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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

Zarate YA, Bosanko KA, Bhoj E, Ganetzky R, Starr LJ, Zackai EH, Schaefer GB: Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses. Am J Med Genet A 167(9): 2168-75, Sep 2015.

Van Laarhoven PM, Neitzel LR, Quintana AM, Geiger EA, Zackai EH, Clouthier DE, Artinger KB, Ming JE, Shaikh TH: Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. Hum Mol Genet 24(15): 4443-53, Aug 2015.

Ahrens-Nicklas RC, Reichert SL, Zackai EH, Kaplan PB: Atypical Williams syndrome in an infant with complete atrioventricular canal defect. Am J Med Genet A doi: 10.1002/ajmg.a.37288 [Epub ahead of print] Aug 2015.

Mulchandani S, Bhoj EJ, Luo M, Powell-Hamilton N, Jenny K, Gripp KW, Elbracht M, Eggermann T, Turner CL, Temple IK, Mackay DJ, Dubbs H, Stevenson DA, Slattery L, Zackai EH, Spinner NB, Krantz ID, Conlin LK: Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure. Genet Med doi: 10.1038/gim.2015.103 [Epub ahead of print]. Aug 2015.

Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A; DDD Study, Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalsheuer V, Mehta SG, Katsanis N, Kleefstra T: Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling. Am J Hum Genet 97(2): 343-52, Aug 2015.

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. Bio Psychiatry 78(2): 135-43, July 2015.

Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, Liu Y, Cochran M, Abbott MA, Atkin J, Babovic-Vuksanovic D, Barnett CP, Crenshaw M, Bartholomew DW, Basel L, Bellus G, Ben-Shachar S, Bialer MG, Bick D, Blumberg B, Cortes F, David KL, Destree A, Duat-Rodriguez A, Earl D, Escobar L, Eswara M, Ezquieta B, Frayling IM, Frydman M, Gardner K, Gripp KW, Hernandez-Chico C, Heyrman K, Ibrahim J, Janssens S, Keena BA, Llano-Rivas I, Leppig K, McDonald M, Misra VK, Mulbury J, Narayanan V, Orenstein N, Galvin-Parton P, Pedro H, Pivnick EK, Powell CM, Randolph L, Raskin S, Rosell J, Rubin K, Seashore M, Schaaf CP, Scheuerle A, Schultz M, Schorry E, Schnur R, Siqveland E, Claes K, Korf B, Martin Y, Legius E, Messiaen L: High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affected p.Arg1809: Genotype-phenotype correlation. Hum Mutat doi: 10.1002/humu.22832 [Epub ahead of print] Jul 2015.

Luo M, Mulchandani S, Dubbs HA, Swarr D, Pyle L, Zackai EH, Spinner NB, Conlin LK: Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies. Am J Med Genet A doi: 10.1002/ajmg.a.37261 [Epub ahead of print] Jul 2015.

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.

Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G, Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, Marangi G, Garavelli L, Zollino M, Zackai EH: "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. 164:2557-2566, 2014. Am J Med Genet A 167(7): 1682-3, Jul 2015.

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Last updated: 09/09/2015
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