Elaine H. Zackai, MD

faculty photo
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
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.
Permanent link
 
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Selected Publications

Li D, Matsuoka LS, Donoghue S, Hou C, Strong A, McDonald-McGinn DM, Whitaker L, Taylor J, Bhoj EJ, Hakonarson H, Zackai EH: Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome. Eur J Hum Genet Page: doi: 10.1038/s41431-025-01887-w, Jun 2025.

Clarke TL, Cho HM, Ceppi I, Gao B, Yadav T, Silveira GG, Boon R, Martinez-Pastor B, Amoh NYA, Machin B, Bernasocchi T, Ashfaq D, Mendez J, Kamaliyan Z, Del Río Pantoja J, Rogines GS, Crowley BT, McGinn DE, Giunta V, Tran O, Zackai EH, Lan L, Zou L, Emanuel BS, McDonald-McGinn DM, Cejka P, Mostoslavsky R: ZNF280A links DNA double-strand break repair to human 22q11.2 distal deletion syndrome. Nat Cell Biol 27(6): 1006-1020, Jun 2025.

Wenger TL, Wild KT, Zaniletti I, Zackai EH, Lioy J, Resnick CM, Chaudhari BP, Rottgers SA, Goldstein J, Vyas R, Ahmad I, Coghill CH 3rd, Gogcu S, Lai KC, Cielo CM, Padula MA; Children's Hospitals Neonatal Consortium Micrognathia Focus Group : Management and Outcomes of Neonates with Treacher Collins and Nager Syndromes. J Pediatr 283: 114614, Apr 2025.

Roalf D, Atkins A, Czernuszenko A, Pecsok MK, McDonald-McGinn DM, Schmitt JE, Roeske MJ, Hopkins S, Freedman P, Alexander-Bloch A, Schabdach J, Jung B, Crowley TB, Gallagher RS, McGinn DE, Moberg PJ, Ruparel K, Shinohara RT, Turetsky BI, White L, Zackai EH, Gur RC, Gur RE : Presence, severity, and functional associations of incomplete hippocampal inversion in 22q11.2 deletion syndrome. Biol Psychiatry Cogn Neurosci Neuroimaging S2451, Apr 2025.

Arganbright J, Crowley TB, Tracy M, Noel-MacDonnell J, Gaiser K, Yaktine L, Moore A, Hamm J, Morrow B, Song H, Giunta V, McGinn DE, Zackai EH, Emanuel B, Elden L, Narayanan S, Raje N, McDonald-McGinn DM : Hearing Loss in Children with 22q11.2 Deletion Syndrome. Laryngoscope 135(2): 929-934, Feb 2025.

Souders MC, McDonald-McGinn DM, Ruparel K, Moore TM, Tang SX, Calkins ME, Zackai EH, Gur RC, Emanuel BS, Gur RE : Sleep difficulties related to psychopathology and neurocognition in people with 22q11.2 deletion syndrome. Psychiatry Res 344: 116336, Feb 2025.

Iwata-Otsubo A, Rippert AL, Balciuniene J, Fiordaliso SK, Chen R, Markose P, Skraban CM, Gray C, Zackai EH, Dubbs HA, Deardorff MA, Conlin LK, Izumi K : 16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome. Genes 16(2): 136, Jan 2025.

Nomakuchi TT, Teferedegn EY, Li D, Muirhead KJ, Dubbs H, Leonard J, Muraresku C, Sergio E, Arnold K, Pizzino A, Skraban CM, Zackai EH, Wang K, Ganetzky RD, Vanderver AL, Ahrens-Nicklas RC, Bhoj EJK : Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes. Am J Med Genet A 194(12): e63817, Dec 2024.

Crowley TB, Campbell I, Arulselvan A, Friedman D, Zackai EH, Geoffrion TR, Witmer C, Gaynor JW, McDonald-McGinn DM, Lambert MP: A case-control study of bleeding risk in children with 22q11.2 deletion syndrome undergoing cardiac surgery. Platelets 35(1): 2290108, Dec 2024.

Nisbet AF, Viswanathan A, George AM, Arias P, Klein SD, Nevado J, Parra A, Pascual P, Romeo DJ, Tenorio-Castaño J, Taylor JA, Zackai EH, Lapunzina P, Kalish JM : Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review. Am J Med Genet A 194(12), Dec 2024.

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Last updated: 07/03/2025
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