Elaine H. Zackai

ScholarGPS® ID: 33269880530424

Highly Ranked Scholar - Lifetime:

Chromosomal deletion syndrome

#25

Medical genetics

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Affiliation

Children's Hospital of Philadelphia

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Metrics Summary

Publication Count

644

Predicted Citations

41,965

Predicted h-index

105

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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A case-control study of bleeding risk in children with 22q11.2 deletion syndrome undergoing cardiac surgery (journal article) Crowley, T. Blaine \| Campbell, Ian \| Arulselvan, Abinaya \| Friedman, David \| Zackai, Elaine H. \| Geoffrion, Tracy R. \| Witmer, Char \| Gaynor, J. William \| McDonald-McGinn, Donna M. \| Lambert, Michele P. Platelets, volume 35, issue 1 (2024). 10.1080/09537104.2023.2290108 Cite \| Source
Enlarged cavum septum pellucidum and small thymus as markers for 22q11.2 deletion syndrome (journal article) Gaiser, Kimberly B. \| Schindewolf, Erica M. \| Conway, Laura J. \| Coleman, Beverly G. \| Oliver, Edward R. \| Rychik, Jack R. \| Debari, Suzanne E. \| Mcdonald‐Mcginn, Donna M. \| Zackai, Elaine H. \| Moldenhauer, Julie S. \| Gebb, Juliana S. Prenatal Diagnosis, volume 44, issue 6-7, pages 796-803 (2024). 10.1002/pd.6555 Cited by (1) \| Cite \| Source
Remote assessment of the Penn computerised neurocognitive battery in individuals with 22q11.2 deletion syndrome (journal article) White, L. K. \| Hillman, N. \| Ruparel, K. \| Moore, T. M. \| Gallagher, R. S. \| McClellan, E. J. \| Roalf, D. R. \| Scott, J. C. \| Calkins, M. E. \| McGinn, D. E. \| ... \| Gur, R. C. Journal of Intellectual Disability Research, volume 68, issue 4, pages 369-376 (2024). 10.1111/jir.13115 Cited by (1) \| Cite \| Source
Subdural Hemorrhage as an Early Presentation in a Case of Sotos Syndrome (journal article) Nomakuchi, Tomoki T. \| Alves, Cesar Augusto P. \| Beslow, Lauren A. \| Zarnow, Deborah \| Goyal, Neera \| Zackai, Elaine H. \| Reynoso Santos, Francis Jeshira Neuropediatrics, volume 55, issue 01, pages 071-074 (2024). 10.1055/a-2052-8750 Cite \| Source
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B , microdeletions (journal article) Verscaj, Courtney P. \| Velez‐Bartolomei, Frances \| Bodle, Ethan \| Chan, Katie \| Lyons, Michael J. \| Thorson, Willa \| Tan, Wen‐Hann \| Rodig, Nancy \| Graham, John M. \| Peron, Angela \| ... \| Matalon, Dena R. Prenatal Diagnosis, volume 44, issue 2, pages 237-246 (2024). 10.1002/pd.6424 Cited by (2) \| Cite \| Source
P386: Agenesis of olfactory apparatus due to intragenic deletion of SIN3A and MAN2C1 resulting in Witteveen-Kolk syndrome (journal article) Donoghue, Sarah \| Skraban, Cara \| Squicciarini, Jake \| Wang, Jing \| Rippert, Alyssa \| McDonald-McGinn, Donna \| Zackai, Elaine Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101280 Cite \| Source
P217: Abnormalities of TBX1 result in broad overlapping features of 22q11.2 deletion syndrome (journal article) McDonald-McGinn, Donna \| Giunta, Victoria \| Crowley, T. Blaine \| McGinn, Daniel \| Rockart, Lydia \| Green, Audrey \| Emanuel, Beverly \| Smith, Rosemarie \| Moran, Ellen \| Geremek, Maciej \| ... \| Nowakowska, Beata Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101114 Cite \| Source
The Dysmorphic Infant (book chapter) In Avery's Diseases of the Newborn Taylor Wild, K. \| Sheppard, Sarah E. \| Zackai, Elaine H. Elsevier (2024) 10.1016/B978-0-323-82823-9.00027-1 Cite \| Source
Chromosome Disorders (book chapter) In Avery's Diseases of the Newborn Senaratne, T. Niroshi \| Zackai, Elaine H. \| Saitta, Sulagna C. Elsevier (2024) 10.1016/B978-0-323-82823-9.00028-3 Cite \| Source
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA (journal article) Nriagu, Bede N. \| Williams, Lydia S. \| Brewer, Niambi \| Surrey, Lea F. \| Srinivasan, Abhay S. \| Li, Dong \| Britt, Allison \| Treat, James \| Crowley, T. Blaine \| O'Connor, Nora \| ... \| Sheppard, Sarah E. American Journal of Medical Genetics Part A, volume 194, issue 1, pages 64-69 (2024). 10.1002/ajmg.a.63385 Cite \| Source
