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Office
3520 W Montague Ave
Ste 104
Charleston, SC 29418Phone+1 843-746-1001Fax+1 843-746-1002
Education & Training
Greenwood Genetic CenterResidency, Medical Genetics and Genomics, 2004 - 2006
Prisma Health/University of South Carolina SOM Columbia (Columbia)Residency, Pediatrics, 1997 - 2000
Marshall University Joan C. Edwards School of MedicineClass of 1997
Certifications & Licensure
SC State Medical License 1998 - 2025
KY State Medical License 2000 - 2009- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Clinical Trials
- Longitudinal Studies of the Glycoproteinoses Start of enrollment: 2009 Aug 01
Publications & Presentations
PubMed
- 22 citationsOutcomes after hematopoietic stem cell transplantation for children with I-cell disease.Troy C. Lund, Sara S. Cathey, Weston P. Miller, Mary Eapen, Martin Andreansky
Biology of Blood and Marrow Transplantation. 2014-11-01 - 14 citationsThree additional patients with EED-associated overgrowth: potential mutation hotspots identified?Catherine J Spellicy, Yunhui Peng, Leah Olewiler, Sara S. Cathey, R. Curtis Rogers
Journal of Human Genetics. 2019-03-11 - 40 citationsThe lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutationsRenata Voltolini Velho, Frederike L. Harms, Tatyana Danyukova, Nataniel Floriano Ludwig, Michael J. Friez
Human Mutation. 2019-04-13
Journal Articles
- Site-1 Protease Deficiency Causes Human Skeletal Dysplasia Due to Defective Inter-Organelle Protein TraffickingRodger P McEver, Sara Cathey, Patrick M Gaffney, The Journal of Clinical Investigation
- BCL11B Mutations in Patients Affected by a Neurodevelopmental Disorder with Reduced Type 2 Innate Lymphoid CellsSara S Cathey, Marwan Shinawi, Brain
Grant Support
- Clinical And Laboratory Investigations Of Glycoprotein Storage Disorders (CATHEY)National Institute Of Neurological Disorders And Stroke2010–2011
- CatheyNational Institute Of Neurological Disorders And Stroke2009
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