Alberta A. H. J. Thiadens

Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders

Alberta A. H. J. Thiadens, Anneke I. den Hollander, Susanne Roosing et al. · The American Journal of Human Genetics · 2009 · 215 citations · Full text

Medicine, Molecular Genetics, Neuroscience +13

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

Riccardo Sangermano, Alejandro Garanto, Mubeen Khan et al. · Genetics in Medicine · 2019 · 198 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Progressive Loss of Cones in Achromatopsia: An Imaging Study Using Spectral-Domain Optical Coherence Tomography

Alberta A. H. J. Thiadens, Ville Somervuo, L. Ingeborgh van den Born et al. · Investigative Ophthalmology & Visual Science · 2010 · 181 citations · Full text

Medicine, Ophthalmology, Vision Science +17

Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy

Alberta A. H. J. Thiadens, T. My Lan Phan, Renate C. Zekveld-Vroon et al. · Ophthalmology · 2012 · 137 citations

Medicine, Genetics, Ophthalmology +13

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

Hannah Currant, Pirro G. Hysi, Tomas Fitzgerald et al. · PLoS Genetics · 2021 · 125 citations · Full text

Medicine, Genetics, Ophthalmology +17