Nabiha Salem

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

Shin’ichiro Yasunaga, M’hamed Grati, Martine Cohen‐Salmon et al. · Nature Genetics · 1999 · 585 citations

Medicine, Genetics, Molecular Genetics +13

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

Elisabeth Verpy, Michel Leibovici, Ingrid Zwaenepoel et al. · Nature Genetics · 2000 · 466 citations

Medicine, Genetics, Molecular Genetics +15

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Corinne Stoetzel, Virginie Laurier, Erica E. Davis et al. · Nature Genetics · 2006 · 286 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3

André Mégarbané, Nabiha Salem, Edouard Stéphan et al. · European Journal of Human Genetics · 2000 · 115 citations · Full text

Medicine, Genetics, Molecular Genetics +14

The molecular basis of familial hypercholesterolemia in Lebanon: Spectrum of<i>LDLR</i>mutations and role of<i>PCSK9</i>as a modifier gene

Marianne Abifadel, J. S., Sélim Jambart et al. · Human Mutation · 2009 · 96 citations

Medicine, Genetics, Molecular Genetics +17