Current Environment: Production

Medical Services

Programs & Services

Languages

  • English

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

Certifications

  • American Board of Medical Genetics and Genomics (Clinical Genetics)
  • American Board of Pediatrics (General)

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
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