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Elaine H. Zackai, MD

Elaine H. Zackai, MD

faculty photo
Professor of Pediatrics at the Children's Hospital of Philadelphia
Department: Pediatrics

Contact information
Clinical Genetics Center
The Children's Hospital of Philadelphia
34th and Civic Center Boulevard
Room 8C05
Philadelphia, PA 19104
Office: 215-590-2920
Fax: 215-590-3298
Lab: NA
Education:
B.A. (biology)
New York University, 1964.
M.D. (medicine)
New York University, 1968.
Permanent link
 
Perelman School of Medicine > Faculty > Search

Selected Publications

Diaz LK, Gaynor JW, Koh SJ, Ittenbach RF, Gerdes M, Bernbaum JC, Zackai EH, Clancy RR, Rehman MA, Pennington JW, Burnham N, Spray TL, Nicolson SC : Increasing cumulative exposure to volatile anesthetic agents is associated with poorer neurodevelopmental outcomes in children with hypoplastic left heart syndrome. J Thorac Cardiovasc Surg. 152(2): 482-489, Aug 2016.

Yi, J.J., Weinberger, R., Moore, T.M., Calkins, M., Guri, Y., McDonald-McGinn, D.M., Zackai, E.H., Emanuel, B.S., Gur, R.E., Gothelf, D., Gur, R.C.: : Performance on a computerized neurocognitive battery in 22q11.2 deletion syndrome: A comparsion betwee US and Israeli cohorts. Brain Cogn 106: 33-41, Jul 2016.

Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C; WGS500 Consortium, Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJ, Koopmans M, McDonald-McGinn DM, Santen GW, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Yuregir OO, Zackai EH, Ponting CP, Jackson AP, Wilkie AO, Niedzwiedz W, Bicknell LS.: Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis. Am J Hum Genet. 99(1): 125-138, Jul 7 2016.

Wenger, T.L., Miller, J.S., DePolo, L:M., de Marchena A.B., Clements, C.C., Emanuel, B.S., Zackai, E.H., McDonald-McGinn, D.M., Schultz, R.T.: Erratum to: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening. Mol Autism 7: 34, Jul 13 2016.

Fregeau B, Kim BJ, Hernández-García A, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Barañano K, Bosch DG, de Vries BB, Lindstrom K, Schroeder A, James P, Kulch P, Lalani SR, van Haelst MM, van Gassen KL, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH.: De novo mutations of RERE cause a genetic syndrome with features that overlap those associated with proximal 1p36 deletions. Am J Hum Genet. 98(5): 963-970, May 5 2016.

Kim DS, Kim JH, Burt AA, Crosslin DR, Burnham N, Kim CE, McDonald-McGinn DM, Zackai EH, Nicolson SC, Spray TL, Stanaway IB, Nickerson DA, Heagerty PJ, Hakonarson H, Gaynor JW, Jarvik GP.: Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival. J Thorac Cardiovasc Surg. 151(4): 1147-1151, Apr 2016.

Mulchandani S, Bhoj EJ, Luo M, Powell-Hamilton N, Jenny K, Gripp KW, Elbracht M, Eggermann T, Turner CL, Temple IK, Mackay DJ, Dubbs H, Stevenson DA, Slattery L, Zackai EH, Spinner NB, Krantz ID, Conlin LK: Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure. Genet Med 18(4): 309-315, April 2016.

Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK; UCLA Clinical Genomics Center, van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R; Care4Rare Canada Consortium, Bulman DE, Boycott KM, Lines MA.: Mandibulofacial dysostosis with microcephaly: mutation and database update. Hum Mutat. 37(2): 148-154, Feb 2016.

Wenger, T.L., Kao, C., McDonald-McGinn, D.M., Zackai, E.H., Bailey, A., Schultz, R.T., Morrow, B.E., Emanuel, B.S., Hakonarson, H.: The role of mGluR copy number variation in genetic and environmental forms of syndromic autism spectrum disorder. Sci Rep 6: 19372, Jan 19 2016.

Hestand, M.S., Nowakowska, B.A., Vergaelen, E., Van Houdt, J., Dehaspe, L., Del-Favero, J., Zackai, E., Swillen, A., Devriendt, K., Gur, R., McDonald-McGinn, D.M., Warren, S.T., Emanuel, B.S., and Vermeesch, J.R.: A catalog of hemizygous variation in 127 22q11 deletion patients.  Human Genome Variation 3: 15-65, 2016.

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Last updated: 08/18/2016
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