Masmoudi, Saber

Top Publications

Top Publications Authored or Co-Authored by "Masmoudi, Saber"

• Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

  Human Molecular Genetics, Volume 12, No. 5, Year 2003, Citations 306
• Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus

  Nature Genetics, Volume 29, No. 3, Year 2001, Citations 170
• Amissense mutation in DCDC2 causeshuman recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation

  Human Molecular Genetics, Volume 24, No. 9, Year 2015, Citations 90
• A year of genomic surveillance reveals how the SARS-CoV-2 pandemic unfolded in Africa

  Science, Volume 374, No. 6566, Year 2021, Citations 89
• Consanguinity and endogamy in Northern Tunisia and its impact on non-syndromic deafness

  Genetic Epidemiology, Volume 27, No. 1, Year 2004, Citations 78