Rebeca Álvarez

Néstor–Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by <i>BANF1</i> mutations

Rubén Cabanillas, Juan Cadiñanos, José A.F. Villameytide et al. · American Journal of Medical Genetics Part A · 2011 · 154 citations · Full text

Medicine, Pediatrics, Genodermatoses +8

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients

Rubén Cabanillas, Marta Diñeiro, Guadalupe Cifuentes et al. · BMC Medical Genomics · 2018 · 102 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Transcriptional expression of<i>cis</i>-acting and<i>trans</i>-acting splicing mutations cause autosomal dominant retinitis pigmentosa

María José Gamundi, Imma Hernán, Marta Muntanyola et al. · Human Mutation · 2008 · 39 citations

Life Sciences, Genetics, Molecular Genetics +14

Novel germline <i>CDKN2A</i> mutation associated with head and neck squamous cell carcinomas and melanomas

Rubén Cabanillas, Aurora Astudillo, Miguel Valle et al. · Head & Neck · 2011 · 22 citations

Life Sciences, Genetics, Oncology +17

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options

Marta Diñeiro, Raquel Capín, Guadalupe Cifuentes et al. · Acta Ophthalmologica · 2020 · 15 citations · Full text

Life Sciences, Genetics, Ophthalmology +17