Isabel Lorda

Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes

Ana Arteche‐López, Raquel Escutia Romero, Rosa Riveiro-Álvarez et al. · Scientific Reports · 2021 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

Rocío Sánchez-Alcudia, Maria García‐Hoyos, Miguel Ángel López-Martínez et al. · PLoS ONE · 2016 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

Iker Sánchez‐Navarro, Luciana R. J. Silva, Fiona Blanco‐Kelly et al. · Scientific Reports · 2018 · 34 citations · Full text

Medicine, Genetics, Medical Genetics +15

Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish families

Mar�a Jos� Trujillo, Mar�a Martinez-Gimeno, A. Crespo Gimnez et al. · Human Mutation · 2000 · 20 citations

Medicine, Genetics, Molecular Genetics +11

Three novel mutations (P215L, T289P, and 3811-2 A?G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families

Mar�a Martinez-Gimeno, Mar�a Jos� Trujillo, Isabel Lorda et al. · Human Mutation · 2000 · 15 citations

Medicine, Genetics, Molecular Genetics +14