Hill, Robert Sean

Top Publications

Top Publications Authored or Co-Authored by "Hill, Robert Sean"

• Synaptic, transcriptional and chromatin genes disrupted in autism

  Nature, Volume 515, No. 7526, Year 2014, Citations 2252
• Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

  Nature Genetics, Volume 36, No. 9, Year 2004, Citations 406
• Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of walker-warburg syndrome

  American Journal of Human Genetics, Volume 91, No. 3, Year 2012, Citations 174
• SLC25A22 is a novel gene for migrating partial seizures in infancy

  Annals of Neurology, Volume 74, No. 6, Year 2013, Citations 115
• Ethnically diverse causes of walker-warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the middle east

  Human Mutation, Volume 29, No. 11, Year 2008, Citations 69