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RHONDA SCHNUR, MD
MD
Clinical Genetics (M.D.) Physician
NPI: 1023114592IndividualAccepts Medicare
Specialties, Licenses & Credentials
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
MA63463(NJ)
CMS Specialties
PrimaryPEDIATRIC MEDICINE
Additional
MEDICAL GENETICS AND GENOMICS
Education
BAYLOR COLLEGE OF MEDICINE
Class of 1981
Research & Publications (11)
Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.
PMID 19574259·J Med Genet·2010
5-case
hVps15, but not Ca2+/CaM, is required for the activity and regulation of hVps34 in mammalian cells.
PMID 18957027·Biochem J·2009
7-preclinical
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.
PMID 18411254·Hum Mol Genet·2008
8-other
Epimerase-deficiency galactosemia is not a binary condition.
PMID 16385452·Am J Hum Genet·2006
4-observational
Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype.
PMID 16365259·Arch Dermatol·2005
5-case
Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation.
PMID 15159646·J Inherit Metab Dis·2004
5-case
Normal tissue depresses while tumor tissue enhances human T cell responses in vivo to a novel self/tumor melanoma antigen, OA1.
PMID 12538723·J Immunol·2003
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
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Contact & Hours
- Address
- 3 COOPER PLZ, SUITE 200
CAMDEN, NJ 08103 - Phone
- (856) 342-2001
Quick Facts
- NPI
- 1023114592
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Accepted
- Specialties
- 2
- Locations
- 1
- Years in Practice
- 45
- Publications
- 11
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