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.
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Selected Publications

Kim DS, Kim JH, Burt AA, Crosslin DR, Burnham N, McDonald-McGinn DM, Zackai EH, Nicolson SC, Spray TL, Stanaway IB, Nickerson DA, Russell MW, Hakonarson H, Gaynor JW, Jarvik GP.: Patient Genotypes Impact Survival After Surgery for Isolated Congenital Heart Disease. Ann Thorac Surg. pii: S0003-4975(14)00595-5. doi: 10.1016/j.athoracsur.2014.03.017. [Epub ahead of print] May 5 2014.

Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA.: 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 Hum Genet 94(5): 784-789, May 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.

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.

Schmitt JE, Yi JJ, Roalf DR, Loevner LA, Ruparel K, Whinna D, Souders MC, McDonald-McGinn DM, Yodh E, Vandekar S, Zackai EH, Gur RC, Emanuel BS, Gur RE : Incidental radiologic findings in the 22q11.2 deletion syndrome. Am J Neuroradiol June 19 [Epub ahead of print]. 2014.

Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA: De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet 94(5): 784-789, 2014.

Stransky C, Basta M, McDonald-McGinn DM, Solot CB, Drummond D, Zackai E, Larossa D, Kirschner R, Jackson O : Perioperative risk factors in patients with 22q11.2 deletion syndrome requiring surgery for velopharyngeal dysfunction. Cleft Palate Craniofac J May 7 [Epub ahead of print]. 2014.

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Last updated: 08/22/2014
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