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Elaine H. Zackai, MD
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Professor of Pediatrics (Human Genetics) at the Children's Hospital of Philadelphia
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Department: Pediatrics
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Contact information
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Division of Genetic and Genomic Medicine
2b Children's Hospital of Philadelphia
23 3401 Civic Center Boulevard
50 12 Hub for Clinical Collaboration, Room 12527
Philadelphia, PA 19104
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2b Children's Hospital of Philadelphia
23 3401 Civic Center Boulevard
50 12 Hub for Clinical Collaboration, Room 12527
Philadelphia, PA 19104
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Office: 215-590-2920
32 Fax: 215-590-3298
28 Lab: NA
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32 Fax: 215-590-3298
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Email:
zackai@chop.edu
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zackai@chop.edu
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Education:
21 9 B.A. 14 (biology) c
2c New York University, 1964.
21 9 M.D. 15 (medicine) c
2c New York University, 1968.
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Permanent link21 9 B.A. 14 (biology) c
2c New York University, 1964.
21 9 M.D. 15 (medicine) c
2c New York University, 1968.
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3b1 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.
183 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.
255 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.
3e9 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.
16e 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.
116 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.
128 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.
1cd 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.
1f0 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.
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Selected Publications
12d 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 2026.3b1 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.
183 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.
255 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.
3e9 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.
16e 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.
116 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.
128 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.
1cd 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.
1f0 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.
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