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ELAINE ZACKAI, M.D.
M.D.
NPI: 1811904881Individual
Specialties, Licenses & Credentials
Clinical Cytogenetics Physician
Medical Genetics — Clinical Cytogenetics
Code: 207SC0300X
MD014103E(PA)25MA07256800(NJ)
Clinical Genetics (M.D.) PhysicianPrimary
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
MD014103E(PA)25MA07256800(NJ)
Pediatrics Physician
Pediatrics
Code: 208000000X
MD014103E(PA)25MA07256800(NJ)
Research & Publications (20)
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
PMID 14722918·Hum Mutat·2004
4-observational
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.
PMID 19592680·Genome Res·2009
8-other
Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome.
PMID 18770859·Birth Defects Res A Clin Mol Teratol·2009
8-other
Apolipoprotein E genotype modifies the risk of behavior problems after infant cardiac surgery.
PMID 19564306·Pediatrics·2009
8-other
A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome.
PMID 19610101·Am J Med Genet A·2009
5-case
Aortic root dilation in patients with 22q11.2 deletion syndrome.
PMID 19353635·Am J Med Genet A·2009
8-other
Developmental anomalies with features of disorganization (Ds) and amniotic band sequence (ABS): A report of four cases.
PMID 19606475·Am J Med Genet A·2009
5-case
CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.
PMID 19403480·Pediatrics·2009
4-observational
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
PMID 19346217·J Med Genet·2009
8-other
Affective disorders and other psychiatric diagnoses in children and adolescents with 22q11.2 Deletion Syndrome.
PMID 19269692·J Affect Disord·2009
8-other
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.
PMID 19193630·Hum Mol Genet·2009
8-other
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
PMID 19500772·Am J Hum Genet·2009
8-other
Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.
PMID 19606488·Am J Med Genet A·2009
8-other
Predictors of impaired neurodevelopmental outcomes at one year of age after infant cardiac surgery.
PMID 19394849·Eur J Cardiothorac Surg·2009
8-other
Alterations in midline cortical thickness and gyrification patterns mapped in children with 22q11.2 deletions.
PMID 18483006·Cereb Cortex·2009
8-other
The changing epidemiologic spectrum of single-suture synostoses.
PMID 18626371·Plast Reconstr Surg·2008
8-other
Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.
PMID 18811697·Clin Genet·2008
5-case
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
PMID 18950740·Am J Hum Genet·2008
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 3401 CIVIC CENTER BLVD
PHILADELPHIA, PA 19104 - Phone
- (215) 590-2920
Quick Facts
- NPI
- 1811904881
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 6
- Locations
- 1
- Publications
- 20
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