Publications by authors named "Carel B Hoyng"

100Publications

Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.

Mol Ther Nucleic Acids 2020 Jun 12;21:412-427. Epub 2020 Jun 12.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.omtn.2020.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7352060PMC
June 2020

Long-term outcomes of vitrectomy for proliferative diabetic retinopathy.

Acta Ophthalmol 2020 Jul 9. Epub 2020 Jul 9.

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1111/aos.14482DOI Listing
July 2020

Effect of rare coding variants in the CFI gene on Factor I expression levels.

Hum Mol Genet 2020 Aug;29(14):2313-2324

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddaa114DOI Listing
August 2020

Comparing the Efficacy of Bevacizumab and Ranibizumab in Patients with Diabetic Macular Edema (BRDME): The BRDME Study, a Randomized Trial.

Ophthalmol Retina 2020 Aug 27;4(8):777-788. Epub 2020 Feb 27.

Department of Ophthalmology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Ophthalmology, University of Lausanne, Jules-Gonin Eye Hospital, Lausanne, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.oret.2020.02.008DOI Listing
August 2020

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.

Genet Med 2020 Jul 20;22(7):1235-1246. Epub 2020 Apr 20.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41436-020-0787-4DOI Listing
July 2020

A Deep Learning Model for Segmentation of Geographic Atrophy to Study Its Long-Term Natural History.

Ophthalmology 2020 Aug 15;127(8):1086-1096. Epub 2020 Feb 15.

Diagnostic Image Analysis Group, Department of Radiology, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ophtha.2020.02.009DOI Listing
August 2020

Comparing the Efficacy of Bevacizumab and Ranibizumab in Patients with Retinal Vein Occlusion: The Bevacizumab to Ranibizumab in Retinal Vein Occlusions (BRVO) study, a Randomized Trial.

Ophthalmol Retina 2020 06 7;4(6):576-587. Epub 2020 Jan 7.

Department of Ophthalmology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands; Department of Ophthalmology, University of Lausanne, Jules-Gonin Eye Hospital, Lausanne, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.oret.2019.12.019DOI Listing
June 2020

Risk factors for progression of age-related macular degeneration.

Ophthalmic Physiol Opt 2020 Mar 25;40(2):140-170. Epub 2020 Feb 25.

Departments of, Department of, Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1111/opo.12675DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7155063PMC
March 2020

Reply to Comment on: Focal and Diffuse Chronic Central Serous Chorioretinopathy Treated With Half-Dose Photodynamic Therapy or Subthreshold Micropulse Laser: PLACE Trial Report No. 3.

Am J Ophthalmol 2020 04 29;212:187-188. Epub 2020 Jan 29.

Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands; Department of Ophthalmology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.1016/j.ajo.2019.11.022DOI Listing
April 2020

CLINICAL CHARACTERISTICS AND OUTCOME OF POSTERIOR CYSTOID MACULAR DEGENERATION IN CHRONIC CENTRAL SEROUS CHORIORETINOPATHY.

Retina 2019 Dec 5. Epub 2019 Dec 5.

Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands.

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http://dx.doi.org/10.1097/IAE.0000000000002683DOI Listing
December 2019

GENETIC RISK FACTORS IN SEVERE, NONSEVERE AND ACUTE PHENOTYPES OF CENTRAL SEROUS CHORIORETINOPATHY.

Retina 2019 Dec 5. Epub 2019 Dec 5.

Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands.

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http://dx.doi.org/10.1097/IAE.0000000000002682DOI Listing
December 2019

Highly Variable Disease Courses in Siblings with Stargardt Disease.

Ophthalmology 2019 12 16;126(12):1712-1721. Epub 2019 Jul 16.

Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2019.07.010DOI Listing
December 2019

Foveal Sparing in Central Retinal Dystrophies.

Invest Ophthalmol Vis Sci 2019 08;60(10):3456-3467

Department of Ophthalmology, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1167/iovs.18-26533DOI Listing
August 2019

Elevated Steroid Hormone Levels in Active Chronic Central Serous Chorioretinopathy.

