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.

ARVO Annual Meeting Abstract June 2015

Analyses of whole genome sequencing and imputed datasets identify a rare variant associated with intraocular pressure within the TMCO1 gene

Abhishek Nag; Henriet Springelkamp; Adriana I Iglesias; Wishal Ramdas; Najaf Amin; Caroline C W Klaver; Cornelia M van Duijn; Christopher J Hammond; Pirro G Hysi

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):4379.

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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

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

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

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

Identification of microRNAs associated with glaucoma using GWAS data.

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

Newly identified genes for refractive error and risk of myopia

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

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

Analyses of whole genome sequencing and imputed datasets identify a rare variant associated with intraocular pressure within the TMCO1 gene

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