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ELLEN GOLDMUNTZ, MD
MD
Pediatric Rheumatology Physician
NPI: 1902975949Individual
Specialties, Licenses & Credentials
Pediatric Rheumatology PhysicianPrimary
Pediatrics — Pediatric Rheumatology
Code: 2080P0216X
MD17652(DC)
Research & Publications (20)
Images in cardiovascular medicine. Partial anomalous left pulmonary artery.
PMID 19414658·Circulation·2009
5-case
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
Aortic root dilation in patients with 22q11.2 deletion syndrome.
PMID 19353635·Am J Med Genet A·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
Serum alkaline phosphatase reflects post-Fontan hemodynamics in children.
PMID 18685798·Pediatr Cardiol·2009
5-case
Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.
PMID 18580689·Genet Med·2008
6-review
Late effects in survivors of tandem peripheral blood stem cell transplant for high-risk neuroblastoma.
PMID 18623215·Pediatr Blood Cancer·2008
8-other
Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.
PMID 18538293·Am J Hum Genet·2008
7-preclinical
GATA4 sequence variants in patients with congenital heart disease.
PMID 18055909·J Med Genet·2007
8-other
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
PMID 17924340·Am J Hum Genet·2007
7-preclinical
Spectrum of heart disease associated with murine and human GATA4 mutation.
PMID 17643447·J Mol Cell Cardiol·2007
7-preclinical
Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.
PMID 17519398·Circulation·2007
6-review
The cardiovascular manifestations of Alagille syndrome and JAGI mutations.
PMID 16930015·Methods Mol Med·2006
8-other
The 22q11.2 deletion in African-American patients: an underdiagnosed population?
PMID 15754359·Am J Med Genet A·2005
4-observational
Cardiac magnetic resonance imaging for accurate diagnosis of aortic arch anomalies in patients with 22q11.2 deletion.
PMID 16360365·Am J Cardiol·2005
4-observational
Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study.
PMID 15937089·J Med Genet·2005
8-other
Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA).
PMID 15890066·BMC Med Genet·2005
8-other
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.
PMID 15371594·Proc Natl Acad Sci U S A·2004
4-observational
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 111 MICHIGAN AVE NW
WASHINGTON, DC 20010 - Phone
- (202) 884-3440
Quick Facts
- NPI
- 1902975949
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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