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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 2024

Associations in genetic architecture of myopia and open-angle glaucoma

Wishal D Ramdas; Victor de Vries; Virginie Jm Verhoeven; Caroline C W Klaver

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4614.

ARVO Annual Meeting Abstract June 2023

Parafoveal cone loss in inherited retinal dystrophy patients using the rtx1 adaptive optics retinal camera

Pam Heutinck; Danilo Andrade de Jesus; Luisa Sánchez Brea; Kubra Liman; Daniel Luttikhuizen; Magda A. Meester; Marine Durand; Theo van Walsum; Caroline C W Klaver; Virginie JM Verhoeven; Alberta A H J Thiadens

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1063.

ARVO Annual Meeting Abstract June 2023

Diagnostic whole exome sequencing in presumably autosomal recessively inherited retinal dystrophies in an Iranian population

Virginie JM Verhoeven; Pam Heutinck; Marianne van Tienhoven; Sima Kheradmand Kia; Caroline C W Klaver; Dariush D Farhud; Magda A. Meester; Alberta A H J Thiadens; Lies H Hoefsloot

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4642.

Immunology and Microbiology May 2023

Altered Functionality of Lipoprotein(a) Impacts on Angiogenesis in Diabetic Retinopathy

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Mahnaz Shariatzadeh; Nicole M. A. Nagtzaam; Leonie van Vark-van der Zee; Conny van Holten-Neelen; Adrie J. M. Verhoeven; Jonas Dehairs; Johannes V. Swinnen; Frank Leijten; Josianne C. ten Berge; Jose P. Martinez Ciriano; King T. Wong; Monique Mulder; Pieter J. M. Leenen; Willem A. Dik
TAGS: angiogenesis, diabetes mellitus, type 2, diabetic retinopathy, lipoproteins, low-density lipoproteins
Invest. Ophthalmol. Vis. Sci.. 2023; 64(5):8. https://doi.org/10.1167/iovs.64.5.8

Includes: Supplemental Content

Special Issue May 2023

IMI—Management and Investigation of High Myopia in Infants and Young Children

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Ian Flitcroft; John Ainsworth; Audrey Chia; Susan Cotter; Elise Harb; Zi-Bing Jin; Caroline C. W. Klaver; Anthony T. Moore; Ken K. Nischal; Kyoko Ohno-Matsui; Evelyn A. Paysse; Michael X. Repka; Irina Y. Smirnova; Martin Snead; Virginie J. M. Verhoeven; Pavan K. Verkicharla
TAGS: child, myopia
Invest. Ophthalmol. Vis. Sci.. 2023; 64(6):3. https://doi.org/10.1167/iovs.64.6.3

ARVO Annual Meeting Abstract June 2022

Diagnosis and identification of the genetic defect in a large Dutch cohort of children with retinal dystrophy: the RD5000 consortium

Pam Heutinck; L. Ingeborgh van den Born; Magda Meester; Maikel Vermeer; Caroline C W Klaver; Alberta A H J Thiadens; Virginie JM Verhoeven

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):623 – A0338.

ARVO Annual Meeting Abstract June 2022

Scrutinizing pathogenicity of the USH2A c.2276G>T; p.(Cys759Phe) variant

Janine Reurink; Erik de Vrieze; Catherina H.Z. Li; Sanne Broekman; Theo Peters; Kornelia Neveling; Hanka Venselaar; Christian Gilissen; Janneke J.C. van Lith-Verhoeven; Lonneke Haer-Wigman; Carel C B Hoyng; Frans P Cremers; Hannie Kremer; Susanne Roosing; Erwin van Wyk

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):491 – A0068.

Genetics August 2021

Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development

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Annechien E. G. Haarman; Clair A. Enthoven; Milly S. Tedja; Jan R. Polling; J. Willem L. Tideman; Jan E. E. Keunen; Camiel J. F. Boon; Janine F. Felix; H. Raat; Annette J. M. Geerards; Gregorius P. M. Luyten; Gwyneth A. van Rijn; Virginie J. M. Verhoeven; Caroline C. W. Klaver
TAGS: adult, genes, genotype, myopia, phenotype, child, refractive errors, biometry
Invest. Ophthalmol. Vis. Sci.. 2021; 62(10):16. https://doi.org/10.1167/iovs.62.10.16

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

Variable threshold burden style rare-variant tests identify novel genes associated with refractive error in a large multi-ancestry cohort

Annechien E.G. Haarman; Anthony M. Musolf; Deyana D Lewis; Joan E Bailey-Wilson; Caroline C. W. Klaver; Virginie JM Verhoeven; Consortium for Refractive Error and Myopia CREAM

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1383.

ARVO Annual Meeting Abstract June 2021

Novel genes are associated with refractive error in Indo-Europeans and East Asians using rare variant aggregation tests

Anthony Musolf; Annechien E.G. Haarman; Deyana D Lewis; Virginie JM Verhoeven; Caroline C. W. Klaver; Joan E Bailey-Wilson

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2341.

ARVO Annual Meeting Abstract June 2021

Gender predisposition to myopia shifts to girls in the young generation.

Clair Enthoven; Annechien E.G. Haarman; Joanna Swierkowska; Willem Tideman; Jan Roelof Polling; Virginie JM Verhoeven; Caroline C. W. Klaver

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2331.

