The Angelman, Rett and Prader-Willi Syndromes Consortium Child looking up

Greenwood Genetic Center - Greenwood, SC

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Contact Information:

Steve Skinner, M.D.
Senior Clinical Geneticist
Director of Clinical Services
Greenwood Genetic Center
106 Gregor Mendel Circle
Greenwood, S.C. 29646
phone: 864-941-8100
toll free: 1-888-GGC-GENE
fax: 864-941-8114
sas@ggc.org


Fran Annese, LMSW
Greenwood Office Clinic Manager
Clinical Research Coordinator
Greenwood Genetic Center
106 Gregor Mendel Circle
Greenwood, S.C. 29646
phone: 864-941-8100
toll free: 1-888-GGC-GENE
fax: 864-941-8114
fran@ggc.org

Links:

Greenwood Genetic Center

Dr. Roger Stevenson's Web Page

Current Clinical Studies:

5201: Rett Syndrome Natural History Study

5203: Angelman Syndrome Natural History Study

5204: Efficacy of a Therapeutic Treatment Trial in Angelman Syndrome

List of Publications:

  1. Saul RA, Stevenson RE, Rogers RC, Skinner SA, Prouty LA, and Flannery DB: Growth References from Conception to Adulthood, Jacobs Press, 1988

  2. Skinner SA, Stevenson RE, Flannery DB: Catel-Manzke Syndrome, Proc Greenwood Genetic Center 8:60-63, 1989

  3. Skinner SA and Stevenson RE: Obstruction as a Cause of Failure of Testicular Descent, Proc Greenwood Genetic Center 8:28-30, 1989

  4. Macpherson RI, Skinner SA, Donnenfeld AE: Acampomelic Campomelic dysplasia, Pediatric Radiology 20:90-93, 1989

  5. Stevenson RE, Phelan MC, and Skinner SA: Pregnancy and triple X, Proc Greenwood Genetic Center 8:44-49, 1989

  6. Allen WP, Stevenson RE, Saul RA, and Skinner SA: Macrocephaly-mesodermal hamartoma spectrum, Proc Greenwood Genetic Center 9:16-18, 1990

  7. Skinner SA: Osteodysplastic primordial dwarfism, Proc Greenwood Genetic Center 10:31-33, 1991

  8. Phelan MC, Skinner, SA, Cooley L, and Richter B: Familial translocation (8; 9) resulting in trisomy 8q24.1®qter in three generations, Proc Greenwood Genetic Center 11:22-25, 1992.

  9. Taylor HA, Skinner SA: Beta Galactosidase Deficiency, Proc Greenwood Genetic Center 13:20-22, 1994

  10. Skinner SA: Neurenteric Malformations, Proc Greenwood Genetic Center 13:20-22, 1994

  11. Skinner SA, Cooley L, Phelan MC, et al: Fetal Autopsies: A ten year experience, Proc Greenwood Genetic Center 13:26-28, 1994

  12. Phelan MC, Saul RA, Gailey Jr TA, Skinner SA: Prenatal diagnosis of mosaic 4p- in a fetus with trisomy 21, Prenat Diagn. 15:274-277, 1995

  13. Michaelis RC, Skinner SA, Lethco BA, Simensen RJ, Donlon TA, Tarleton J, Phelan MC: Deletion Involving D15S113 in a Mother and Son Without Angelman Syndrome: Refinement of the Angelman Syndrome Critical Deletion Region. Am J Med Genet. 55:120-126, 1995

  14. Skinner SA: Mental Retardation in South Carolina VI. Recognizable Syndromes of Presumed Genetic Cause, Proc Greenwood Genetic Center 15:71-75, 1996.

  15. 15.Michaelis RC, Skinner SA, Deason R, Skinner C, Moore CL, Phelan MC: Intersitial deletion of 20p: new candidate region for Hirschsprung disease and autism?, Am J Med Genet. 71:298-304, 1997.

  16. Schroer RJ, Phelan MC, Michaelis RC, Crawford EC, Skinner SA, Cuccaro M, Simensen RJ, Bishop J, Skinner C, Fender D, Stevenson RE: Autism and maternally derived aberrations of chromosome 15q, Am J Med Genet. 76:327-336, 1998.

  17. Erickson RP, Skinner SA, Jacquet H, Campion D, Buckley PG, Mantripragada KK, Dumanski JP: Does Chromosome 22 Have Anything to Do With Sex Determination: Further Studies on a 46,XX,22q11.2 Del Male, Am J Med Genet. 123A:64-67, 2003.

  18. Percy AK, Lane JB, Childers J, Skinner S, Annese F, Barrish J, Caeg E, Glaze DG, MacLeod P: Rett Syndrome: North American Database, J Child Neurol. 22:1338-1341, 2007.

  19. Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani SC, Franco LM, Malphrus A, Bottenfield GW, Spence JE, Amato S, Rousseau JA, Moghaddam B, Skinner C, Skinner SA, Bernes S, Armstrong N, Shinawi M, Stankiewicz P, Patel A, Cheung SW, Lupski JR, Beaudet AL, Sahoo T: Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders, J Med Genet. 46:382-8, 2009.

  20. Percy AK, Lee HS, Neul JL, Lane JB, Skinner SA, Geerts SP, Annese F, Graham J, McNair L, Motil KJ, Barrish JO, Glaze DG: Profiling Scoliosis in Rett Syndrome, Pediatr Res. 67:435-439, 2010.

  21. Kirby RS, Lane JB, Childers J, Skinner SA, Annese F, Barrish JO, Glaze DG, Macleod P, Percy AK: Longevity in Rett Syndrome: Analysis of the North American Database, J Pediatr. 156:135-138, 2010.

  22. Glaze DG, Percy AK, Skinner S, Motil KJ, Neul JL, Barrish JO, Lane JB, Geerts SP, Annese F, Graham J, McNair L, Lee HS: Epilepsy and the natural history of Rett syndrome, Neurology 74:909-12, 2010.

  23. Geer JS, Skinner SA, Goldin E, Holden KR: Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder, Pediatr Neurol.42:223-6, 2010

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