Deardorff, Matthew A.

Top Publications

Top Publications Authored or Co-Authored by "Deardorff, Matthew A."

• The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

  Nature Genetics, Volume 49, No. 1, Year 2017, Citations 247
• A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

  Genetics in Medicine, Volume 24, No. 7, Year 2022, Citations 100
• Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

  Genetics in Medicine, Volume 23, No. 10, Year 2021, Citations 99
• Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

  Genetics in Medicine, Volume 23, No. 11, Year 2021, Citations 97
• Cornelia de Lange syndrome in diverse populations

  American Journal of Medical Genetics, Part A, Volume 179, No. 2, Year 2019, Citations 65