Special Issue April 2021

IMI 2021 Yearly Digest

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Monica Jong; Jost B. Jonas; James S. Wolffsohn; David A. Berntsen; Pauline Cho; Danielle Clarkson-Townsend; Daniel I. Flitcroft; Kate L. Gifford; Annechien E. G. Haarman; Machelle T. Pardue; Kathryn Richdale; Padmaja Sankaridurg; Milly S. Tedja; Christine F. Wildsoet; Joan E. Bailey-Wilson; Jeremy A. Guggenheim; Christopher J. Hammond; Jaakko Kaprio; Stuart MacGregor; David A. Mackey; Anthony M. Musolf; Caroline C. W. Klaver; Virginie J. M. Verhoeven; Veronique Vitart; Earl L. Smith, III
TAGS: myopia
Invest. Ophthalmol. Vis. Sci.. 2021; 62(5):7. https://doi.org/10.1167/iovs.62.5.7

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

Gene-based Rare Variant Tests Identify Multiple Genome-wide Significant Associations with Refractive Error in Europeans

Anthony Musolf; Annechien E. G. Haarman; Deyana Lewis; Virginie J.M. Verhoeven; Caroline Klaver; Joan E Bailey-Wilson

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):92.

ARVO Annual Meeting Abstract June 2020

Phenotypic consequences of GJD2, the first GWAS hit for common myopia

Annechien Haarman; Clair Enthoven; Jan Keunen; Camiel Boon; Annette Geerards; Gregorius P M Luyten; The Erasmus MC Myopia Research Group Rotterdam; Virginie J.M. Verhoeven; Caroline Klaver

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):850.

Review April 2020

The Complications of Myopia: A Review and Meta-Analysis

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Annechien E. G. Haarman; Clair A. Enthoven; J. Willem L. Tideman; Milly S. Tedja; Virginie J. M. Verhoeven; Caroline C. W. Klaver
TAGS: meta-analysis, myopia
Invest. Ophthalmol. Vis. Sci.. 2020; 61(4):49. https://doi.org/10.1167/iovs.61.4.49

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

Genetic risk scores of the largest multi-trait GWAS meta-analysis on refractive errors

Caroline C W Klaver; Milly S. Tedja; Xikun Han; Virginie JM Verhoeven; Nick Ericksson; Nick Furlotte; Najaf Amin; Cornelia van Duijn; Stuart MacGregor

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3143.

ARVO Annual Meeting Abstract July 2019

Grading of retinal complications in high myopia occurring in Europeans

Annechien Haarman; Milly S. Tedja; Corina Brussee; Gwyneth A van Rijn; Johannes R. Vingerling; Jan Keunen; Camiel Boon; Annette J.M. Geerards; Gregorius P.M. Luyten; Virginie JM Verhoeven; Caroline C W Klaver

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4349.

ARVO Annual Meeting Abstract July 2019

The impact of computers on myopia in 6 to 9 year old school children.

Clair Enthoven; Willem Tideman; Jan Roelof Polling; Virginie JM Verhoeven; Caroline C W Klaver

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5831.

ARVO Annual Meeting Abstract July 2019

Comparing the efficacy of bevacizumab to ranibizumab in patients with diabetic macular edema: the BRDME study

Maartje J.C. Vader; Ann-Sofie M.E. Schauwvlieghe; Frank D Verbraak; Greetje Dijkman; Johanna M.M. Hooymans; Leonie I. Los; Aeilko H. Zwinderman; Tunde Peto; Carel B. Hoyng; Redmer van Leeuwen; Johannes R. Vingerling; Annette C. Moll; Janneke J.C. van Lith-Verhoeven; Marcel G.W. Dijkgraaf; Reinier O. Schlingemann

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3648.

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

Associations in genetic architecture of myopia and open-angle glaucoma

Parafoveal cone loss in inherited retinal dystrophy patients using the rtx1 adaptive optics retinal camera

Diagnostic whole exome sequencing in presumably autosomal recessively inherited retinal dystrophies in an Iranian population

Altered Functionality of Lipoprotein(a) Impacts on Angiogenesis in Diabetic Retinopathy

IMI—Management and Investigation of High Myopia in Infants and Young Children

Diagnosis and identification of the genetic defect in a large Dutch cohort of children with retinal dystrophy: the RD5000 consortium

Scrutinizing pathogenicity of the USH2A c.2276G>T; p.(Cys759Phe) variant

Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development

Variable threshold burden style rare-variant tests identify novel genes associated with refractive error in a large multi-ancestry cohort

Novel genes are associated with refractive error in Indo-Europeans and East Asians using rare variant aggregation tests

Gender predisposition to myopia shifts to girls in the young generation.

IMI 2021 Yearly Digest

Gene-based Rare Variant Tests Identify Multiple Genome-wide Significant Associations with Refractive Error in Europeans

Phenotypic consequences of GJD2, the first GWAS hit for common myopia

The Complications of Myopia: A Review and Meta-Analysis

Genetic risk scores of the largest multi-trait GWAS meta-analysis on refractive errors

Grading of retinal complications in high myopia occurring in Europeans

The impact of computers on myopia in 6 to 9 year old school children.

Comparing the efficacy of bevacizumab to ranibizumab in patients with diabetic macular edema: the BRDME study

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