Elaine Schwartz Zackai, MD

Unless otherwise indicated, this information has been self-reported and has not been verified by the Board of Medicine.

University Of Pennsylvania School Of Medicine - Philadelphia PA
Rank: Full Professor
Years:

University Of Pennsylvania School Of Medicine - Philadelphia PA
Rank: Full Professor
Years: 1972-Present

Children's Hospital of Philadelphia
Rank: Full Professor
Years: 1972-Present

Chromatin Modifications in 22q11.2 Deletion Syndrome.
J Clin Immunol
Volume: 41
Date: 08 2021

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Mol Autism
Volume: 12
Date: 10 2021

Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.
AJMGA
Volume: 185
Date: 12 2021

A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response.
AJMGA
Volume: 188
Date: 02 2022

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Genet Med
Volume: 24
Date: 03 2022

Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients.
AJMGA
Volume: 188
Date: 03 2022

Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?
J Mol Diagn
Volume: 24
Date: 03 2022

Surgical insights and management in patients with the 22q11.2 deletion syndrome.
Pediatr Surg Int
Volume: 38
Date: 06 2022

Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases.
J Pediatr
Volume: 246
Date: 07 2022

Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly.
Eur J Hum Genet
Volume: 30
Date: 09 2022