Marta de Castro‐Miró

High-Resolution Homozygosity Mapping Is a Powerful Tool to Detect Novel Mutations Causative of Autosomal Recessive RP in the Dutch Population

Rob W.J. Collin, L. Ingeborgh van den Born, B. Jeroen Klevering et al. · Investigative Ophthalmology & Visual Science · 2011 · 79 citations

Life Sciences, Genetics, Molecular Genetics +13

A Novel Nonsense Mutation in<i>CEP290</i>Induces Exon Skipping and Leads to a Relatively Mild Retinal Phenotype

Karin W. Littink, Jan-Willem R. Pott, Rob W.J. Collin et al. · Investigative Ophthalmology & Visual Science · 2010 · 73 citations · Full text

Life Sciences, Genetics, Ophthalmology +16

Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing

Marta de Castro‐Miró, Raúl Tonda, Paula Escudero-Ferruz et al. · PLoS ONE · 2016 · 59 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Anna M. Siemiatkowska, Kentar Arimadyo, Luminita Moruz et al. · PubMed · 2011 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Combined Genetic and High-Throughput Strategies for Molecular Diagnosis of Inherited Retinal Dystrophies

Marta de Castro‐Miró, Esther Pomares, Laura Lorés‐Motta et al. · PLoS ONE · 2014 · 36 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17