Research Overview

Dr. David Harris has participated in developing a better understanding of a number of genetic disorders. He is part of the Developmental Anatomy Project (PI: Cynthia Morton, PhD) that has been identifying genes through the device of interruptions through balanced chromosome rearrangements.

Research Background

Dr Harris earned his MD from the University of Rochester. Following a pediatric internship in the Albert Einstein College of Medicine Program, he was in the Epidemiology Intelligence Service of CDC. That was followed by residency and fellowship at Stanford. He returned to the CDC laboratory in Kansas City where he started a laboratory that screened cord blood for hemoglobinopathies. He moved to Children’s Mercy Hospital where he established the Section of Genetics, retiring in 1999. After 2 years of undergraduate teaching he joined the Division of Genetics at Boston Children’s Hospital, providing diagnostic and counseling services to families with general genetic problems and care of children with inborn errors of metabolism. His continuing interest in ethics is reflected in his mentorship of the walk round discussions of ethical problems.

Selected Publications

  1. Harris, D.J., Yang, B.I.-Y., Wolf, B., and Snodgrass, P.J.,Dysautonomic symptoms in an infant with secondary hyperammonemia due to propionyl-
    CoA carboxylase deficiency: precipitation of symptoms by therapy. Pediatrics, 1980; 65:107.
  2. Ligon AH, Moore SDP, Parisi MA, Mealiffe ME, Harris DJ, Ferguson HL, Quade BJ, Morton CC, Constitutional rearrangement of the architectural
    factor HMGA2: a novel human phenotype including overgrowth and lipomas, Am J Human Genet 2005; 76:340-348.
  3. Talkowski ME, Maussion G, Crapper L, Rosenfeld JA, Blumenthal I, Hanscom C, Chiang C, Lindgren A, Pereira S, Ruderfer D, Diallo AB, Lopez JP,
    Turecki G, Chen ES, Gigek C, Harris DJ, Lip V, An Y, Biagioli M, Macdonald ME, Lin M, Haggarty SJ, Sklar P, Purcell S, Kellis M, Schwartz S, Shaffer
    LG, Natowicz MR, Shen Y, Morton CC, Gusella JF, Ernst C. Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental
    disabilities. Am J Hum Genet. 2012 Dec 7;91(6):1128-34.
  4. Jamuar SS, Newton SA, Prabhu SP, Hecht L, Costas KC, Wessel AE, Harris DJ, Anselm I, Berry GT. Rhabdomyolysis, acute renal failure, and
    cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I. Mol Genet Metab. 2012 Aug;106(4):488-90. Epub 2012 May 30.
  5. McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta
    SG, Robertson SP, Swanson JM, Faustman EM, Mefford HC, Shendure J, Nickerson DA, Bamshad MJ; Mutations in ECEL1 cause distal
    arthrogryposis Type 5d. Am J Hum Genet. 2013 Jan 10;92(1):150-156. doi: 10.1016/j.ajhg.2012.11.014
  6. Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, Agrawal PB, Beggs
    AH. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - Support for the role of K(ATP) channels in this condition.
    Eur J Med Genet. 2013 Dec;56(12):678-82.
  7. Olson H, Shen Y, Avallone J, Sheidley BR, Pinsky R, Bergin AM, Berry GT, Duffy FH, Eksioglu Y, Harris DJ, Hisama FM, Ho E, Irons M, Jacobsen
    CM, James P, Kothare S, Khwaja O, Lipton J, Loddenkemper T, Markowitz J, Maski K, Megerian JT, Neilan E, Raffalli PC, Robbins M, Roberts A,
    Roe E, Rollins C, Sahin M, Sarco D, Schonwald A, Smith SE, Soul J, Stoler JM, Takeoka M, Tan WH, Torres AR, Tsai P, Urion DK, Weissman L,
    Wolff R, Wu BL, Miller DT, Poduri A. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 May 9.
    doi:10.1002/ana.24178. [Epub ahead of print] PubMed PMID: 24811917.

Education

Undergraduate School

Oberlin College
Oberlin

Medical School

University of Rochester School of Medicine and Dentistry
Rochester NY

Internship

Pediatrics Bronx Municipal Hospital
Bronx NY

Residency

Pediatrics Stanford University Hospital
Stanford CA

Fellowship

Genetics Stanford University Hospital
Stanford CA

Publications

  1. Genetic testing for developmental delay: keep searching for an answer. Clin Chem. 2009 Apr; 55(4):827-30; discussion 830-2. View Abstract
  2. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet. 2008 Mar; 82(3):712-22. View Abstract
  3. Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet. 2008 Jan; 82(1):199-207. View Abstract
  4. Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes? Am J Med Genet A. 2007 Aug 01; 143A(15):1796-8. View Abstract
  5. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med. 2007 Jul; 9(7):427-41. View Abstract
  6. NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet. 2007 May 25; 3(5):e80. View Abstract
  7. Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice. Am J Hum Genet. 2007 Apr; 80(4):792-9. View Abstract
  8. Candidate loci for Zimmermann-Laband syndrome at 3p14.3. Am J Med Genet A. 2007 Jan 15; 143A(2):107-11. View Abstract
  9. Trisomy 8 mosaicism in a patient with heterotaxia. Birth Defects Res A Clin Mol Teratol. 2005 Jan; 73(1):58-60. View Abstract
  10. Constitutional rearrangement of the architectural factor HMGA2: a novel human phenotype including overgrowth and lipomas. Am J Hum Genet. 2005 Feb; 76(2):340-8. View Abstract
  11. Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr). Blood. 2004 Mar 15; 103(6):2401-3. View Abstract

Contact David J. Harris