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 · 213 citations · Full text

Photoreceptor Cell, Molecular Neuroscience, Ophthalmology +6

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 · 192 citations · Full text

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 · 175 citations · Full text

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 · 136 citations

Clinical Course, Ophthalmology, Degenerative Disease +5

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 · 117 citations · Full text

Ocular Disease, Genetics, Genetic Epidemiology +16