faculty photo

Elaine H. Zackai, MD

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

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.

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.

Yu HC, Geiger EA, Medne L, Zackai EH, Shaikh TH.: An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. Am J Med Genet A 164A(4): 950-7, Apr 2014.

Gaynor JW, Ittenbach RF, Gerdes M, Bernbaum J, Clancy RR, McDonald-McGinn DM, Zackai EH, Wernovsky G, Nicolson SC, Spray TL.: Neurodevelopmental outcomes in preschool survivors of the Fontan procedure. J Thorac Cardiovasc Surg 147(4): 1276-82, April 2014.

Yi JJ, Tang SX, McDonald-McGinn DM, Calkins ME, Whinna DA, Souders MC, Zackai EH, Goldmuntz E, Gaynor JW, Gur RC, Emanuel BS, Gur RE.: Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome. Am J Med Genet B Neuropsychiatr Genet 165B(2): 137-47, Marc 2014.

Schneider M, Debbané M, Bassett AS, Chow EW, Fung WL, van den Bree MB, Owen M, Murphy KC, Niarchou M, Kates WR, Antshel KM, Fremont W, McDonald-McGinn DM, Gur RE, Zackai EH, Vorstman J, Duijff SN, Klaassen PW, Swillen A, Gothelf D, Green T, Weizman A, Van Amelsvoort T, Evers L, Boot E, Shashi V, Hooper SR, Bearden CE, Jalbrzikowski M, Armando M, Vicari S, Murphy DG, Ousley O, Campbell LE, Simon TJ, Eliez S; for the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.: Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. Am J Psychiatry doi: 10.1176/appi.ajp.2013.13070864. [Epub ahead of print] Feb 28 2014.

Johnston Jennifer J, Sapp Julie C, Curry Cynthia, Horton Margaret, Leon Eyby, Cusmano-Ozog Kristina, Dobyns William B, Hudgins Louanne, Zackai Elaine, Biesecker Leslie G: Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. American journal of medical genetics. Part A 164A(1): 120-8, Jan 2014.

Gur RE, Yi JJ, McDonald-McGinn DM, Tang SX, Calkins ME, Whinna D, Souders MC, Savitt A, Zackai EH, Moberg PJ, Emanuel BS, Gur RC. : Neurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities. Mol Psychiatry doi: 10.1038/mp.2013.189. [Epub ahead of print] Jan 21 2014.

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Last updated: 09/10/2014
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