Krantz, Ian David

Top Publications

Top Publications Authored or Co-Authored by "Krantz, Ian David"

• ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

  Genetics in Medicine, Volume 21, No. 10, Year 2019, Citations 70
• Cornelia de Lange syndrome in diverse populations

  American Journal of Medical Genetics, Part A, Volume 179, No. 2, Year 2019, Citations 65
• Redefining the Etiologic Landscape of Cerebellar Malformations

  American Journal of Human Genetics, Volume 105, No. 3, Year 2019, Citations 57
• Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

  Genetics in Medicine, Volume 24, No. 8, Year 2022, Citations 51
• Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

  Genetics in Medicine, Volume 23, No. 11, Year 2021, Citations 51