Beverly S. Emanuel, PhD

Areas of Expertise: High-resolution mapping of chromosome 22 and its several disease-related rearrangements, Non-random chromosomal abnormalities of both the inherited (syndrome-associated) and acquired (tumor-associated) types
Locations: Main Campus
Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)

  • Education and Training

    Medical School

    University of Pennsylvania, Philadelphia, Pa.

    Additional Training

    The Children's Hospital of Philadelphia, Philadelphia, Pa.

    Board Certification

    American Board of Genetics
    American Board of Genetics/Cytogenetics

    Undergraduate Degree

    University of Pennsylvania, Philadelphia, Pa.

  • Titles and Academic Titles

    Chief, Division of Human Genetics and Molecular Biology

    The Charles E. Upham Professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania

  • Departments and Services
  • Publications


    McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 Deletion Syndrome. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.1999 Sep 23 [updated 2005 Dec 16].

    Medne L, Zackai EH, Emanuel BS. Emanuel Syndrome . In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.
    2007 Apr 20 [updated 2010 May 11].


    Sheridan MB, Kato T, Haldeman-Englert C, Jalali GR, Milunsky JM, Zou Y, Klaes R, Gimelli G, Gimelli S, Gemmill RM, Drabkin HA, Hacker AM, Brown J, Tomkins D, Shaikh TH, Kurahashi H, Zackai EH, Emanuel BS. A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21). Am J Hum Genet. 2010 Aug 13;87(2):209-18. Epub 2010 Jul 30. Read abstract.


     Carter MT, Barrowman NJ, St Pierre SA, Emanuel BS, Boycott KM. Risk of breast cancer not increased in translocation 11;22 carriers: analysis of 80 pedigrees. Am J Med Genet A. 2010 Jan;152A(1):212-4. No abstract available.


    Tong M, Kato T, Yamada K, Inagaki H, Kogo H, Ohye T, Tsutsumi M, Wang J, Emanuel BS, Kurahashi H. Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm. Hum Mol Genet. 2010 Jul 1;19(13):2630-7. Epub 2010 Apr 13. Read abstract.




    Vorstman JA, van Daalen E, Jalali GR, Schmidt ER, Pasterkamp RJ, de Jonge M, Hennekam EA, Janson E, Staal WG, van der Zwaag B, Burbach JP, Kahn RS, Emanuel BS, van Engeland H, Ophoff RA. Mol Psychiatry.  A double hit implicates DIAPH3 as an autism risk gene. 2010 Mar 23. [Epub ahead of print]. Read abstract


    Ohye T, Inagaki H, Kogo H, Tsutsumi M, Kato T, Tong M, Macville MV, Medne L, Zackai EH, Emanuel BS, Kurahashi H. Paternal origin of the de novo constitutional t(11;22)(q23;q11). Eur J Hum Genet. 2010 Jul;18(7):783-7. Epub 2010 Feb 24. Read abstract.