Félix Prieto

Auditory neuropathy in patients carrying mutations in the otoferlin gene (<i>OTOF</i>)

Montserrat Rodríguez-Ballesteros, Francisco Castillo, Yolanda Martín et al. · Human Mutation · 2003 · 196 citations

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

S Bort, Eva Nelis, Vincent Timmerman et al. · Human Genetics · 1997 · 137 citations

Mutational Analysis, Mendelian Disorder, Genetic Disorder +7

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

Francesc Palau, Ann Löfgren, Peter De Jonghe et al. · Human Molecular Genetics · 1993 · 128 citations

Genetic Heterogeneity of Heart-Hand Syndromes

Craig T. Basson, Scott D. Solomon, Barbara Weissman et al. · Circulation · 1995 · 80 citations

Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma

Francisco Sánchez‐Sánchez, Carmen Ramírez‐Castillejo, Daniel Weekes et al. · Human Mutation · 2006 · 44 citations

Engineering, Low-penetrance Retinoblastoma, Genetics +18