Reardon, William

Top Publications

Top Publications Authored or Co-Authored by "Reardon, William"

• 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
• Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies

  American Journal of Human Genetics, Volume 88, No. 5, Year 2011, Citations 113
• Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

  European Journal of Human Genetics, Volume 20, No. 6, Year 2012, Citations 102
• 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
• Genotype-phenotype analysis of the branchio-oculo-facial syndrome

  American Journal of Medical Genetics, Part A, Volume 155, No. 1, Year 2011, Citations 67