Johnson, Diana S.

Top Publications

Top Publications Authored or Co-Authored by "Johnson, Diana S."

• Phenotype and genotype in 101 males with x-linked creatine transporter deficiency

  Journal of Medical Genetics, Volume 50, No. 7, Year 2013, Citations 121
• 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
• Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

  American Journal of Medical Genetics, Part A, Volume 158 A, No. 11, Year 2012, Citations 47
• Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

  Genetics in Medicine, Volume 23, No. 7, Year 2021, Citations 44
• Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

  Human Mutation, Volume 39, No. 9, Year 2018, Citations 36