Margretta Reed Seashore MD

Professor of Genetics, of Laboratory Medicine, of Nursing and of Pediatrics; Director, Biochemical Disease Detection Laboratory

Departments & Organizations

Yale Medical Group

Office of Student ResearchPediatrics: Pediatric Specialty Center | Genetics: Genetics Consultation Service | Laboratory Medicine

Yale School of Nursing

Research Interests

Clinical Genetics; Inborn errors of metabolism, diagnosis and treatment more...


  • AB, Swarthmore College, 1961
  • M.D., Yale University, 1965

Selected Publications

  • Waisbren SE, Albers S, Amato S, Ampola M, Brewster TG, Demmer L, Eaton RB, Greenstein R, Korson M, Larson C, Marsden D, Msall M, Naylor EW, Pueschel S, Seashore M, Shih VE, Levy HL. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA. 2003 Nov 19;290(19):2564-72. PMID: 14625333 [PubMed - indexed for MEDLINE]
  • Waisbren SE, Read CY, Ampola M, Brewster TG, Demmer L, Greenstein R, Ingham CL, Korson M, Msall M, Pueschel S, Seashore M, Shih VE, Levy HL; New England Consortium of Metabolic Programs. Newborn screening compared to clinical identification of biochemical genetic disorders. J Inherit Metab Dis. 2002 Nov;25(7):599-600. PMID: 12638945 [PubMed - indexed for MEDLINE]
  • Seashore MR. Tetrahydrobiopterin and dietary restriction in mild phenylketonuria. N Engl J Med. 2002 Dec 26;347(26):2094-5. No abstract available. PMID: 12501220 [PubMed - indexed for MEDLINE]



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