Elaine H. Zackai - Concepedia

Author

Elaine H. Zackai

Children's Hospital of Philadelphia ORCID

Also Known As

Armando, Marco, Azizi, Amedeo A., Beverly S. Emanuel, Blazo, Maria A., Charles Williams, Daniel E. McGinn, David Chitayat, Devriendt, Koen, Donna Mcdonald-Mcginn, E H Zackai

1.1K

Publications

49.3K

Citations

112

H-Index

321

Concepts

All Affiliations

Children's Hospital of Philadelphia University of Pennsylvania Boston Children's Hospital Philadelphia University University of Washington

About

Elaine H. Zackai is an author at Children's Hospital of Philadelphia specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Health Sciences	15	15	1.2K
2	Education	8	8	556
3	Arts	6	6	561
4	Engineering	1	1	92
5	Humanities	1	1	18

Elaine H. Zackai

481

Publications

41.8K

Citations

108

H-Index

Page 1

	Year	Citations
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes Shinji Kondo, Brian C. Schutte, Rebecca J. Richardson, Nature Genetics Developmental AnomalyPopliteal Pterygium SyndromesMendelian DisorderGenetic DisorderGenetics	2002	891
A Mosaic Activating Mutation in <i>AKT1</i> Associated with the Proteus Syndrome Marjorie J. Lindhurst, Julie C. Sapp, Jamie K. Teer, New England Journal of Medicine	2011	872
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper, Nature Genetics Developmental BiologyTwo-hit ModelGeneticsDevelopmental ScienceGlobal Developmental Delay	2010	669
PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome Deborah J. Marsh, Jennifer B. Kum, Kathryn L. Lunetta, Human Molecular Genetics Genotype-phenotype CorrelationsMendelian DisorderMalignant DiseaseGenetic DisorderGenetics	1999	605
Frequency of 22q11 deletions in patients with conotruncal defects Elizabeth Goldmuntz, Bernard J. Clark, Laura E. Mitchell, Journal of the American College of Cardiology	1998	587
Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations Paweł Stankiewicz, Partha Sen, Samarth Bhatt, The American Journal of Human Genetics	2009	513
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis Laura K. Conlin, Brian Thiel, Carsten G. Bönnemann, Human Molecular Genetics CytogeneticsGeneticsHuman PolymorphismMolecular GeneticsEmbryology	2010	496
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. Deborah A. Driscoll, J Salvin, Beatrice Sellinger, Journal of Medical Genetics GeneticsGenetic EpidemiologyGynecologyPathologyCongenital Heart Anomaly	1993	488
The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Donna M. McDonald‐McGinn, Richard E. Kirschner, Elizabeth Goldmuntz, PubMed GeneticsGenetic EpidemiologyPathologyCongenital Heart AnomalyChromosome 22Q11.2	1999	441
Growth Charts for Children With Down Syndrome: 1 Month to 18 Years of Age Christine E. Cronk, Allen C. Crocker, Siegfried M. Pueschel, PEDIATRICS Down SyndromeObesityChildhood ObesityBody CompositionGrowth Charts	1988	432

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