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3520 W Montague AveSte 104North Charleston, SC 29418
Phone+1 864-941-8100
Fax+1 864-941-8114
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Education & Training
David Grant Medical CenterResidency, Pediatrics, 1997 - 2000
Tufts University School of MedicineClass of 1997
Certifications & Licensure
CA State Medical License 2003 - Present
SC State Medical License 2005 - 2025
CT State Medical License 1999 - 2003
American Board of Medical Genetics and Genomics Clinical Genetics
American Board of Pediatrics Pediatrics
Awards, Honors, & Recognition
- Fellow (FAAP) American Academy of Pediatrics
Publications & Presentations
PubMed
- 6 citationsDNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.Jet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Michael A Levy
Genetics in Medicine. 2023-01-01 - 4 citationsFurther clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.Julian Delanne, Magaly Lecat, Patrick R Blackburn, Eric W Klee, Constance T R M Stumpel
European Journal of Medical Genetics. 2023-01-01 - 1 citationsLoeys-Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype.Deanna Fry, Daniel Groepper, Gretchen MacCarrick, Erin M Demo, Matthew J Thomas
American Journal of Medical Genetics. Part A. 2022-07-01
Press Mentions
MUSC Brings Together Precision Health Experts to Talk Prevention, Health EquityDecember 2nd, 2024
Professional Memberships
- Fellow
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