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
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.Schwartz CE, Aylsworth AS, Allanson J, Battaglia A, Carey JC, Curry CJ, Davies KE, Eichler EE, Graham JM Jr, Hall B, Hall JG, Holmes LB, Hoyme HE, Hunter A, Innis J, Johnson J, Keppler-Noreuil KM, Leroy JG, Moore C, Nelson DL, Neri G, Opitz JM, Picketts D, Raymond FL, Shalev SA, Stevenson RE, Stumpel CTRM, Sutherland G, Viskochil DH, Weaver DD, Zackai EH: Personal journeys to and in human genetics and dysmorphology. Am J Med Genet A 194(6): e63514, Jun 2024.
Lin AE, Scimone ER, Thom RP, Balaguru D, Kinane TB, Moschovis PP, Cohen MS, Tan W, Hague CD, Dannheim K, Levitsky LL, Lilly E, DiGiacomo DV, Masse KM, Kadzielski SM, Zar-Kessler CA, Ginns LC, Neumeyer AM, Colvin MK, Elder JS, Learn CP, Mou H, Weagle KM, Buch KA, Butler WE, Alhadid K, Musolino PL, Sultana S, Bandyopadhyay D, Rapalino O, Peacock ZS, Chou EL, Heidary G, Dorfman AT, Morris SA, Bergin JD, Rayment JH, Schimmenti LA, Lindsay ME; MGH Myhre Syndrome Study Group.: Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023). Am J Med Genet A e63638: doi:10.1002, May 2024.
Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA; Spina Bifida Sequencing Consortium‡; Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG: Risk of meningomyelocele mediated by the common 22q11.2 deletion. Science 384(6695): 585-590, May 2024.
Gaynor JW, Moldenhauer JS, Zullo EE, Burnham NB, Gerdes M, Bernbaum JC, D'Agostino JA, Linn RL, Klepczynski B, Randazzo I, Gionet G, Choi GH, Karaj A, Russell WW, Zackai EH, Johnson MP, Gebb JS, Soni S, DeBari SE, Szwast AL, Ahrens-Nicklas RC, Drivas TG, Jacobwitz M, Licht DJ, Vossough A, Nicolson SC, Spray TL, Rychik J, Putt ME: Progesterone for Neurodevelopment in Fetuses With Congenital Heart Defects: A Randomized Clinical Trial. JAMA Netw Open 7(5): e2412291, May 2024.
White LK, Hillman N, Ruparel K, Moore TM, Gallagher RS, McClellan EJ, Roalf DR, Scott JC, Calkins ME, McGinn DE, Giunta V, Tran O, Crowley TB, Zackai EH, Emanuel BS, McDonald-McGinn DM, Gur RE, Gur RC: Remote assessment of the Penn computerised neurocognitive battery in individuals with 22q11.2 deletion syndrome. J Intellect Disabil Res 68(4): 369-376, Apr 2024.
Wild KT, Conlin L, Blair J, Manfredi M, Hamilton TE, Muir A, Zackai EH, Nace G, Partridge EA, Devine M, Reynolds T, Rintoul NE, Hedrick HL, Spinner N, Krantz ID: Genomic Contributors to Esophageal Atresia and Tracheoesophageal Fistula: A 12 Year Retrospective Review. J Pediatr 271: 114060, Apr 2024.
Gaiser KB, Schindewolf EM, Conway LJ, Coleman BG, Oliver ER, Rychik JR, Debari SE, Mcdonald-Mcginn DM, Zackai EH, Moldenhauer JS, Gebb JS: Enlarged cavum septum pellucidum and small thymus as markers for 22q11.2 deletion syndrome. Prenat Diagn Page: doi:10.1002/pd6555, Mar 2024.
Freud LR, Galloway S, Crowley TB, Moldenhauer J, Swillen A, Breckpot J, Borrell A, Vora NL, Cuneo B, Hoffman H, Gilbert L, Nowakowska B, Geremek M, Kutkowska-Kaźmierczak A, Vermeesch JR, Devriendt K, Busa T, Sigaudy S, Vigneswaran T, Simpson JM, Dungan J, Gotteiner N, Gloning KP, Digilio MC, Unolt M, Putotto C, Marino B, Repetto G, Fadic M, Garcia-Minaur S, Achón Buil A, Thomas MA, Fruitman D, Beecroft T, Hui PW, Oskarsdottir S, Bradshaw R, Criebaum A, Norton ME, Lee T, Geiger M, Dunnington L, Isaac J, Wilkins-Haug L, Hunter L, Izzi C, Toscano M, Ghi T, McGlynn J, Romana Grati F, Emanuel BS, Gaiser K, Gaynor JW, Goldmuntz E, McGinn DE, Schindewolf E, Tran O, Zackai EH, Yan Q, Bassett AS, Wapner R, McDonald-McGinn DM: Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age. Am J Obstet Gynecol 230(3): 368.e-1-368. Mar 2024.
Verscaj CP, Velez-Bartolomei F, Bodle E, Chan K, Lyons MJ, Thorson W, Tan WH, Rodig N, Graham JM Jr, Peron A, Quintero-Rivera F, Zackai EH, Thomas MA, Stevens CA, Adam MP, Bird LM, Jones MC, Matalon DR: Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions. Prenat Diagn 44(2): 237-246, Feb 2024.