EDUCATION

Undergraduate Degree

  • Oberlin College , 1960 , Oberlin , OH

Medical School

  • University of Rochester School of Medicine and Dentistry , 1964 , Rochester , NY

Internship

Pediatrics
  • Bronx Municipal Hospital , 1965 , Bronx , NY

Residency

Pediatrics
  • Stanford University Hospital , 1968 , Stanford , CA

Fellowship

Genetics
  • Stanford University Hospital , 1970 , Stanford , CA

CERTIFICATIONS

  • American Board of Medical Genetics and Genomics, Clinical Biochemical Genetics

PUBLICATIONS

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  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? . 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. . 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