Heckenlively, John R.

Top Publications

Top Publications Authored or Co-Authored by "Heckenlively, John R."

• CDH23 mutation and phenotype heterogeneity: A profile of 107 diverse families with Usher syndrome and nonsyndromic deafness

  American Journal of Human Genetics, Volume 71, No. 2, Year 2002, Citations 213
• Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

  Nature Genetics, Volume 22, No. 3, Year 1999, Citations 162
• Genetic heterogeneity of usher syndrome: Analysis of 151 families with usher type I

  American Journal of Human Genetics, Volume 67, No. 6, Year 2000, Citations 69
• Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel lca5 mutations and new genotype-phenotype correlations

  Human Mutation, Volume 34, No. 11, Year 2013, Citations 37
• Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association

  Physiological Genomics, Volume 49, No. 4, Year 2017, Citations 27