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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
- Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study.Nathalie Guffon, Barbara K Burton, Can Ficicioglu, Martin Magner, Mercedes Gil-Campos
Molecular Genetics and Metabolism. 2024-08-01 - 2 citationsGenetic Causes of Vascular Malformations and Common Signaling Pathways Involved in Their Formation.Aubrey L Rose, Sara S Cathey
Dermatologic Clinics. 2022-10-01 - 3 citationsScalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature.Kameryn Butler, Vahid Bahrambeigi, Allie Merrihew, Michael J. Friez, Sara Cathey
Clinical Dysmorphology. 2021-08-26
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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