Carmen Ayuso
Instituto de Salud Carlos III(ES)Centre for Biomedical Network Research on Rare Diseases(ES)Hospital Universitario Fundación Jiménez Díaz(ES)Universidad Autónoma de Madrid(ES)
Publications by Year
Research Areas
Retinal Development and Disorders, Retinal Diseases and Treatments, Ocular Disorders and Treatments, Genomics and Rare Diseases, RNA regulation and disease
Most-Cited Works
- → OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes(2007)513 cited
- → Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence(2009)434 cited
- → Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR(1998)414 cited
- → Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa(1998)392 cited
- → Diagnosis and staging of hepatocellular carcinoma (HCC): current guidelines(2018)390 cited
- → CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion(2012)386 cited