2017 - Member of Academia Europaea
Anneke I. den Hollander focuses on Genetics, Retinitis pigmentosa, Mutation, Retinal Dystrophies and Disease gene identification. Her Genetics study which covers Achromatopsia that intersects with Retinal Cone Photoreceptor Cells. Her Retinitis pigmentosa study integrates concerns from other disciplines, such as Genetic testing, Allele, Null allele and Genotype.
Her research investigates the connection with Mutation and areas like Candidate gene which intersect with concerns in Exome, Kinase activity and Exome sequencing. Her Gene research incorporates elements of Age related and Macular degeneration. The concepts of her CRB1 study are interwoven with issues in Retinal pigment epithelium, RPE65 and Transmembrane protein.
Anneke I. den Hollander mostly deals with Genetics, Macular degeneration, Retinitis pigmentosa, Ophthalmology and Internal medicine. Her study in Disease gene identification, Mutation, Missense mutation, Gene and Allele falls within the category of Genetics. Her Macular degeneration research is multidisciplinary, relying on both Single-nucleotide polymorphism, Disease, Pathology and Age related.
Her Retinitis pigmentosa research is multidisciplinary, incorporating perspectives in Nonsense mutation, Retinal pigment epithelium, Retinal degeneration and Mutation. The Visual acuity, Fundus, Electroretinography and Fluorescein angiography research she does as part of her general Ophthalmology study is frequently linked to other disciplines of science, such as In patient, therefore creating a link between diverse domains of science. Her study on Internal medicine also encompasses disciplines like
Her primary areas of investigation include Macular degeneration, Age related, Internal medicine, Disease and Genetics. She combines subjects such as Single-nucleotide polymorphism, Genome-wide association study, Bioinformatics and Pathology with her study of Macular degeneration. In her research on the topic of Pathology, Macular dystrophy is strongly related with Missense mutation.
Her Age related study combines topics in areas such as Lipoproteins metabolism, Ophthalmology, Metabolomics, Metabolite and Cholesterol. Her Internal medicine research incorporates themes from Endocrinology, Oncology and Genotype. In the field of Genetics, her study on Exome sequencing, Gene and Minor allele frequency overlaps with subjects such as Aminopeptidase and Antigen-presenting cell.
Her main research concerns Macular degeneration, Genome-wide association study, Disease, Gene and Drusen. Anneke I. den Hollander interconnects Clinical trial, Retinal, Complement system and Lipid metabolism, Cholesterol homeostasis in the investigation of issues within Macular degeneration. Her Genome-wide association study study is related to the wider topic of Genetics.
She conducts interdisciplinary study in the fields of Genetics and Glucose homeostasis through her works. Her Disease study combines topics from a wide range of disciplines, such as Treatment strategy, Age related, Lipoprotein and Bioinformatics. Her biological study spans a wide range of topics, including Molecular biology and In vitro.
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A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
Lars G. Fritsche;Wilmar Igl;Jessica N.Cooke Bailey;Felix Grassmann.
Nature Genetics (2016)
Leber congenital amaurosis: genes, proteins and disease mechanisms.
Anneke I. den Hollander;Ronald Roepman;Robert K. Koenekoop;Frans P.M. Cremers.
Progress in Retinal and Eye Research (2008)
Autosomal Recessive Retinitis Pigmentosa and Cone-rod Dystrophy Caused by Splice Site Mutations in the Stargardt's Disease Gene ABCR
F.P.M. Cremers;T.J.R. van de Pol;M.A. van Driel;A.I. den Hollander.
Human Molecular Genetics (1998)
Non-syndromic retinitis pigmentosa
Sanne K. Verbakel;Ramon A.C. van Huet;Camiel J.F. Boon;Anneke I. den Hollander.
Progress in Retinal and Eye Research (2018)
Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene
Anneke I. den Hollander;John R. Heckenlively;L. Ingeborgh van den Born;Yvette J.M. de Kok.
American Journal of Human Genetics (2001)
Prevalence of Age-Related Macular Degeneration in Europe: The Past and the Future
Johanna M. Colijn;Gabriëlle H.S. Buitendijk;Elena Prokofyeva;Dalila Alves.
Ophthalmology (2017)
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene
Camiel J.F. Boon;B. Jeroen Klevering;Bart P. Leroy;Carel B. Hoyng.
Progress in Retinal and Eye Research (2009)
Next-generation genetic testing for retinitis pigmentosa.
Kornelia Neveling;Rob W.J. Collin;Christian Gilissen;Ramon A.C. van Huet.
Human Mutation (2012)
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Hemant Khanna;Erica E Davis;Carlos A Murga-Zamalloa;Alejandro Estrada-Cuzcano.
Nature Genetics (2009)
Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies.
Anneke I. den Hollander;Aaron Black;Jean Bennett;Frans P.M. Cremers.
Journal of Clinical Investigation (2010)
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