Ascensión Gimenez-Pardo

An Update on the Genetics of Usher Syndrome

José M. Millán, Elena Aller, Teresa Jaijo et al. · Journal of Ophthalmology · 2010 · 222 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Irene Perea‐Romero, Gema Gordo, Ionut-Florin Iancu et al. · Scientific Reports · 2021 · 160 citations · Full text

Life Sciences, Genetics, Ophthalmology +16

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

Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.

Rosa Riveiro‐Alvarez, María José Trujillo‐Tiebas, Ascensión Gimenez-Pardo et al. · PubMed · 2005 · 41 citations

Life Sciences, Genetics, Molecular Genetics +16

Correlation of Genetic and Clinical Findings in Spanish Patients with X-linked Juvenile Retinoschisis

Rosa Riveiro-Álvarez, M J Trujillo-Tiebas, Ascensión Gimenez-Pardo et al. · Investigative Ophthalmology & Visual Science · 2009 · 39 citations · Full text

Medicine, Genetics, Ophthalmology +17