Invest Ophthalmol Vis Sci 2019 08;60(10):3407-3413

Department of Ophthalmology, Donders Institute of Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.19-26781DOI Listing
August 2019

RETINAL HYPERREFLECTIVE FOCI IN TYPE 1 DIABETES MELLITUS.

Retina 2020 Aug;40(8):1565-1573

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1097/IAE.0000000000002626DOI Listing
August 2020

Central serous chorioretinopathy: Towards an evidence-based treatment guideline.

Prog Retin Eye Res 2019 11 15;73:100770. Epub 2019 Jul 15.

Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands; Department of Ophthalmology, Amsterdam University Medical Center, University of Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.preteyeres.2019.07.003DOI Listing
November 2019

Patient characteristics of untreated chronic central serous chorioretinopathy patients with focal versus diffuse leakage.

Graefes Arch Clin Exp Ophthalmol 2019 Jul 23;257(7):1419-1425. Epub 2019 May 23.

Department of Ophthalmology, Leiden University Medical Center, P.O. Box 9600, 2300 RC, Leiden, The Netherlands.

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http://dx.doi.org/10.1007/s00417-019-04333-yDOI Listing
July 2019

Exome sequencing in patients with chronic central serous chorioretinopathy.

Sci Rep 2019 04 29;9(1):6598. Epub 2019 Apr 29.

Department of Ophthalmology, Donders Institute of Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41598-019-43152-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6488596PMC
April 2019

Focal and Diffuse Chronic Central Serous Chorioretinopathy Treated With Half-Dose Photodynamic Therapy or Subthreshold Micropulse Laser: PLACE Trial Report No. 3.

Am J Ophthalmol 2019 09 3;205:1-10. Epub 2019 Apr 3.

Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands; Department of Ophthalmology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2019.03.025DOI Listing
September 2019

The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy.

Mol Genet Genomic Med 2019 06 4;7(6):e660. Epub 2019 Apr 4.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.660
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http://dx.doi.org/10.1002/mgg3.660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565574PMC
June 2019

Reply.

Ophthalmology 2019 04;126(4):e30-e31

Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands; Department of Ophthalmology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2018.11.005DOI Listing
April 2019

The absence of fundus abnormalities in Stargardt disease.

Graefes Arch Clin Exp Ophthalmol 2019 Jun 22;257(6):1147-1157. Epub 2019 Mar 22.

Department of Ophthalmology (400), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://link.springer.com/10.1007/s00417-019-04280-8
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http://dx.doi.org/10.1007/s00417-019-04280-8DOI Listing
June 2019

Validation of a model for the prediction of retinopathy in persons with type 1 diabetes.

Br J Ophthalmol 2019 Mar 1. Epub 2019 Mar 1.

Department of General Practice and Elderly Care Medicine, Amsterdam Public Health Research Institute, VU Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1136/bjophthalmol-2018-313539DOI Listing
March 2019

Exome sequencing in families with chronic central serous chorioretinopathy.

Mol Genet Genomic Med 2019 04 6;7(4):e00576. Epub 2019 Feb 6.

Department of Ophthalmology, Donders Institute of Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.576
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http://dx.doi.org/10.1002/mgg3.576DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465660PMC
April 2019

Reply.

Ophthalmology 2019 01 22;126(1):e11. Epub 2018 Nov 22.

Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands; Department of Ophthalmology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2018.06.038DOI Listing
January 2019

Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.

Clin Genet 2018 12 15;94(6):569-574. Epub 2018 Oct 15.

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1111/cge.13447DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282796PMC
December 2018

Risk factors for development and progression of diabetic retinopathy in Dutch patients with type 1 diabetes mellitus.

Acta Ophthalmol 2018 Aug;96(5):459-464

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1111/aos.13815DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174939PMC
August 2018

Homozygous variants in , encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.

J Med Genet 2018 10 17;55(10):705-712. Epub 2018 Aug 17.

Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2018-105364DOI Listing
October 2018

ADALIMUMAB THERAPY FOR REFRACTORY BIRDSHOT CHORIORETINOPATHY.

Retina 2019 Nov;39(11):2189-2197

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center Nijmegen, the Netherlands.

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http://dx.doi.org/10.1097/IAE.0000000000002281DOI Listing
November 2019

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.

Am J Hum Genet 2018 07 28;103(1):74-88. Epub 2018 Jun 28.

Hearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6037131PMC
July 2018

Morphological and topographical appearance of microaneurysms on optical coherence tomography angiography.

Br J Ophthalmol 2018 Jun 20. Epub 2018 Jun 20.

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands

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http://dx.doi.org/10.1136/bjophthalmol-2018-312258DOI Listing
June 2018

Half-Dose Photodynamic Therapy versus High-Density Subthreshold Micropulse Laser Treatment in Patients with Chronic Central Serous Chorioretinopathy: The PLACE Trial.

Ophthalmology 2018 10 14;125(10):1547-1555. Epub 2018 Jun 14.

Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands; Department of Ophthalmology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2018.04.021DOI Listing
October 2018

Functional analyses of rare genetic variants in complement component C9 identified in patients with age-related macular degeneration.

Hum Mol Genet 2018 08;27(15):2678-2688

Division of Medical Protein Chemistry, Department of Translational Medicine, Lund University, Malmö Sweden.

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http://dx.doi.org/10.1093/hmg/ddy178DOI Listing
August 2018

Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's Membrane.

Ophthalmology 2018 09 26;125(9):1433-1443. Epub 2018 Apr 26.

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2018.03.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6104593PMC
September 2018

Non-syndromic retinitis pigmentosa.

Prog Retin Eye Res 2018 09 27;66:157-186. Epub 2018 Mar 27.

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.preteyeres.2018.03.005DOI Listing
September 2018

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.

Am J Hum Genet 2018 04 8;102(4):517-527. Epub 2018 Mar 8.

Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 EN Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985352PMC
April 2018

Geographic distribution of rare variants associated with age-related macular degeneration.

Mol Vis 2018 27;24:75-82. Epub 2018 Jan 27.

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5788811PMC
November 2018

Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration.

Ophthalmology 2018 07 2;125(7):1064-1074. Epub 2018 Feb 2.

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2017.12.023DOI Listing
July 2018

FAMILIAL CENTRAL SEROUS CHORIORETINOPATHY.

Retina 2019 Feb;39(2):398-407

Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands.

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http://dx.doi.org/10.1097/IAE.0000000000001966DOI Listing
February 2019

Spectrum of retinal abnormalities in renal transplant patients using chronic low-dose steroids.

Graefes Arch Clin Exp Ophthalmol 2017 Dec 23;255(12):2443-2449. Epub 2017 Oct 23.

Department of Ophthalmology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, the Netherlands.

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http://dx.doi.org/10.1007/s00417-017-3823-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5696484PMC
December 2017

Alteration of retinal layers in healthy subjects over 60 years of age until nonagenarians.

Clin Ophthalmol 2017 16;11:1499-1503. Epub 2017 Aug 16.

Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany.

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http://dx.doi.org/10.2147/OPTH.S137223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5566895PMC
August 2017

Phenotype Characteristics of Patients With Age-Related Macular Degeneration Carrying a Rare Variant in the Complement Factor H Gene.

JAMA Ophthalmol 2017 10;135(10):1037-1044

Department of Ophthalmology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1001/jamaophthalmol.2017.3195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710490PMC
October 2017

Variants in the PRPF8 Gene are Associated with Glaucoma.

Mol Neurobiol 2018 May 13;55(5):4504-4510. Epub 2017 Jul 13.

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s12035-017-0673-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5884903PMC
May 2018

Physical Activity and Age-related Macular Degeneration: A Systematic Literature Review and Meta-analysis.

Am J Ophthalmol 2017 Aug 24;180:29-38. Epub 2017 May 24.

Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital & Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, Australia; Department of Ophthalmology, University of Bonn, Bonn, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029394173021
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http://dx.doi.org/10.1016/j.ajo.2017.05.016DOI Listing
August 2017

Systemic and ocular fluid compounds as potential biomarkers in age-related macular degeneration.

Surv Ophthalmol 2018 Jan - Feb;63(1):9-39. Epub 2017 May 15.

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.survophthal.2017.05.003DOI Listing
December 2017

Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved Retinal Pigment Epithelium Area in Eyes With Choroideremia.

Am J Ophthalmol 2017 Jul 10;179:110-117. Epub 2017 May 10.

Doheny Image Reading Center, Doheny Eye Institute, Los Angeles, California; Department of Ophthalmology, David Geffen School of Medicine of the University of California-Los Angeles, Los Angeles, California. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2017.05.002DOI Listing
July 2017

Aberrant leukocyte telomere length in Birdshot Uveitis.

PLoS One 2017 1;12(5):e0176175. Epub 2017 May 1.

Laboratory of Translational Immunology, department of Immunology, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0176175PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411068PMC
September 2017

Automated Staging of Age-Related Macular Degeneration Using Optical Coherence Tomography.

Invest Ophthalmol Vis Sci 2017 04;58(4):2318-2328

Diagnostic Image Analysis Group, Radboud University Medical Center, Nijmegen, The Netherlands 2Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.16-20541DOI Listing
April 2017

Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.

Ophthalmology 2017 06 21;124(6):884-895. Epub 2017 Mar 21.

Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands; Department of Ophthalmology, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2017.01.047DOI Listing
June 2017

Identification of TP53BP2 as a Novel Candidate Gene for Primary Open Angle Glaucoma by Whole Exome Sequencing in a Large Multiplex Family.

Mol Neurobiol 2018 02 1;55(2):1387-1395. Epub 2017 Feb 1.

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://link.springer.com/10.1007/s12035-017-0403-z
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http://dx.doi.org/10.1007/s12035-017-0403-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820370PMC
February 2018

Rare and low-frequency coding variants alter human adult height.

