Joaquín Fernández‐Toral

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

Clea Bárcena, Vı́ctor Quesada, Annachiara De Sandre‐Giovannoli et al. · BMC Medical Genetics · 2014 · 44 citations · Full text

Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling

Marta Gandía, Joaquín Fernández‐Toral, J Solanellas et al. · Pediatric Research · 2015 · 26 citations · Full text

Intrafamilial Phenotypic Variation, Developmental Biology, Mendelian Disorder +10

A unique case of a discontinuous duplication 3q26.1-3q28 resulting from a segregation error of a maternal complex chromosomal rearrangement involving an insertion and an inversion

Laura Rodríguez, Samarth Bhatt, Mónica Garcı́a-Castro et al. · Gene · 2013 · 14 citations

Genetic Disorder, Medicine, Genetics +11

Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1

Amaia Rodríguez Estévez, Gustavo Pérez de Nanclares, Joaquín Fernández‐Toral et al. · Journal of Pediatric Endocrinology and Metabolism · 2015 · 13 citations · Full text