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Elaine Zackai

From Wikipedia, the free encyclopedia
Prof
Elaine H. Zackai
EducationNew York University College of Arts & Science
Alma materNew York University School of Medicine
Scientific career
FieldsPediatrics, genetics
InstitutionsChildren's Hospital of Philadelphia

Elaine H. Zackai is a Professor of Pediatrics, Director of Clinical Genetics, and the Director of the Clinical Genetics Center at Children's Hospital of Philadelphia (CHOP).

Biography

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She was born in Brooklyn in 1943, to a metallurgist and a high school teacher.[1]

Zackai completed her B.A. at the New York University College of Arts & Science in 1964, followed by her M.D. at New York University School of Medicine in 1968.[2]

She is a member of multiple professional organisations, sits on multiple academic and institutional committees, and holds multiple professorships.[3]

She is also a founding Fellow of the American College of Medical Genetics and Genomics.[1]

Research

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Her research has included genetic factors relating to birth defects, syndromes relating to chromosomal translocation, and 22q gene deletion.[4]

Awards and honours

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Selected publications

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  • 22q11.2 deletion syndrome, Nature Reviews Disease Primers volume 1, Article number: 15071 (2015), doi:10.1038/nrdp.2015.71
  • PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome, Human Molecular Genetics, Volume 8, Issue 8, August 1999, Pages 1461–1472, doi:10.1093/hmg/8.8.1461
  • Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome, 2021, doi:10.1002/ajmg.a.62387

References

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