SaraSCatheyMDFAAP, FACMG

Clinical Genetics

Clinical Geneticist

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Office
3520 W Montague Ave
Ste 104
Charleston, SC 29418
Phone+1 843-746-1001

Fax+1 843-746-1002

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

PubMed

2 citations
Genetic Causes of Vascular Malformations and Common Signaling Pathways Involved in Their Formation.
Aubrey L Rose, Sara S Cathey
Dermatologic Clinics. 2022-10-01
4 citations
Intellectual functioning in alpha-mannosidosis.
Sara Cathey, Sara M. Sarasua, Richard J. Simensen, Katie Pietris, Gordon Kimbrell
JIMD Reports. 2019-09-21
40 citations
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations
Renata 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 Trafficking
Rodger 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 Cells
Sara S Cathey, Marwan Shinawi, Brain

Clinical And Laboratory Investigations Of Glycoprotein Storage Disorders (CATHEY)National Institute Of Neurological Disorders And Stroke2010–2011
CatheyNational Institute Of Neurological Disorders And Stroke2009