Elaine H. Zackai, MD

Professor of Pediatrics (Human Genetics) at the Children's Hospital of Philadelphia

Department: Pediatrics
Division: Human Genetics

Selected Publications

• Nisbet AF, Adams SA, Katz ZS, Delagrammatikas CG, Izumi K, Sigal W, Ventarola K, Zackai EH, Reid JE, Liu GT, Kalish JM. : Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature Am J Med Genet A Apr 2026
• Lin JR, Miller D, Luong D, Nelson T, Crowley TB, Tran OT, Thiruvahindrapuram B, Hajianpour A, Campbell L, Busa T, Heine-Suñer D, García-Miñaúr S, Fernández L, Murphy KC, Murphy D, Hawula W, Angkustsiri K, Shashi V, Schoch K, Bearden CE, Tomita Mitchell A, Mitchell ME, Carmel M, Weizman A, Michaelovsky E, Gothelf D, van den Bree MBM, Owen MJ, Vorstman JAS, Boot E, Vingerhoets C, van Amelsvoort T, Swillen A, Breckpot J, Vermeesch JR, Devriendt K, Schneider M, Eliez S, Digilio MC, Unolt M, Putotto C, Marino B, Pontillo M, Armando M, Vicari S, Repetto GM, Kates WR, Shprintzen RJ, Gur RE, Zackai EH, Goldmuntz E, Wang T, Raj S, Emanuel BS, McDonald-McGinn DM, Scherer SC, Bassett AS, Zhang ZD, Morrow BE. : Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome medRxiv Mar 2026
• Vainstein S, Chan J, March ME, Luo M, Conlin L, Glessner J, Li D, Kao C, Harr M, Menello C, Ahrens-Nicklas R, Rang EB, Zackai EH, Guay Woodford L Wang K, Gold JI, Gold NB, Strong A : Something old, something new: Physical exam and clinical acumen still matter in the genomic era. Submitted, Pediatrics January 2026
• Jung B, Schmitt JE, Seidlitz J, Schabdach JM, Karandikar S, Crowley TB, Dorfschmidt L, Mandal AS, Zimmerman D, Williams RMS, Prem S, Levitis E, Gardner M, Cyr K, Padmanabhan V, Taylor JH, Ruparel K, Boen R, Bearden CE, Ching CRK, Pasaniuc B, Anderson S, McGinn D, Zackai E, Emanuel B, Hopkins S, Chadehumbe M, Low KJ, Cole TJ, Bethlehem RAI, Shinohara RT, Gaynor JW, Roalf DR, Gur RE, McDonald-McGinn DM, Alexander-Bloch A. : Charting Brain Structure in 22q11.2 Deletion Syndrome with Clinical Neuroimaging medRxiv Jan 2026
• Uguen K, Bergot T, Scott-Boyer MP, Chapalain S, Desdouets C, Commet S, Zhu C, Xu Y, Wang Y, Roscioli T, Tran-Mau-Them F, Faivre L, Maraval J, Delanne J, Denommé-Pichon AS, Vitobello A, Jost C, Planes M, Hiatt S, Wheeler P, Gonzaga-Jauregui C, Wang H, Xin B, Sency V, Kruer MC, Bakhtiari S, Sulem P, Curry C, Prescott T, Strobl-Wildemann G, Brunet T, Doco Fenzy M, Courtin T, Poirsier C, Bjørg Hammer T, Fenger CD, MacPherson M, Izumi K, Leonard J, Li D, Zackai EH, Glass IA, Ward S, Campeau PM, Borroto MCH, Le Moigno L, Van Esch H, De Waele L, Calame DG, Lupski JR, Barcia G, Peduto C, Planté-Bordeneuve P, Dupuis L, Mendoza-Londono R, Stavropoulos DJ, Gillibert-Duplantier J, Besnard T, Do Souto Ferreira L, Cogné B, Bézieau S, Droit A, Corcos L, Lippert E, Férec C, Küry S, Bernard DG. : De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders Nat Commun 17 : 1569, Jan 2026
• Borowka J, Crowley TB, Mani A, Guinta V, McGinn DE, Wang B, Green A, Rockart L, Tran O, Emanuel BS, Zackai EH, Dugoff L, Valverde K, McDonald-McGinn DM. : 22q11.2 Deletion Syndrome in Offspring Conceived via Assisted Reproductive Technology Versus Spontaneously Genes (Basel) 17 : 68, Jan 2026
• Crane HM, Giardine R, Strong A, Wild KT, Zackai E, Dugoff L, Sparks TN, Coleman B, Moldenhauer JS. : Prenatally Diagnosed Beare-Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant Prenat Diagn 2026
• Pastor S, Tran O, Lapointe R, Olali AZ, Wallace DC, Morrow B, Zackai EH, McDonald-McGinn DM, Emanuel BS. : Optical mapping in Black genomes: Distinct LCR22 structures and 22q11.2 deletion syndrome mechanisms Genet Med 2026
• Nelson TJ, McGinn DE, Crowley TB, Rockart L, Green A, Giunta V, Tran O, Miller D, Breckpot J, Swillen A, Digilio MC, Unolt M, Putotto C, Pulvirenti F, Marino B, Emanuel BS, Zackai EH, Zhang ZD, Goldmuntz E, Boot E, Bassett AS, Morrow BE, McDonald-McGinn DM. : Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions Clin Genet 2026
• Rots D, De Oliveira BC, Carvalho L, Zhao X, Sadikovic B, Rigobello R, Tedder M, Donoghue S, Maripuri P, Hnizda A, Barr E, Fletcher R, Noskova L, Li D, Kleefstra T, Zackai EH, Barreror M, Krepischi A, Strong A : Biallelic truncating variants in EHMT2 cause a neurodevelopmental syndrome associated with multiple congenital anomalies syndrome and phenotypic and molecular overlap with Kleefstra syndrome 1 Submitted Nov 2025