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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

Swarr DT, Khalek N, Treat J, Horton MA, Mirzaa GM, Riviere JB, Dobyns, Zackai EH : Expanding the differential diagnosis of fetal hydropsian unusual prenatal presentation of megaloencephaly- capillary malformation syndrome. Prenat Diagn doi: 10.1002/pd.4178[Epub ahead of print] Jun 2013.

Reinstein E, Frentz S, Morgan T, Garcia-Minaur S, Leventer FJ, McGillivray G, Pariani M, van der Steen A, Pope M, Holder-Espinasse M, Soctt R, Thompson EM, Robertson T, Coppin B, Siegel R, Zurita MB, Rodriguez JI, Morales C, Rodrigues Y, Arcas J, Saggar A, Horton M, Zackai E, Graham JM, Rimoin DL, Robertson SP : Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A. Eur J Hum Genet 21(5): 494-502, May 2013.

Akizu N, Shembesh NM, Ben-Omran T, Bastaki L, Al-Tawari A, Zaki MS, Koul R, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, da Gente G, Li J, Deardorff MA, Conlin LK, Horton MA, Zackai EH, Sherr EH, Gleeson JG. : Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. Am J Hum Genet. 92(3): 392-400, Mar 2013.

Murray B, Wagle R, Amat-Alarcon N, Wilkens A, Stephens P, Zackai EH, Goldmuntz E, Calkins H, Deardorff MA*, Judge DP*. : A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome. Am J Med Genet A. 161A(2): 371-9, Feb 2013 Notes: *corresponding author.

McDonald-McGinn DM, Fahiminiya S, Revil T, Nowakowska BA, Suhl J, Bailey A, Mlynarksi E, Lynch DR, Yan AC, Bilaniuk LT, Sullivan KE, Warren ST, Emanuel BS, Vermeesch JR, Zackai EH, Jerome-Majewsaka LA : Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. J Med. Genet 50(29): 80-90, Feb 2013.

Kalish JM, Conlin LK, Bhatti TR, Dubbs HA, Harris MC, Izumi K, Mostoufi-Moab S, Mulchandani S, Saitta S, States LJ, Swarr DT, Wilkens AB, zackai EH, Zelley K, Bartolomei MS, Nichols KE, Palladino AA, Spinner NB, Deardorff MA.: Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy. Am J Med Genet A 2013 doi: 10.1002/ajmg.a.36045. [Epub ahead of print] PMID: 23804593(June 26), 2013.

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. Am J Med Genet 161A(1): 166-171, Dec 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. Am J Med Genet. 158A(12): 3046-3053, Nov 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. Am J Med Genet. 158A(12): 3033-3045, Nov 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 158A(11): 2665-2671, Nov 2012.

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Last updated: 09/24/2013
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