Elaine H. Zackai, MD
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
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
Fax: 215-590-3298
Lab: NA
Email:
zackai@email.chop.edu
zackai@email.chop.edu
Education:
B.A. (biology)
New York University, 1964.
M.D. (medicine)
New York University, 1968.
Permanent linkB.A. (biology)
New York University, 1964.
M.D. (medicine)
New York University, 1968.
Selected Publications
Izumi K., Brooks SS., Feret FA., Zackai EH : 1.9Mb Microdeletion of 21q22.11 within Braddock-Carey Contiguous Gene Deletion Syndrome Region: Dissecting the Phenotype. Am J Med Genet 158A(7): 1535-1541, 2012.Haldeman-Englert CR, Biser A, Zackai EH, Ming JE: Revision of “A 223-kb de novo deletion of PAX9 in a patient with oligodontia”. J Craniofac Surg 23(2): e149-151, 2012.
Izumi K, Conlin LK, Berrodin D, Fincher C, Wilkens A , Haldeman-Englert C, Saitta SC, Spinner NB, Krantz ID : Duplication 12p and Pallister-Killian Syndrome: A Case Report and Review of the Literature Towards Defining a Pallister-Killian Syndrome Minimal Critical Region. Submitted, Am J Med Genet. 2012.
Habel A, McGinn MJ 2nd, Zackai EH, Unanue N, McDonald-McGinn DM: Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children. Am J Med Genet A (epub ahead of print). 2012.
Sparrow DB, Chapman G, Smith AJ, Mattar MZ, Major JA, O’Reilly VC, Saga Y, Zackai EH, Dormans JP, Alman BA, McGregor L, Kageyama R, Kusumi K, Dunwoodie SL ( : A mechanism for gene-environment interaction in the etiology of congenital soliosis. Cell 149: 295-306, 2012.
Izumi K, Santani AB, Deardorff MA, Feret HA, Tischler T, Thiel BD, Mulchandani S, Stolle CA, Spinner NB, Zackai EH, Conlin LK : Mosaic Maternal Uniparental Disomy of Chromosome 15 in Prader-Willi syndrome: Utility of Single Nucleotide Polymorphism Genome Wide Array. Submitted, Eur J Hum Genet. 2012.
Conlin LK, Kaur M, Izumi K, Close L, Wilkens A, Clark D, Deardorff MA, Zackai EH, Pallister P, Hakonarson H, Spinner NB, Krantz ID : Utility of SNP Arrays in Detecting, Quantifying, and Determining Meiotic Origin of Tetrasomy 12p in Blood from Individuals with Pallister-Killian Syndrome. S. Submitted, Am J Med Genet. 2012.
Longoni M, Lage K, Russell MK, Loscertales M, Adbul-Rahman OA, Baynam G, Bleyl SB, Brady PD, Breckpot J, Chen CP, Devriendt K, Gillessen-Kaesbach G, Grix AW, Rope AF, Shimokawa O, Strauss B, Wieczorek D, Zackai EH, Coletti CM, Maalouf FI, Noonan KM, Park JH, Tracy AA, Lee C, Donahoe PK, Pober BR: Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks. American Journal of Medical Genetics Part A 2012.
Kim DS, Stanaway IB, Rajagopalan R, Bernbaum JC, Solot CB, Burnham N, Zackai EH, Clancy RR, Nicolson SC, Gerdes M, Nickerson DA, Hakonarson H, Gaynor JW, Jarvik GP: Results of genome-wide analyses on neurodevelopmental phenotypes at four-year follow-up following cardiac surgery in infancy. PLoS One 2012.
Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou Jw, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ : Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet 155A(7): 1511-1516, 2011.