Kaplan, Josseline C.

Top Publications

Top Publications Authored or Co-Authored by "Kaplan, Josseline C."

• Mainzer-saldino syndrome is a ciliopathy caused by IFT140 mutations

  American Journal of Human Genetics, Volume 90, No. 5, Year 2012, Citations 180
• Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: The burden of private mutations in an extensively heterogeneous disease

  Human Genetics, Volume 127, No. 5, Year 2010, Citations 123
• 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
• Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

  Brain, Volume 140, No. 10, Year 2017, Citations 92
• Recessive mutations in RTN4IP1 cause isolated and syndromic optic neuropathies

  American Journal of Human Genetics, Volume 97, No. 5, Year 2015, Citations 56