Curry, Cynthia J.R.

Top Publications

Top Publications Authored or Co-Authored by "Curry, Cynthia J.R."

• Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

  Science, Volume 319, No. 5864, Year 2008, Citations 382
• 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
• Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

  American Journal of Medical Genetics, Part A, Volume 185, No. 1, Year 2021, Citations 74
• Redefining the Etiologic Landscape of Cerebellar Malformations

  American Journal of Human Genetics, Volume 105, No. 3, Year 2019, Citations 57
• De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

  American Journal of Human Genetics, Volume 105, No. 3, Year 2019, Citations 34