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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
- 71 citationsExome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduriaJennifer L. Sloan, Jennifer J. Johnston, Irini Manoli, Randy J. Chandler, Caitlin Krause
Nature Genetics. 2011-09-01 - 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 - 21 citationsA recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalusIllja J. Diets, Trine Prescott, Neena L. Champaigne, Grazia M.S. Mancini, Bård Krossnes
Genetics in Medicine. 2019-03-01
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