A. Thiadens

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KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2

E. Zrenner, D. Sharon, K. Tsunoda, 2021, American journal of ophthalmology.

Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.

C. Klaver, F. Cremers, C. Hoyng, 2010, Investigative ophthalmology & visual science.

Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

C. Klaver, F. Cremers, C. Hoyng, 2009, Ophthalmology.

Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.

C. Klaver, A. D. den Hollander, F. Cremers, 2010, Ophthalmology.

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

C. Klaver, F. Riemslag, A. D. den Hollander, 2013, Ophthalmology.

Multi-trait genome-wide association study identifies new loci associated with optic disc parameters

Jonathan H. Morgan, Adriana I. Iglesias, C. Sudlow, 2019, Communications Biology.

Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images

Charles A Reisman, Charles A. Reisman, E. Birney, 2020, medRxiv.

Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.

B. Wilhelm, E. Zrenner, T. Rosenberg, 2020, JAMA ophthalmology.

Genetic testing and clinical characterization of patients with cone-rod dystrophy.

C. Klaver, A. Thiadens, 2010, Investigative ophthalmology & visual science.

CRB1-associated retinal dystrophies: a prospective natural history study in anticipation of future clinical trials.

C. Klaver, N. Schalij-Delfos, J. Wijnholds, 2021, American journal of ophthalmology.

Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy.

C. Klaver, W. V. van Zelst-Stams, L. I. van den Born, 2019, Investigative ophthalmology & visual science.

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.

C. Klaver, N. Schalij-Delfos, G. Dagnelie, 2018, Investigative ophthalmology & visual science.

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

C. Klaver, N. Schalij-Delfos, G. Dagnelie, 2017, Ophthalmology.

Disease Onset and Visual Acuity in CRB 1-Associated Retinitis Pigmentosa

C. Klaver, N. Schalij-Delfos, G. Dagnelie, 2022 .

Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry

C. Klaver, F. Cremers, C. Hoyng, 2021, Acta ophthalmologica.

Heterozygous Deep‐Intronic Variants and Deletions in ABCA4 in Persons with Retinal Dystrophies and One Exonic ABCA4 Variant

B. J. Klevering, C. Klaver, A. D. den Hollander, 2015, Human mutation.

Uveitis causes according to immune status of patients

A. Rothova, V. Dalm, A. Thiadens, 2018, Acta ophthalmologica.

Endophthalmitis after strabismus surgery: incidence and outcome in relation to age, operated eye muscle, surgical technique, scleral perforation and immune state

H. Simonsz, Tina Rutar, S. Kraft, 2020, Acta ophthalmologica.

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia

T. Strom, A. D. den Hollander, F. Cremers, 2010, Molecular vision.

Re: Sundaram et al.: Retinal structure and function in achromatopsia: implications for gene therapy (Ophthalmology 2014;121:234-45).

C. Klaver, A. Thiadens, 2014, Ophthalmology.

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290.

C. Klaver, B. Lorenz, C. Hoyng, 2018, Investigative ophthalmology & visual science.

CYP3A4, CYP3A5 and MDR‐1 Variant Alleles in The Dutch Caucasian Population

R. Brosens, J. Lindemans, A. Thiadens, 2003 .

Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.

C. Klaver, C. Duijn, S. Nickels, 2019, Communications biology.

Whole exome sequencing of known eye genes reveals genetic causes for high myopia

C. Klaver, J. Polling, L. Hoefsloot, 2022, Human molecular genetics.

Coronary artery fstulas

E. Meijboom, A. Thiadens, S. Said, 2008 .

Are Patients at Risk for Recurrent Disease Activity After Switching From Remicade® to Remsima®? An Observational Study

T. Missotten, M. V. van Velthoven, V. Dalm, 2020, Frontiers in Medicine.

Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy

J. Sahel, C. Creuzot-Garcher, G. Mancini, 2021, Scientific Reports.

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

C. Klaver, H. Lemij, K. Taylor, 2018, Human Genetics.

A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.

F. Riemslag, A. D. den Hollander, F. Cremers, 2009, Investigative ophthalmology & visual science.

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

A. Hoischen, C. Rivolta, P. Farinelli, 2022, Frontiers in Cell and Developmental Biology.

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Adriana I. Iglesias, Michelle K. Lupton, A. Auton, 2021, Nature Communications.

