Salvatore Melchionda
Casa Sollievo della Sofferenza(IT)
Publications by Year
Research Areas
Hearing, Cochlea, Tinnitus, Genetics, Vestibular and auditory disorders, Connexins and lens biology, Congenital heart defects research, Neuroscience of respiration and sleep
Most-Cited Works
- → Connexin-26 mutations in sporadic and inherited sensorineural deafness(1998)642 cited
- → Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus(1999)397 cited
- → High carrier frequency of the 35delG deafness mutation in European populations(2000)389 cited
- → MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss(2001)241 cited
- → Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene(2000)219 cited
- → Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)(2004)169 cited
- → Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment(2004)132 cited
- → A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness(2007)125 cited
- → Multiple Mutations ofMYO1A, a Cochlear-Expressed Gene, in Sensorineural Hearing Loss(2003)105 cited
- → Localization of the Congenital Dyserythropoietic Anemia II Locus to Chromosome 20q11.2 by Genomewide Search(1997)100 cited