Elaine H. Zackai, MD
Professor of Pediatrics (Human Genetics) at the Children's Hospital of Philadelphia
Department: Pediatrics
Contact information
Clinical Genetics
Children's Hospital of Philadelphia
3401 Civic Center Boulevard
12 Hub for Clinical Collaboration, Room 12527
Philadelphia, PA 19104
Children's Hospital of Philadelphia
3401 Civic Center Boulevard
12 Hub for Clinical Collaboration, Room 12527
Philadelphia, PA 19104
Office: 215-590-2920
Fax: 215-590-3298
Lab: NA
Fax: 215-590-3298
Lab: NA
Email:
zackai@chop.edu
zackai@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
Strong A, Qu HQ, Cullina S, McManus ML, Zackai EH, Glessner J, Kenny EE, Hakonarson H: TOPORS as a novel causal gene for Joubert syndrome. Am J Med Genet A Page: doi: 10.1002/ajmg.a.63303. Online ahead of print. May 2023.Nomakuchi TT, Danowitz M, Stewart B, Leonard J, Izumi K, Krantz I, Kolon TF, Langdon D, Skraban C, Van Batavia J, Zackai E, Jiao K, Linn R, Alexander C, Zaontz M, Vogiatzi MG, Pyle LC: Expanding the reproductive organ phenotype of CHD7-spectrum disorder. Am J Med Genet A 191(5): 1418-1424, May 2023.
Tooze RS, Miller KA, Swagemakers SMA, Calpena E, McGowan SJ, Boute O, Collet C, Johnson D, Laffargue F, de Leeuw N, Morton JV, Noons P, Ockeloen CW, Phipps JM, Tan TY, Timberlake AT, Vanlerberghe C, Wall SA, Weber A, Wilson LC, Zackai EH, Mathijssen IMJ, Twigg SRF, Wilkie AOM: Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance. Genet Med Page: doi: 10.1016/j.gim.2023.100883. Online ahead of print. May 2023.
Bhattarai D, McGinn DE, Crowley TB, Giunta V, Gaiser K, Zackai EH, Emanuel BS, Heimall J, Jyonouchi S, Lee J, Sun D, McDonald-McGinn DM, Sullivan KE: Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications. J Clin Immunol 43(4): 794-807, May 2023.
Matalon DR, Bhoj EJ, Li D, McDougall C, Schindewolf E, Khalek N, Wilkens A, McManus M, Deardorff MA, Zackai EH: Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome. Am J Med Genet A 191(4): 977-982, Apr 2023.
Kuroda Y, Iwata-Otsubo A, Dias KR, Temple SEL, Nagao K, De Hayr L, Zhu Y, Isobe SY, Nishibuchi G, Fiordaliso SK, Fujita Y, Rippert AL, Baker SW, Leung ML, Koboldt DC, Harman A, Keena BA, Kazama I, Subramanian GM, Manickam K, Schmalz B, Latsko M, Zackai EH, Edwards M, Evans CA, Dulik MC, Buckley MF, Yamashita T, O'Brien WT, Harvey RJ, Obuse C, Roscioli T, Izumi K: Dominant-negative variants in CBX1 cause a neurodevelopmental disorder. Genet Med Page: doi: 10.1016/j.gim.2023.100861. Online ahead of print. Apr 2023.
Kuroda Y, Iwata-Otsubo A, Dias KR, Temple SEL, Nagao K, De Hayr L, Zhu Y, Isobe SY, Nishibuchi G, Fiordaliso SK, Fujita Y, Rippert AL, Baker SW, Leung ML, Koboldt DC, Harman A, Keena BA, Kazama I, Subramanian GM, Manickam K, Schmalz B, Latsko M, Zackai EH, Edwards M, Evans CA, Dulik MC, Buckley MF, Yamashita T, O'Brien WT, Harvey RJ, Obuse C, Roscioli T, Izumi K: Dominant-negative variants in CBX1 cause a neurodevelopmental disorder. Genet Med Page: doi: 10.1016/j.gim.2023.100861. Online ahead of print. Apr 2023.
Patterson V, Ullah F, Bryant L, Griffin JN, Sidhu A, Saliganan S, Blaile M, Saenz MS, Smith R, Ellingwood S, Grange DK, Hu X, Mireguli M, Luo Y, Shen Y, Mulhern M, Zackai E, Ritter A, Izumi K, Hoefele J, Wagner M, Riedhammer KM, Seitz B, Robin NH, Goodloe D, Mignot C, Keren B, Cox H, Jarvis J, Hempel M, Gibson CF, Tran Mau-Them F, Vitobello A, Bruel AL, Sorlin A, Mehta S, Raymond FL, Gilmore K, Powell BC, Weck K, Li C, Vulto-van Silfhout AT, Giacomini T, Mancardi MM, Accogli A, Salpietro V, Zara F, Vora NL, Davis EE, Burdine R, Bhoj E: Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish. Sci Adv 9(17): eade0631. doi: 10.1126/sciadv.ade0631. Apr 2023.
Nomakuchi TT, Alves CAP, Beslow LA, Zarnow D, Goyal N, Zackai EH, Reynoso Santos FJ: Subdural Hemorrhage as an Early Presentation in a Case of Sotos Syndrome. Neuropediatrics Page: doi: 10.1055/a-2052-8750. Online ahead of print. Apr 2023.
Gur RE, McDonald-McGinn DM, Moore TM, Gallagher RS, McClellan E, White L, Ruparel K, Hillman N, Crowley TB, McGinn DE, Zackai E, Emanuel BS, Calkins ME, Roalf DR, Gur RC: Psychosis spectrum features, neurocognition and functioning in a longitudinal study of youth with 22q11.2 deletion syndrome. Psychol Med Page: doi: 10.1017/S0033291723000259. Online ahead of print. Mar 2023.