Neena L. Champaigne MD
Clinical Genetics, Medical Biochemical Genetics
Physician
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171 Ashley AveCharleston, SC 29425
Phone+1 843-792-1414
Fax+1 864-941-8114
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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
- 3 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 - 12 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 - 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
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