faculty photo

Elaine H. Zackai

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
 

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 JJ, Weinberger R, Moore TM, Calkins M, Guri Y, McDonald-McGinn DM, Zackai EH, Emanuel BS, Gur RE, Gothelf D, Gur RC: 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 TL, Miller JS, DePolo LM, deMarchena AB, Clements CC, Emanuel BS, Zackai EH, McDonald-McGinn DM, Schultz RT: Erratum to: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening. Mol Autism 7: 34, Jul 13 2016.

Lin AE, Michot C, Cormier-Daire V, L’Ecuyer TJ, Matherne GP, Barnes BH, Humberson JB, Edmondson AC, Zackai E, O’Connor MJ, Kaplan JD, Ebeid MR, Krier J, Krieg E, Ghoshhajra B, Lindsay ME: Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. Am J Med Genet A Page: Doi: 10.1002/ajmg.a.37739. [Epub ahead of print] Jun 14 2016.

Forbes BJ, McDonald-McGinn DM, Wooton G, Dawson L, Zackai E, Binenbaum G: Ocular findings associated with chromosome 22q11.2 duplication. J AAPOS 20(3): 278-80, Jun 2016.

Tooley M, Lynch D, Bernier F, Parboosingh J, Bhoj E, Zackai E, Calder A, Itasaki N, Wakeling E, Scott R, Lees M, Clayton-Smith J, Blyth M, Morton J, Shears D, Kini U, Homfray T, Carke A, Barnicoat A, Wallis C, Hewitson R, Offiah A, Saunders M, Langton-Hewer S, Hilliar T, Davis P, Smithson S: Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings. Am J Med Genet A 170(5): 1115-1126, May 2016.

Wenger TL, Miller JS, DePolo LM, de Marchena AB, Clements CC, Emanuel BS, Zackai EH, McDonald-McGinn DM, Schultz RT: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening. Mol Autism 7: 27, May 6 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.

Chen R, Shi L, Hakenberg J, Naughton B, Sklar P, Zhang J, Zhou H, Tian L, Prakash O, Lemire M, Sleiman P, Cheng WY, Chen W, Shah H, Shen Y, Fromer M, Omberg L, Deardorff MA, Zackai E, Bobe JR, Levin E, Hudson TJ, Groop L, Wang J, Hakonarson H, Wojcicki A, Diaz GA, Edelmann L, Schadt EE, Friend SH: Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. Nat Biotechnol 34(5): 531-538, May 2016.

back to top
Last updated: 09/08/2016
The Trustees of the University of Pennsylvania