Long-term follow-up of hydrogel intracorneal lenses in 2 aphakic eyes.

A. Thiadens, W. Beekhuis, G. van Rij, 2010, Journal of cataract and refractive surgery.

A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma and includes a genetic link with Alzheimer’s disease

Adriana I. Iglesias, A. Auton, E. Birney, 2020, bioRxiv.

Causes and consequences of inherited cone disorders

C. Klaver, F. Cremers, C. Hoyng, 2014, Progress in Retinal and Eye Research.

Genetic Etiology and Clinical Consequences of Cone Disorders

A. Thiadens, 2011 .

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

C. Klaver, T. Strom, S. Nabuurs, 2009, American journal of human genetics.

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

F. Grassmann, H. Stöhr, F. Cremers, 2019, Genetics in Medicine.

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.

C. Klaver, C. Rivolta, P. Farinelli, 2016, Human molecular genetics.

Differences in clinical presentation of primary open‐angle glaucoma between African and European populations

C. Klaver, H. Lemij, P. Bonnemaijer, 2021, Acta ophthalmologica.

Defining inclusion criteria and endpoints for clinical trials: a prospective cross‐sectional study in CRB1‐associated retinal dystrophies

N. Schalij-Delfos, J. Wijnholds, F. Cremers, 2021, Acta ophthalmologica.

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.

C. Klaver, F. Cremers, C. Hoyng, 2018, Investigative ophthalmology & visual science.

Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.

T. M. Phan, C. Klaver, A. D. den Hollander, 2012, Ophthalmology.

Long-term data on efficacy and safety of adalimumab in Behçet's disease.

T. Missotten, P. V. van Hagen, J. V. van Laar, 2023, Clinical immunology.

X-linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients.

P. Sieving, C. Hoyng, B. Lissenberg-Witte, 2021, Ophthalmology.

Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.

Michael G. Anderson, J. Haines, M. Pericak-Vance, 2019, JAMA.

CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study.

H. Putter, C. Klaver, N. Schalij-Delfos, 2019, Retina.

Clinical course of cone dystrophy caused by mutations in the RPGR gene

C. Klaver, F. Riemslag, A. D. den Hollander, 2011, Graefe's Archive for Clinical and Experimental Ophthalmology.

The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.

C. Klaver, C. Hoyng, B. Lissenberg-Witte, 2022, Ophthalmology. Retina.

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

Adriana I. Iglesias, C. Klaver, H. Lemij, 2018, Human Genetics.

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

L. Vissers, I. Fajardy, D. Sharon, 2023, HGG advances.

Genetic African Ancestry Is Associated With Central Corneal Thickness and Intraocular Pressure in Primary Open-Angle Glaucoma.

C. Klaver, H. Lemij, C. V. van Duijn, 2017, Investigative ophthalmology & visual science.

Glaucoma Genetic African Ancestry Is Associated With Central Corneal Thickness and Intraocular Pressure in Primary Open-Angle Glaucoma

Cornelia, C. Klaver, H. Lemij, 2017 .

Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene

C. Klaver, J. Polling, L. Hoefsloot, 2022, Human mutation.

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

F. Grassmann, H. Stöhr, F. Cremers, 2019, Genetics in Medicine.

Myopia control in Mendelian forms of myopia

C. Klaver, J. Polling, C. D. De Zeeuw, 2023, Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians.

KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 1

E. Zrenner, D. Sharon, K. Tsunoda, 2020, American journal of ophthalmology.

CAUSES AND CLINICAL MANIFESTATIONS OF MASQUERADE SYNDROMES IN INTRAOCULAR INFLAMMATORY DISEASES

J. Vingerling, A. Rothova, A. Thiadens, 2021, Retina.

CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study.

C. Klaver, N. Schalij-Delfos, G. Dagnelie, 2020, Retina.

Association of Risk Variants in the CFH Gene With Elevated Levels of Coagulation and Complement Factors in Idiopathic Multifocal Choroiditis

L. Kiemeney, A. D. den Hollander, S. Hiddingh, 2023, JAMA ophthalmology.

Cone-rod dystrophy can be a manifestation of Danon disease

C. Klaver, F. Riemslag, G. Visser, 2012, Graefe's Archive for Clinical and Experimental Ophthalmology.