Selected Publications

Academic Article

Year Title Altmetric
2018 Systematic reanalysis of genomic data improves quality of variant interpretation.Clinical Genetics.  94:174-178. 2018
2018 Discovery and Validation of Circulating Biomarkers of Colorectal Adenoma by High-Depth Small RNA Sequencing.Clinical Cancer Research.  24:2092-2099. 2018
2018 Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.American Journal of Human Genetics.  102:985-994. 2018
2017 A genome-wide interactome of DNA-associated proteins in the human liver.PCR methods and applications.  27:1950-1960. 2017
2017 MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.PLoS Genetics.  13:e1006957. 2017
2017 Genomic diagnosis for children with intellectual disability and/or developmental delay.Genome Medicine.  9:43. 2017
2017 Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.American Journal of Human Genetics.  100:117-127. 2017
2016 De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.Neurology Genetics.  2:e120. 2016
2016 Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.Neurology Genetics.  2:e118. 2016
2016 Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results.Genetics in Medicine.  19:337-344. 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 seizures.Nature 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 locus.PLoS ONE.  2:e702. 2007

Education And Training

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

  • Gregory Cooper