Almudena Ávila‐Fernández

AÁ

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Publications

Citations

2.6K

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Active since

2007

Affiliations

Hospital Universitario Fundación Jiménez Díaz(Current)

Centre for Biomedical Network Research on Rare Diseases

Instituto de Salud Carlos III

Universidad Autónoma de Madrid

Radboud University Nijmegen

Almudena Ávila‐Fernández is an author at Hospital Universitario Fundación Jiménez Díaz specializing in medical genetics, genetics, and human genetics.

Publications per year

2007–2023

Publications

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

BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

Alejandro Estrada‐Cuzcano, Robert K. Koenekoop, Audrey Sénéćhal et al. · Archives of Ophthalmology · 2012 · 126 citations

Life Sciences, Genetics, Ophthalmology +12

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

Almudena Ávila‐Fernández, Diego Cantalapiedra, Elena Aller et al. · PubMed · 2010 · 105 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Mutation Screening of 299 Spanish Families with Retinal Dystrophies by Leber Congenital Amaurosis Genotyping Microarray

Elena Vallespín, Diego Cantalapiedra, Rosa Riveiro-Álvarez et al. · Investigative Ophthalmology & Visual Science · 2007 · 85 citations

Medicine, Genetics, Molecular Genetics +17

Mutations in IMPG1 Cause Vitelliform Macular Dystrophies

Gaël Manès, Isabelle Meunier, Almudena Ávila‐Fernández et al. · The American Journal of Human Genetics · 2013 · 81 citations · Full text

Medicine, Genetics, Ophthalmology +10

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