Authors:
Eirini Marouli Mariaelisa Graff Carolina Medina-Gomez Ken Sin Lo Andrew R Wood Troels R Kjaer Rebecca S Fine Yingchang Lu Claudia Schurmann Heather M Highland Sina Rüeger Gudmar Thorleifsson Anne E Justice David Lamparter Kathleen E Stirrups Valérie Turcot Kristin L Young Thomas W Winkler Tõnu Esko Tugce Karaderi Adam E Locke Nicholas G D Masca Maggie C Y Ng Poorva Mudgal Manuel A Rivas Sailaja Vedantam Anubha Mahajan Xiuqing Guo Goncalo Abecasis Katja K Aben Linda S Adair Dewan S Alam Eva Albrecht Kristine H Allin Matthew Allison Philippe Amouyel Emil V Appel Dominique Arveiler Folkert W Asselbergs Paul L Auer Beverley Balkau Bernhard Banas Lia E Bang Marianne Benn Sven Bergmann Lawrence F Bielak Matthias Blüher Heiner Boeing Eric Boerwinkle Carsten A Böger Lori L Bonnycastle Jette Bork-Jensen Michiel L Bots Erwin P Bottinger Donald W Bowden Ivan Brandslund Gerome Breen Murray H Brilliant Linda Broer Amber A Burt Adam S Butterworth David J Carey Mark J Caulfield John C Chambers Daniel I Chasman Yii-Der Ida Chen Rajiv Chowdhury Cramer Christensen Audrey Y Chu Massimiliano Cocca Francis S Collins James P Cook Janie Corley Jordi Corominas Galbany Amanda J Cox Gabriel Cuellar-Partida John Danesh Gail Davies Paul I W de Bakker Gert J de Borst Simon de Denus Mark C H de Groot Renée de Mutsert Ian J Deary George Dedoussis Ellen W Demerath Anneke I den Hollander Joe G Dennis Emanuele Di Angelantonio Fotios Drenos Mengmeng Du Alison M Dunning Douglas F Easton Tapani Ebeling Todd L Edwards Patrick T Ellinor Paul Elliott Evangelos Evangelou Aliki-Eleni Farmaki Jessica D Faul Mary F Feitosa Shuang Feng Ele Ferrannini Marco M Ferrario Jean Ferrieres Jose C Florez Ian Ford Myriam Fornage Paul W Franks Ruth Frikke-Schmidt Tessel E Galesloot Wei Gan Ilaria Gandin Paolo Gasparini Vilmantas Giedraitis Ayush Giri Giorgia Girotto Scott D Gordon Penny Gordon-Larsen Mathias Gorski Niels Grarup Megan L Grove Vilmundur Gudnason Stefan Gustafsson Torben Hansen Kathleen Mullan Harris Tamara B Harris Andrew T Hattersley Caroline Hayward Liang He Iris M Heid Kauko Heikkilä Øyvind Helgeland Jussi Hernesniemi Alex W Hewitt Lynne J Hocking Mette Hollensted Oddgeir L Holmen G Kees Hovingh Joanna M M Howson Carel B Hoyng Paul L Huang Kristian Hveem M Arfan Ikram Erik Ingelsson Anne U Jackson Jan-Håkan Jansson Gail P Jarvik Gorm B Jensen Min A Jhun Yucheng Jia Xuejuan Jiang Stefan Johansson Marit E Jørgensen Torben Jørgensen Pekka Jousilahti J Wouter Jukema Bratati Kahali René S Kahn Mika Kähönen Pia R Kamstrup Stavroula Kanoni Jaakko Kaprio Maria Karaleftheri Sharon L R Kardia Fredrik Karpe Frank Kee Renske Keeman Lambertus A Kiemeney Hidetoshi Kitajima Kirsten B Kluivers Thomas Kocher Pirjo Komulainen Jukka Kontto Jaspal S Kooner Charles Kooperberg Peter Kovacs Jennifer Kriebel Helena Kuivaniemi Sébastien Küry Johanna Kuusisto Martina La Bianca Markku Laakso Timo A Lakka Ethan M Lange Leslie A Lange Carl D Langefeld Claudia Langenberg Eric B Larson I-Te Lee Terho Lehtimäki Cora E Lewis Huaixing Li Jin Li Ruifang Li-Gao Honghuang Lin Li-An Lin Xu Lin Lars Lind Jaana Lindström Allan Linneberg Yeheng Liu Yongmei Liu Artitaya Lophatananon Jian'an Luan Steven A Lubitz Leo-Pekka Lyytikäinen David A Mackey Pamela A F Madden Alisa K Manning Satu Männistö Gaëlle Marenne Jonathan Marten Nicholas G Martin Angela L Mazul Karina Meidtner Andres Metspalu Paul Mitchell Karen L Mohlke Dennis O Mook-Kanamori Anna Morgan Andrew D Morris Andrew P Morris Martina Müller-Nurasyid Patricia B Munroe Mike A Nalls Matthias Nauck Christopher P Nelson Matt Neville Sune F Nielsen Kjell Nikus Pål R Njølstad Børge G Nordestgaard Ioanna Ntalla Jeffrey R O'Connel Heikki Oksa Loes M Olde Loohuis Roel A Ophoff Katharine R Owen Chris J Packard Sandosh Padmanabhan Colin N A Palmer Gerard Pasterkamp Aniruddh P Patel Alison Pattie Oluf Pedersen Peggy L Peissig Gina M Peloso Craig E Pennell Markus Perola James A Perry John R B Perry Thomas N Person Ailith Pirie Ozren Polasek Danielle Posthuma Olli T Raitakari Asif Rasheed Rainer Rauramaa Dermot F Reilly Alex P Reiner Frida Renström Paul M Ridker John D Rioux Neil Robertson Antonietta Robino Olov Rolandsson Igor Rudan Katherine S Ruth Danish Saleheen Veikko Salomaa Nilesh J Samani Kevin Sandow Yadav Sapkota Naveed Sattar Marjanka K Schmidt Pamela J Schreiner Matthias B Schulze Robert A Scott Marcelo P Segura-Lepe Svati Shah Xueling Sim Suthesh Sivapalaratnam Kerrin S Small Albert Vernon Smith Jennifer A Smith Lorraine Southam Timothy D Spector Elizabeth K Speliotes John M Starr Valgerdur Steinthorsdottir Heather M Stringham Michael Stumvoll Praveen Surendran Leen M 't Hart Katherine E Tansey Jean-Claude Tardif Kent D Taylor Alexander Teumer Deborah J Thompson Unnur Thorsteinsdottir Betina H Thuesen Anke Tönjes Gerard Tromp Stella Trompet Emmanouil Tsafantakis Jaakko Tuomilehto Anne Tybjaerg-Hansen Jonathan P Tyrer Rudolf Uher André G Uitterlinden Sheila Ulivi Sander W van der Laan Andries R Van Der Leij Cornelia M van Duijn Natasja M van Schoor Jessica van Setten Anette Varbo Tibor V Varga Rohit Varma Digna R Velez Edwards Sita H Vermeulen Henrik Vestergaard Veronique Vitart Thomas F Vogt Diego Vozzi Mark Walker Feijie Wang Carol A Wang Shuai Wang Yiqin Wang Nicholas J Wareham Helen R Warren Jennifer Wessel Sara M Willems James G Wilson Daniel R Witte Michael O Woods Ying Wu Hanieh Yaghootkar Jie Yao Pang Yao Laura M Yerges-Armstrong Robin Young Eleftheria Zeggini Xiaowei Zhan Weihua Zhang Jing Hua Zhao Wei Zhao Wei Zhao He Zheng Wei Zhou Jerome I Rotter Michael Boehnke Sekar Kathiresan Mark I McCarthy Cristen J Willer Kari Stefansson Ingrid B Borecki Dajiang J Liu Kari E North Nancy L Heard-Costa Tune H Pers Cecilia M Lindgren Claus Oxvig Zoltán Kutalik Fernando Rivadeneira Ruth J F Loos Timothy M Frayling Joel N Hirschhorn Panos Deloukas Guillaume Lettre

