FitzPatrick, David R.

Top Publications

Top Publications Authored or Co-Authored by "FitzPatrick, David R."

• Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

  Nature Genetics, Volume 48, No. 9, Year 2016, Citations 329
• KMT2B-related disorders: Expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

  Brain, Volume 143, No. 11, Year 2020, Citations 100
• Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

  American Journal of Human Genetics, Volume 107, No. 4, Year 2020, Citations 99
• The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

  Genetics in Medicine, Volume 24, No. 8, Year 2022, Citations 46
• SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation

  Annals of Neurology, Volume 88, No. 2, Year 2020, Citations 37