Elaine H. Zackai, MD

Elaine H. Zackai, MD, is the director of Clinical Genetics at The Children's Hospital of Philadelphia.

Areas of Expertise: Applied clinical research with an emphasis on questions that have arisen from clinical situations
Locations: Main Campus; Specialty Care & Surgery Center, Voorhees
Phone: 215-590-2920

  • Education and Training

    Medical School

    New York University School of Medicine, New York, NY


    Albert Einstein School of Medicine, New York, NY


    St. Louis Children's Hospital, St. Louis, MO


    Yale University, New Haven, CT

    Board Certification

    American Board of Medical Genetics/ Clinical Genetics and Cytogenetics
    American Board of Pediatrics

  • Titles and Academic Titles

    Director, Clinical Genetics

  • Departments and Services
  • Publications


    Gaynor JW, Gerdes M, Nord AS, Bernbaum J, Zackai E, Wernovsky G, Clancy RR, Heagerty PJ, Solot CB, McDonald-McGinn D, Jarvik GP. Is cardiac diagnosis a predictor of neurodevelopmental outcome after cardiac surgery in infancy? J Thorac Cardiovasc Surg. 2010 Oct 14. [Epub ahead of print] Read abstract.

    Ahmad Z, Zackai E, Medne L, Garg A. Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. Am J Med Genet A. 2010 Nov;152A(11):2703-10. Read abstract.

    Haldeman-Englert CR, Biser A, Zackai EH, Ming JE. A 223-kb de novo deletion of PAX9 in a patient with oligodontia. J Craniofac Surg. 2010 May;21(3):837-9. Read abstract

    Barry GP, Ny BM, Zackai EH, Grunwald L, Forbes BJ. A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings. Ophthalmic Genet. 2010 Sep 1. [Epub ahead of print] Read abstract.


    Haldeman-Englert CR, Chapman KA, Kruger H, Geiger EA, McDonald-McGinn DM, Rappaport E, Zackai EH, Spinner NB, Shaikh TH. A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21. Am J Med Genet A. 2010 Jan;152A(1):196-202. Read abstract

    Sampson MG, Coughlin CR 2nd, Kaplan P, Conlin LK, Meyers KE, Zackai EH, Spinner NB, Copelovitch L. Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. Am J Med Genet A. 2010 Aug 26. [Epub ahead of print] Read abstract.


    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.


    McDonald-McGinn DM, Feret H, Nah HD, Bartlett SP, Whitaker LA, Zackai EH. Metopic craniosynostosis due to mutations in GLI3: A novel association. Am J Med Genet A. 2010 Jul;152A(7):1654-60. Read abstract.


    Crowley MA, Conlin LK, Zackai EH, Deardorff MA, Thiel BD, Spinner NB. Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum. Am J Med Genet A. 2010 May;152A(5):1326-7. No abstract available.


    Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE.  A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet. 2010 Mar;42(3):203-9. Epub 2010 Feb 14. Read abstract.






    Burnham N, Ittenbach RF, Stallings VA, Gerdes M, Zackai E, Bernbaum J, Clancy RR, Gaynor JW. Genetic factors are important determinants of impaired growth after infant cardiac surgery. J Thorac Cardiovasc Surg. 2010 Jul;140(1):144-9. Epub 2010 Apr 9. Read abstract