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
Wood Building, Room 4020
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

Ching CRK, Gutman BA, Sun D, Villalon Reina J, Ragothaman A, Isaev D, Zavaliangos-Petropulu A, Lin A, Jonas RK, Kushan L, Pacheco-Hansen L, Vajdi A, Forsyth JK, Jalbrzikowski M, Bakker G, van Amelsvoort T, Antshel KM, Fremont W, Kates WR, Campbell LE, McCabe KL, Craig MC, Daly E, Gudbrandsen M, Murphy CM, Murphy DG, Murphy KC, Fiksinski A, Koops S, Vorstman J, Crowley TB, Emanuel BS, Gur RE, McDonald-McGinn DM, Roalf DR, Ruparel K, Schmitt JE, Zackai EH, Durdle CA, Goodrich-Hunsaker NJ, Simon TJ, Bassett AS, Butcher NJ, Chow EWC, Vila-Rodriguez F, Cunningham A, Doherty J, Linden DE, Moss H, Owen MJ, van den Bree M, Crossley NA, Repetto GM, Thompson PM, Bearden CE : Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness. Am J Psychiatry 177(7): 589-600, July 2020.

Dou Y, Blaine Crowley T, Gallagher S, Bailey A, McGinn D, Zackai E, Gur RE, McGinn DM, Sullivan KE: Increased T-cell counts in patients with 22q11.2 deletion syndrome who have anxiety. Am J Med Genet A 182(7): 1815-1818, July 2020.

Wenger TL, Bly RA, Wu N, Albert CM, Park J, Shieh J, Chenbhanich J, Heike CL, Adam MP, Chang I, Sun A, Miller DE, Beck AE, Gupta D, Boos MD, Zackai EH, Everman D, Ganapathi S, Wilson M, Christodoulou J, Zarate YA, Curry C, Li D, Guimier A, Amiel J, Hakonarson H, Webster R, Bhoj EJ, Perkins JA, Dahl JP, Dobyns WB : Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. Am J Med Genet A 182(7): 1576-1591, July 2020.

Tian LH, Wiggins LD, Schieve LA, Yeargin-Allsopp M, Dietz P, Aylsworth AS, Elias ER, Hoover-Fong JE, Meeks NJL, Souders MC, Tsai AC, Zackai EH, Alexander AA, Dowling NF, Shapira SK : Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder. Autism Res Page: doi: 10.1002/aur.2314. Online ahead of print. June 2020.

Jackson OA, Kaye AE, Lee A, Minugh-Purvis N, Cohen MA, Solot CB, McDonald-McGinn D, Jawad AF, Zackai EH, Kirschner RE : Orofacial Manifestations of Stickler Syndrome: An Analysis of Speech Outcome and Facial Growth After Cleft Palate Repair. Ann Plast Surg 84(6): 665-671, June 2020.

Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E : A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. Eur J Hum Genet Page: doi: 10.1038/s41431-020-0654-4. Online ahead of print. June 2020.

Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM : Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med Page: doi: 10.1038/s41436-020-0811-8. Online ahead of print. May 2020.

Muir AM, Cohen JL, Sheppard SE, Guttipatti P, Lo TY, Weed N, Doherty D, DeMarzo D, Fagerberg CR, Kjærsgaard L, Larsen MJ, Rump P, Löhner K, Hirsch Y, Zeevi DA, Zackai EH, Bhoj E, Song Y, Mefford HC : Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. Am J Hum Genet 106(5): 623-631, May 2020.

Pritchard A, Kanai SM, Krock B, Schindewolf E, Oliver-Krasinski J, Khalek N, Okashah N, Lambert NA, Tavares ALP, Zackai E, Clouthier DE : Loss-of-Function of endothelin receptor type A results in Oro-Oto-Cardiac syndrome. Am J Med Genet A 182(5): 1104-1116, May 2020.

Strong A, McDougall C, Zackai E : Absent digit in Russell-Silver syndrome: expanding the clinical spectrum of a well known syndrome. Clin Dysmophol 29(2): 118-120, April 2020.

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Last updated: 07/20/2020
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