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Office
171 Ashley Ave
Charleston, SC 29425Phone+1 843-792-1414Fax+1 864-941-8114
Education & Training
- University of Texas Health Science Center at HoustonResidency, Medical Genetics and Genomics, 2003 - 2006
- University of Texas Medical Branch HospitalsResidency, Pediatrics, 1999 - 2002
- University of Texas Medical Branch School of MedicineClass of 1999
- University of RochesterBS, Molcular Genetics, 1990 - 1994
Certifications & Licensure
- SC State Medical License 2008 - 2025
- TX State Medical License 2002 - 2008
- American Board of Medical Genetics and Genomics Medical Biochemical Genetics
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 2 citationsVariants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim
Nature Communications. 2024-01-08 - 6 citationsCERT1 mutations perturb human development by disrupting sphingolipid homeostasis.Charlotte Gehin, Museer A Lone, Winston Lee, Laura Capolupo, Sylvia Ho
The Journal of Clinical Investigation. 2023-05-15 - 4 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
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