Psychosis spectrum features, neurocognition and functioning in a longitudinal study of youth with 22q11.2 deletion syndrome (journal article) Gur, Raquel E. \| McDonald-McGinn, Donna M. \| Moore, Tyler M. \| Gallagher, R. Sean \| McClellan, Emily \| White, Lauren \| Ruparel, Kosha \| Hillman, Noah \| Crowley, T. Blaine \| McGinn, Daniel E. \| ... \| Gur, Ruben C. Psychological Medicine, volume 53, issue 14, pages 6763-6772 (2023). 10.1017/S0033291723000259 Cited by (2) \| Cite \| Source
Anesthesia and Sedation Exposure and Neurodevelopmental Outcomes in Infants Undergoing Congenital Cardiac Surgery: A Retrospective Cohort Study (journal article) Simpao, Allan F. \| Randazzo, Isabel R. \| Chittams, Jesse L. \| Burnham, Nancy \| Gerdes, Marsha \| Bernbaum, Judith C. \| Walker, Tia \| Imsdahl, Solveig \| DeWitt, Aaron G. \| Zackai, Elaine H. \| ... \| Loepke, Andreas W. Anesthesiology, volume 139, issue 4, pages 393-404 (2023). 10.1097/ALN.0000000000004684 Cited by (10) \| Cite \| Source
TOPORS as a novel causal gene for Joubert syndrome (journal article) Strong, Alanna \| Qu, Hui‐Qi \| Cullina, Sinéad \| McManus, Morgan L. \| Zackai, Elaine H. \| Glessner, Joseph \| Kenny, Eimear E. \| Hakonarson, Hakon American Journal of Medical Genetics Part A, volume 191, issue 8, pages 2156-2163 (2023). 10.1002/ajmg.a.63303 Cited by (1) \| Cite \| Source
Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications (journal article) Bhattarai, Dharmagat \| McGinn, Daniel E. \| Crowley, T. Blaine \| Giunta, Victoria \| Gaiser, Kimberly \| Zackai, Elaine H. \| Emanuel, Beverly S. \| Heimall, Jennifer \| Jyonouchi, Soma \| Lee, Juhee \| ... \| Sullivan, Kathleen E. Journal of Clinical Immunology, volume 43, issue 4, pages 794-807 (2023). 10.1007/s10875-023-01443-5 Cited by (4) \| Cite \| Source
Expanding the reproductive organ phenotype of CHD7 ‐spectrum disorder (journal article) Nomakuchi, Tomoki T. \| Danowitz, Melinda \| Stewart, Blythe \| Leonard, Jacqueline \| Izumi, Kosuke \| Krantz, Ian \| Kolon, Thomas F. \| Langdon, David \| Skraban, Cara \| Van Batavia, Jason \| ... \| Pyle, Louise C. American Journal of Medical Genetics Part A, volume 191, issue 5, pages 1418-1424 (2023). 10.1002/ajmg.a.63148 Cited by (1) \| Cite \| Source
Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome (journal article) Matalon, Dena R. \| Bhoj, Elizabeth J. \| Li, Dong \| McDougall, Carey \| Schindewolf, Erica \| Khalek, Nahla \| Wilkens, Alisha \| McManus, Morgan \| Deardorff, Matthew A. \| Zackai, Elaine H. American Journal of Medical Genetics Part A, volume 191, issue 4, pages 977-982 (2023). 10.1002/ajmg.a.63105 Cited by (1) \| Cite \| Source
Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression (journal article) Campbell, Ian M. \| Crowley, T. Blaine \| Jobaliya, Chintan \| Bailey, Alice \| McGinn, Daniel E. \| Gaiser, Kimberly \| Bassett, Anne \| Gur, Raquel E. \| Morrow, Bernice \| Emanuel, Beverly S. \| ... \| Lambert, Michele P. Clinical Genetics, volume 103, issue 1, pages 109-113 (2023). 10.1111/cge.14227 Cited by (2) \| Cite \| Source
O43: Characterization of the prenatal renal phenotype associated with 17q12/HNF1B microdeletions (journal article) Verscaj, Courtney \| Velez-Bartolomei, Frances \| Bodle, Ethan \| Chan, Katie \| Lyons, Michael \| Thorson, Willa \| Tan, Wen-Hann \| Graham, John \| Peron, Angela \| Quintero-Rivera, Fabiola \| ... \| Matalon, Dena Genetics in Medicine Open, volume 1, issue 1, pages 100650- (2023). 10.1016/j.gimo.2023.100650 Cite \| Source
P249: Phenotypic findings associated with nested 22q11.2 deletions* (journal article) McGinn, Daniel \| Giunta, Victoria \| Wang, Bekah \| Lairson, Lauren \| Green, Audrey \| Olt, Daniela \| Zackai, Elaine \| Tran, Oanh \| Emanuel, Beverly \| Crowley, Terrence \| McDonald-McGinn, Donna Genetics in Medicine Open, volume 1, issue 1, pages 100277- (2023). 10.1016/j.gimo.2023.100277 Cite \| Source
P248: Is 22q11.2 deletion syndrome truly less common in Black patients? (journal article) McDonald-McGinn, Donna \| Crowley, Terrence \| McGinn, Daniel \| Gaiser, Kimberly \| Giunta, Victoria \| Lairson, Lauren \| Zackai, Elaine \| Tran, Oanh \| Share, Matt \| Valverde, Kathleen \| ... \| Emanuel, Beverly Genetics in Medicine Open, volume 1, issue 1, pages 100276- (2023). 10.1016/j.gimo.2023.100276 Cite \| Source