Nature 2017 02 1;542(7640):186-190. Epub 2017 Feb 1.

Montreal Heart Institute, Montreal, Quebec H1T 1C8, Canada.

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http://dx.doi.org/10.1038/nature21039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5302847PMC
February 2017

In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases.

Hum Mutat 2017 04 3;38(4):400-408. Epub 2017 Feb 3.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/humu.23165DOI Listing
April 2017

Asymmetric Inter-Eye Progression in Stargardt Disease.

Invest Ophthalmol Vis Sci 2016 12;57(15):6824-6830

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.16-20963DOI Listing
December 2016

SHORT-TERM FINDINGS ON OPTICAL COHERENCE TOMOGRAPHY AND MICROPERIMETRY IN CHRONIC CENTRAL SEROUS CHORIORETINOPATHY PATIENTS TREATED WITH HALF-DOSE PHOTODYNAMIC THERAPY.

Retin Cases Brief Rep 2018 Fall;12(4):266-271

Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands.

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http://dx.doi.org/10.1097/ICB.0000000000000498DOI Listing
September 2018

The Functional Effect of Rare Variants in Complement Genes on C3b Degradation in Patients With Age-Related Macular Degeneration.

JAMA Ophthalmol 2017 Jan;135(1):39-46

Department of Ophthalmology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands4Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1001/jamaophthalmol.2016.4604DOI Listing
January 2017

Corrigendum to "Nutritional Risk Factors for Age-Related Macular Degeneration".

Biomed Res Int 2016;2016:7589328. Epub 2016 Nov 3.

Department of Ophthalmology, University Hospital of Cologne, Kerpener Straße 62, 50924 Cologne, Germany.

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http://dx.doi.org/10.1155/2016/7589328DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5112324PMC
November 2016