McGaughran, Julie M.

Top Publications

Top Publications Authored or Co-Authored by "McGaughran, Julie M."

• Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients

  Human Mutation, Volume 29, No. 10, Year 2008, Citations 100
• Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

  PLoS Genetics, Volume 13, No. 3, Article e1006683, Year 2017, Citations 46
• 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
• Evolutionary dissection of mtDNA hg H: a susceptibility factor for hypertrophic cardiomyopathy

  Mitochondrial DNA Part A: DNA Mapping, Sequencing, and Analysis, Volume 31, No. 6, Year 2020, Citations 2