Ana Arteche‐López

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

Genomic Landscape of Sporadic Retinitis Pigmentosa

Inmaculada Martín-Mérida, Almudena Ávila‐Fernández, Marta Del Pozo‐Valero et al. · Ophthalmology · 2019 · 67 citations

Medicine, Genetics, Molecular Genetics +13

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families

Inmaculada Martín-Mérida, Domingo Aguilera‐Garcia, Patrícia José et al. · Investigative Ophthalmology & Visual Science · 2018 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders

Francisco Martínez‐Granero, Fiona Blanco‐Kelly, C. Sánchez-Jimeno et al. · npj Genomic Medicine · 2021 · 58 citations · Full text

Medicine, Molecular Genetics, Pediatrics +17