Slim, Rima

Top Publications

Top Publications Authored or Co-Authored by "Slim, Rima"

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

  Nature Genetics, Volume 26, No. 1, Year 2000, Citations 471
• A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21

  Human Molecular Genetics, Volume 6, No. 1, Year 1997, Citations 122
• Townes-Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient

  Human Mutation, Volume 14, No. 5, Year 1999, Citations 83
• Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7

  European Journal of Human Genetics, Volume 21, No. 9, Year 2013, Citations 66
• The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients

  Modern Pathology, Volume 31, No. 7, Year 2018, Citations 39