Title	Investigators	Year	Cost	Agency
CASE CONTROL SURVEILLANCE FOR BIRTH DEFECTS IN RELATION TO ENVIRONMENT	Zackai, Elaine H	2005	$2,838	NATIONAL CENTER FOR RESEARCH RESOURCES
Case control surveillance for birth defects in relation to environment	Zackai, Elaine H	2004	$1,809	NATIONAL CENTER FOR RESEARCH RESOURCES
CORE--CLINICAL	Zackai, Elaine	2002	$211,315	NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS
SURVEILLANCE FOR BIRTH DEFECTS	Zackai, Elaine H	2002	$0	NATIONAL CENTER FOR RESEARCH RESOURCES
CORE--CLINICAL	Zackai, Elaine	2002	$211,315	NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS
CORE--CLINICAL	Zackai, Elaine	2001	$211,315	NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS
CORE--CLINICAL	Zackai, Elaine	2000	$211,315	NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS
CORE--CLINICAL	Zackai, Elaine	2000	$211,315	NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS
SURVEILLANCE FOR BIRTH DEFECTS	Zackai, Elaine H	2000	$0	NATIONAL CENTER FOR RESEARCH RESOURCES
CORE--CLINICAL	Zackai, Elaine	1999	$10,000	NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS
CORE--CLINICAL	Zackai, Elaine	1998	$198,774	NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS
CORE--CLINICAL	Zackai, Elaine	1997	$194,588	NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS