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List of works by Anneke den Hollander

A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa.

scientific article published on November 2015

A Novel Complotype Combination Associates with Age-Related Macular Degeneration and High Complement Activation Levels in vivo

scientific article published on 31 May 2016

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.

scientific article

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

scientific article

A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration

scientific article published on 29 September 2015

A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy

scientific article (publication date: 15 November 2014)

A homozygous frameshift mutation in LRAT causes retinitis punctata albescens

scientific article published on May 3, 2012

A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa

scientific article

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

scientific article published on 21 December 2015

A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype

scientific article

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

scientific journal article

Aberrant leukocyte telomere length in Birdshot Uveitis

scientific article

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

scientific article published on 16 August 2017

Analysis of Risk Alleles and Complement Activation Levels in Familial and Non-Familial Age-Related Macular Degeneration

scientific article

Analysis of rare variants in the C3 gene in patients with age-related macular degeneration

scientific article

Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration

scientific article

Association analysis of genetic and environmental risk factors in the cuticular drusen subtype of age-related macular degeneration ⬇️

scientific article published on August 18, 2012

Association of Hyperreflective Foci Present in Early Forms of Age-Related Macular Degeneration With Known Age-Related Macular Degeneration Risk Polymorphisms

scientific article published on August 2016

Association of Smoking and CFH and ARMS2 Risk Variants With Younger Age at Onset of Neovascular Age-Related Macular Degeneration.

scientific article published on May 2015

Association of a Haplotype in the NR3C2 Gene, Encoding the Mineralocorticoid Receptor, With Chronic Central Serous Chorioretinopathy

scientific article published on 23 March 2017

Association of a polymorphism in the BIRC6 gene with pseudoexfoliative glaucoma.

scientific article

Association of eNOS and HSP70 gene polymorphisms with glaucoma in Pakistani cohorts

scientific article

Association of known common genetic variants with primary open angle, primary angle closure, and pseudoexfoliation glaucoma in Pakistani cohorts

scientific article

Association of tumor necrosis factor alpha gene polymorphism G-308A with pseudoexfoliative glaucoma in the Pakistani population

scientific article

Basal laminar drusen caused by compound heterozygous variants in the CFH gene

scientific article published on February 2008

CRB1 mutation spectrum in inherited retinal dystrophies

scientific article

Central areolar choroidal dystrophy

scientific article published on 25 February 2009

Central areolar choroidal dystrophy (CACD) and age-related macular degeneration (AMD): differentiating characteristics in multimodal imaging

scientific article

Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.

scientific article

Characterization of XAGE‐1b, a short major transcript of cancer/testis‐associated gene XAGE‐1, induced in melanoma metastasis ⬇️

scientific article (publication date: 10 January 2002)

Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.

scientific article

Chronic central serous chorioretinopathy: long-term follow-up and vision-related quality of life

scientific article

Clinical and genetic characteristics of late-onset Stargardt's disease

scientific article

Clinical and genetic heterogeneity in multifocal vitelliform dystrophy

scientific article published in August 2007

Clinical characteristics of familial and sporadic age-related macular degeneration: differences and similarities.

scientific article published on 9 October 2014

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

scientific article

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

scientific article

Comparing half-dose photodynamic therapy with high-density subthreshold micropulse laser treatment in patients with chronic central serous chorioretinopathy (the PLACE trial): study protocol for a randomized controlled trial.

scientific article published on 21 September 2015

Complement factor D in age-related macular degeneration

scientific article published on 11 November 2011

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

scientific article published on 15 January 2010

Cumulative Effect of Risk Alleles in CFH, ARMS2, and VEGFA on the Response to Ranibizumab Treatment in Age-related Macular Degeneration ⬇️

scientific article published on July 26, 2012

Cuticular drusen: stars in the sky.

scientific article published on 09 September 2013

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

scientific article

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy

scientific article

Elevated Steroid Hormone Levels in Active Chronic Central Serous Chorioretinopathy

scientific article published on 01 August 2019

Environmental and genetic risk factors for retinal angiomatous proliferation

scientific article published on 22 May 2014

Evaluation of Serum Lipid Concentrations and Genetic Variants at High-Density Lipoprotein Metabolism Loci andTIMP3in Age-Related Macular Degeneration ⬇️

scientific article published on July 25, 2011

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

scientific article

Exome sequencing in families with chronic central serous chorioretinopathy

scientific article published on 06 February 2019

Exome sequencing in patients with chronic central serous chorioretinopathy

scientific article published on 29 April 2019

Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype

scientific article

FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complex

scientific article

GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration

scientific article

Genetic Variants and Systemic Complement Activation Levels Are Associated With Serum Lipoprotein Levels in Age-Related Macular Degeneration

scientific article published on 01 December 2015

Genetic and environmental risk factors for age-related macular degeneration in persons 90 years and older

scientific article published on 25 March 2014

Genetic and environmental risk factors for extramacular drusen

scientific article published on 04 October 2020

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

scientific article

Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies ⬇️

scientific article published on November 11, 2010

Genetic risk score has added value over initial clinical grading stage in predicting disease progression in age-related macular degeneration

scientific article published on 29 April 2019

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

scientific article published on 15 October 2018

Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions

scientific article (publication date: July 2007)

Genetic, behavioral, and sociodemographic risk factors for second eye progression in age-related macular degeneration

scientific article published on 24 August 2012

Genetics of Unilateral and Bilateral Age-Related Macular Degeneration Severity Stages

scientific article

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

scientific article published in February 2018

Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy

scientific article published on 12 December 2019

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

scientific article

Genomic approaches for the discovery of genes mutated in inherited retinal degeneration ⬇️

scientific article

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

scientific article published on 27 January 2018

Half-dose photodynamic therapy followed by diode micropulse laser therapy as treatment for chronic central serous chorioretinopathy: evaluation of a prospective treatment protocol

scientific article published on 15 December 2015

Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population

scientific article published on 06 April 2011

Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

scientific article

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations

scientific article

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

scientific article

Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome

scientific article published on 30 March 2016

Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma

scientific article

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa

scientific article

Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome ⬇️

scientific article published on July 18, 2012

Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma

scientific article published on 23 September 2014

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays

scientific article published in December 2007

Impact of the common genetic associations of age-related macular degeneration upon systemic complement component C3d levels

scientific article

Increased High-Density Lipoprotein Levels Associated with Age-Related Macular Degeneration

article published in 2019

Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration

scientific article published on 07 February 2020

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

scientific article published in July 2007

MPP5 recruits MPP4 to the CRB1 complex in photoreceptors

scientific article

Major predictive factors for progression of early to late age-related macular degeneration

scientific article published on 13 March 2020

Mediterranean Diet and Incidence of Advanced Age-Related Macular Degeneration

article by Bénédicte M.J. Merle et al published August 2018 in Ophthalmology

Metabolomics in serum of patients with non-advanced age-related macular degeneration reveals aberrations in the glutamine pathway.

scientific article

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

scientific article

Microfluidic organ-on-a-chip model of the outer blood-retinal barrier with clinically relevant read-outs for tissue permeability and vascular structure

scientific article published on 21 December 2020

Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa ⬇️

scientific article published on December 15, 2010

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.

scientific article

Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration

scientific article

Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa

scientific article published on 15 April 2010

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

scientific journal article

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

scientific article

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

scientific article

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

scientific article

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy

scientific article published on 13 September 2014

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy

scientific journal article

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

scientific article

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype

scientific article published in October 2010

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

scientific article published in July 2006

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa

scientific article published on 29 September 2013

Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus

scientific article

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

scientific journal article

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

article

Next Generation Genetic Testing for Retinitis Pigmentosa

Next-generation genetic testing for retinitis pigmentosa

scientific article

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).

scientific article published on 9 April 2015

Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.

scientific article

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

scientific article

Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa

scientific article

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population

scientific article published on 7 April 2010

Nutritional risk factors for age-related macular degeneration.

scientific article

Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290 ⬇️

scientific article published on February 10, 2012

Polymorphisms in matrix metalloproteinases MMP1 and MMP9 are associated with primary open-angle and angle closure glaucoma in a Pakistani population ⬇️

scientific article published on February 20, 2013

Rare and low-frequency coding variants alter human adult height

scientific article (publication date: February 2017)

Risk Alleles in CFH and ARMS2 Are Independently Associated with Systemic Complement Activation in Age-related Macular Degeneration

scientific article published on 30 November 2011

Role of Lysyl oxidase-like 1 gene polymorphisms in Pakistani patients with pseudoexfoliative glaucoma ⬇️

scientific article published on April 25, 2012

Role of the Complement System in Chronic Central Serous Chorioretinopathy: A Genome-Wide Association Study

scientific article published on 01 October 2018

Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations

scientific article

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

scientific article

The Effect of Genetic Variants Associated With Age-Related Macular Degeneration Varies With Age

scientific article published on 01 December 2020

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene

scientific article published on 16 April 2009

The spectrum of phenotypes caused by variants in the CFH gene.

scientific article

The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene

scientific article published on 26 January 2008

Variants in the ASB10 Gene Are Associated with Primary Open Angle Glaucoma

scientific article published on 29 December 2015

Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration

scientific article

Whole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes

article

XRCC1 and XPD DNA repair gene polymorphisms: a potential risk factor for glaucoma in the Pakistani population ⬇️

scientific article published on May 4, 2011

Zinc supplementation inhibits complement activation in age-related macular degeneration

scientific article

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