Gholson J Lyon
Affiliation: The Children's Hospital of Philadelphia
- Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implicationsGholson J Lyon
Department of Psychiatry, University of Utah, Salt Lake City, USA
Discov Med 12:41-55. 2011....
- Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiencyAlan F Rope
Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, 84112, USA
Am J Hum Genet 89:28-43. 2011..Here we provide evidence of a human genetic disorder resulting from direct impairment of N-terminal acetylation, one of the most common protein modifications in humans...
- Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorderJosephine Elia
Department of Psychiatry, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
Nat Genet 44:78-84. 2012..38 × 10(-10)) after correction for occurrence in the controls. We identified rare recurrent CNVs affecting glutamatergic neurotransmission genes that were overrepresented in multiple ADHD cohorts...