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.
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Selected Publications

oalf DR, Eric Schmitt J, Vandekar SN, Sattethwaite TD, Shinohara RT, Ruparel K, Elliott MA, Prabhakaran K, McDonald-McGinn DM, Zackai EH, Gur RC, Emanuel VS, Gur RE : White matter microstructural deficits in 22q11.2 deletion syndrome. Psychiatry Res 268: 35-44, Oct 2017.

Niarchou M, Moore TM, Tang SX, Calkins ME, McDonald-McGinn DM, Zackai Eh, Emanuel BS, Gur RC, Gur RE : The dimensional structure of psychopathology in 22q11.2 deletion syndrome. J Psychiatr 92: 124-131, Sep 2017.

Emondson AC, Bedoukian EC, Deardorff MA, McDonald-McGinn DM, Li X, He M, Zackai EH : A human case of SLC35A3-related skeletal dysplasia. Am J Med Genet A [epub ahead of print], Aug 2017.

Bean Jaworski JL, Flynn T, Burnham N, Chittams JL, Sammarco T, Gerdes M, Bernbaum JC, Clancy RR, Solot CB, Zackai, EH, McDonald-McGinn DM, Gaynor JW : Rates of autism and potential risk factors in children with congenital heart defects. Congenit Heart Dis 12(4): 421-429, Jul 2017.

Bassett AS, Lowther C, Merico D, Costain G, Chow EWC, van Amelsvoort T, McDonald-McGinn D, Gur RE, Swillen A, Van den Bree M, Murphy K, Gothelf D, Bearden CE, Eliez S, Kates W, Philip N, Sashi V,Campbell L, Vorstman J, Cubells J, Repetto GM, Simon T, Boot E, Heung T, Evers R, Vingerhoets C, van Duin E, Zackai E, Vergaelen E, Devriendt K, Vermeesch JR, Owen M, Murphy C, Michaelovosky E, Kushan L, Schneider M, Fremont W, Busa T, Hooper S, McCabe K, Duijff S, Isaev K, Pellecchia G, Wei J, Gazzellone MJ, Scherer SW, Emanuel BS, Guo T, Morrow BE, Marshall CR; International 22q11.2DS Brain and Behavior Consortium : Rare genome-wide copy number variation and expression of schizophrenia in 22q11.2 deletion syndrome. Am J Psychiatry [epub ahead of print], Jul 2017.

Tang SX, Moore TM, Calkins ME, Yi JJ, Savitt A, Kohler CG, Souders MC, Zackai EH, McDonald-McGinn DM, Emanuel BS, Gur RC, Gur RE : The psychosis spectrum in 22q11.2 deletion syndrome is comparable to that of nondeleted youths. Biol Psychiatry 82(1): 17-25, Jul 2017.

Tang SX, Moore TM, Calkins ME, Yi JJ, McDonald-McGinn DM, Zackai EH, Emanuel BS, Gur RC, Gur RE : Emergent, remitted and persistent psychosis-spectrum symptoms in 22q11.2 deletion syndrome. Transl Psychiatry 7(7): e1180. doi: 10.1038/tp.2017.157, Jul 2017.

Schultz AH, Ittenbach RF, Gerdes M, Jarvik GP, Wernovsky G, Bernbaum J, Solot C, Clancy RR, Nicolson SC, Spray TL, McDonald-McGinn Dm, Zackai E, Gaynor JW: Effect of congenital heart disease on 4-year neurodevelopment within multiple-gestation births. J Thorac Cardiovasc Surg 154(1): 273-281, Jul 2017.

Platzer K, Yuan H, Schutz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Stromme P, Biskup S, Docker D, Strom TM, Mefford HC, Myers CT, Muir Am, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Moller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg Em, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer FJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR : GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J Med Genet 54(7): 460-470, Jul 2017.

Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, Devinsky O, Duffourd Y, Duplomb-Jego L, Gérard B, Jacquette A, Kuentz P, Masurel-Paulet A, McDougall C, Moutton S, Olivié H, Park SM, Rauch A, Revencu N, Rivière JB, Rubin K, Simonic I, Shears DJ, Smol T, Taylor Tavares AL, Terhal P, Thevenon J, Van Gassen K, Vincent-Delorme C, Willemsen MH, Wilson GN, Zackai E, Zweier C, Callier P, Thauvin-Robinet C, Faivre L : STAG1 mutations cause a novel cohesinopathy characterized by unspecific syndromic intellectual disability. J Med Genet 54(7): 479-488, Jul 2017.

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Last updated: 09/13/2017
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