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Office
10903 New Hampshire Ave
Silver Spring, MD 20993Phone+1 240-402-2538
Education & Training
- Children's Hospital of PhiladelphiaResidency, Pediatrics/Medical Genetics and Genomics, 2000 - 2003
- Washington University/B-JH/SLCH ConsortiumResidency, Pediatrics, 1995 - 1998
- Northwestern University The Feinberg School of MedicineClass of 1995
Certifications & Licensure
- MD State Medical License 2003 - 2025
- DC State Medical License 2003 - 2018
- VA State Medical License 2003 - 2016
- PA State Medical License 2000 - 2004
- American Board of Medical Genetics and Genomics Clinical Genetics
Publications & Presentations
PubMed
- 141 citationsMutations in PDGFRB Cause Autosomal-Dominant Infantile MyofibromatosisJohn A. Martignetti, Lifeng Tian, Dong Li, Maria Celeste M. Ramirez, Olga Camacho-Vanegas
American Journal of Human Genetics. 2013-06-06 - 28 citationsThiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies.Jamie L. Fraser, Adeline Vanderver, Sandra Yang, Taeun Chang, Laura Cramp
Molecular Genetics and Metabolism Reports. 2014-02-11 - 43 citationsExpanding the SHOC2 Mutation Associated Phenotype of Noonan Syndrome with Loose Anagen Hair: Structural Brain Anomalies and MyelofibrosisKaren W. Gripp, Dina J. Zand, Laurie A. Demmer, Carol E. Anderson, William B. Dobyns
American Journal of Medical Genetics. Part A. 2013-08-05
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