McDonald, Marie Theresa

Top Publications

Top Publications Authored or Co-Authored by "McDonald, Marie Theresa"

• Cornelia de Lange syndrome in diverse populations

  American Journal of Medical Genetics, Part A, Volume 179, No. 2, Year 2019, Citations 65
• Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

  American Journal of Human Genetics, Volume 102, No. 5, Year 2018, Citations 59
• A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

  European Journal of Human Genetics, Volume 29, No. 2, Year 2021, Citations 46
• Novel association of Dandy–Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome

  American Journal of Medical Genetics, Part A, Year 2023, Citations 14