Salvatore Melchionda

Connexin-26 mutations in sporadic and inherited sensorineural deafness

Xavier Estivill, Paolo Fortina, Saul Surrey et al. · The Lancet · 1998 · 642 citations · Full text

High carrier frequency of the 35delG deafness mutation in European populations

Paolo Gasparini, Raquel Rabionet, Guido Barbujani et al. · European Journal of Human Genetics · 2000 · 389 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +11

MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss

Salvatore Melchionda, Nadav Ahituv, Luigi Bisceglia et al. · The American Journal of Human Genetics · 2001 · 238 citations · Full text

Is Mutated, Developmental Biology, Mendelian Disorder +11

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene

Raquel Rabionet, Leopoldo Zelante, Núria López-Bigas et al. · Human Genetics · 2000 · 219 citations

Developmental Biology, Genetic Disorder, Childhood Deafness +6

Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)

Francesca Donaudy, Rik L. Snoeckx, Markus Pfister et al. · The American Journal of Human Genetics · 2004 · 167 citations · Full text

Patients Affected, Genetic Disorder, Genetics +8