Manuela Villamar

A Deletion Involving the Connexin 30 Gene in Nonsyndromic Hearing Impairment

Ignacio del Castillo, Manuela Villamar, Miguel A. Moreno‐Pelayo et al. · New England Journal of Medicine · 2002 · 585 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study

Ignacio del Castillo, Miguel A. Moreno‐Pelayo, Francisco Castillo et al. · The American Journal of Human Genetics · 2003 · 289 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (<i>OTOF</i>) in subjects with nonsyndromic hearing impairment and auditory neuropathy

Montserrat Rodríguez-Ballesteros, Raúl Reynoso, M. A. Gil Olarte et al. · Human Mutation · 2008 · 184 citations · Full text

Medicine, Genetics, Molecular Genetics +17

The A1555G Mutation in the 12S rRNA Gene of Human mtDNA: Recurrent Origins and Founder Events in Families Affected by Sensorineural Deafness

Antonio Torroni, Fulvio Cruciani, Chiara Rengo et al. · The American Journal of Human Genetics · 1999 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment

Margit Schraders, Laura Ruiz-Palmero, Ersan Kalay et al. · The American Journal of Human Genetics · 2012 · 93 citations · Full text

Medicine, Genetics, Molecular Genetics +11