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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.
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Selected Publications

Tahiri Y, Bastidas N, McDonald-McGinn DM, Birgfeld C, Zackai EH, Taylor J, Bartlett SP: New Pattern of Sutural Synostosis Associated with TWIST Gene Mutation and Saethre-Chotzen Syndrome: Peace Sign Synostosis. J Craniofac Surg 26(5): 1564-7, Jul 2015.

Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH. : Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. J Med Genet. 52: 104-110, Feb 2015.

Mlynarski E, Sheridan M, Xie M, Guo T, Racedo S, McDonald-McGinn D, Gai X, Chow E, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio M, Marino M, Dallapiccola D, Philip N, Roberts A, Simon T, Piotrowicz M, Bearden C, Eliez S, Doron G, Coleman K, Kates W, Devoto M, Zakcai E, Heine-Su┼łer, Shaikh T, Bassett A, Goldmuntz E, Morrow B, Emanuel B. : Copy Number Variation of the glucose transport gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. Am J Hum Genet. 5: 753-764, 2015.

McDonald-McGinn DM, Sullivan, K, Marino B, Philip, N, Swillen A, Vortsman, J, Zackai EH, Emanuel B, Vermeesch J, Morrow B, Scambler P, Bassett A : DiGeorge Syndrome Due to a Chromosome 22q11.2 Deletion. Nature Review Page: In Press, 2015.

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, Hakonaron H, Gaynor W, Jarvik GP : Burden Of Potentially Pathologic Copy Number Variants Is Higher In Children With Isolated Congenital Heart Disease And Significantly Impairs Covariate-Adjusted Long-Term Survival. J Crainofac Surg. Page: In Press, 2015.

Tang Sunny X, Yi James J, Moore Tyler M, Calkins Monica E, Kohler Christian G, Whinna Daneen A, Souders Margaret C, Zackai Elaine H, McDonald-McGinn Donna M, Emanuel Beverly S, Bilker Warren B, Gur Ruben C, Gur Raquel E: Subthreshold psychotic symptoms in 22q11.2 deletion syndrome. Journal of the American Academy of Child and Adolescent Psychiatry 53(9): 991-1000.e2, Sep 2014.

Schmitt JE, Vandekar S, Yi J, Calkins ME, Ruparel K, Roalf DR, Whinna D, Souders, MC, Satterthwaite TD, Prabhakaran K, McDonald-Mcginn DM, Zackai EH, Gur RC, Emanuel BS, Gur RE: Aberrant Cortical Morphometry in the 22q11.2 Deletion Syndrome. Biological Psychiatry. 53(9): 991-1000, Sep 2014.

Wenger Tara L, Harr Margaret, Ricciardi Stefania, Bhoj Elizabeth, Santani Avni, Adam Margaret P, Barnett Sarah S, Ganetzky Rebecca, McDonald-McGinn Donna M, Battaglia Domenica, Bigoni Stefania, Selicorni Angelo, Sorge Giovanni, Monica Matteo Della, Mari Francesca, Andreucci Elena, Romano Silvia, Cocchi Guido, Savasta Salvatore, Malbora Baris, Marangi Giuseppe, Garavelli Livia, Zollino Marcella, Zackai Elaine H: CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases. American journal of medical genetics. Part A Aug 2014.

Mirzaa Ghayda M, Enyedi Laura, Parsons Gretchen, Collins Sarah, Medne Livija, Adams Carissa, Ward Thomas, Davitt Bradley, Bicknese Alma, Zackai Elaine, Toriello Helga, Dobyns William B, Christian Susan: Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature. American journal of medical genetics. Part A Aug 2014.

Basta Marten N, Silvestre Jason, Stransky Carrie, Solot Cynthia, Cohen Marilyn, McDonald-McGinn Donna, Zackai Elaine, Kirschner Richard, Low David W, Randall Peter, LaRossa Don, Jackson Oksana A: A 35-Year Experience With Syndromic Cleft Palate Repair: Operative Outcomes and Long-term Speech Function. Annals of plastic surgery Jul 2014.

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Last updated: 08/26/2015
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