Selected Publications

Academic Article

Year Title Altmetric
2018 Systematic reanalysis of genomic data improves quality of variant interpretation 2018
2018 Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital AnomaliesAmerican Journal of Human Genetics.  102:985-994. 2018
2018 Discovery and validation of circulating biomarkers of colorectal adenoma by high-depth small RNA sequencingClinical Cancer Research.  24:2092-2099. 2018
2017 A genome-wide interactome of DNA-associated proteins in the human liverGenome Research.  27:1950-1960. 2017
2017 MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamusPLoS Genetics.  13. 2017
2017 Genomic diagnosis for children with intellectual disability and/or developmental delay 2017
2017 Eliciting preferences on secondary findings: The Preferences Instrument for Genomic Secondary ResultsGenetics in Medicine.  19:337-344. 2017
2017 Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial DysmorphismAmerican Journal of Human Genetics.  100:117-127. 2017
2016 De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy 2016
2016 Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy 2016
2008 Mapping and sequencing of structural variation from eight human genomes.Nature.  453:56-64. 2008
2008 A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizuresNature Genetics.  40:322-328. 2008
2008 Closing gaps in the human genome with fosmid resources generated from multiple individuals.Nature Genetics.  40:96-101. 2008
2007 Mammalian comparative sequence analysis of the Agrp locusPLoS One.  2. 2007

Education And Training

  • Doctor of Philosophy in Genetics, Stanford University 2006
  • Bachelor of Science or Mathematics in Genetics, Miami University of Ohio 2001
  • Full Name

  • Gregory Cooper