864-941-8146 (voice)
864-388-1707 (fax)
res@ggc.org |
Director
(Sr. Clinical
Geneticist, Sr. Clinical Laboratory Geneticist)
- M.D., Bowman Gray School of Medicine, Wake Forest University,
Winston-Salem, NC, 1966
- Intern, Dept. of Pediatrics, NC Baptist Hospital, Winston-Salem,
NC, 1966-1967
- Resident, Dept. of Pediatrics, Johns Hopkins Hospital,
Baltimore, MD, 1967-1969
- Research Fellow, Metabolism Division; Fellow, Division
of Genetics, Johns Hopkins University School of Medicine, Baltimore,
MD, 1971-1972
- Faculty, Department of Pediatrics, University of Texas Medical
School, Houston, TX, 1972-1974
|
|
Although considerable progress has been made in recent decades,
the understanding of birth defects and mental retardation is surprisingly
limited. In only about half of patients who have mental retardation
or significant birth defects can the cause be identified - a necessary
first step if prevention strategies are to be developed.
Dr. Stevenson’s professional career has been devoted to
the study of birth defects and developmental impairments. He has
contributed broadly to the literature on the cytogenetic, metabolic,
molecular and environmental causes of these disabilities, authored
two editions of the textbook The Fetus and Newly Born Infant, Influences of the
Prenatal Environment, and with Dr. Judith Hall produced the second edition
of Human Malformations and Related
Anomalies. He and his colleagues, Charles Schwartz, PhD and Richard Schroer,
MD, authored X-Linked Mental Retardation, which included an Atlas of XLMR
Syndromes.
Selected Publications:
- Stevenson RE, Massey PS, Schroer RJ, McDermott S,
Richter B. Preventable fraction of mental retardation: analysis
based on individuals with severe mental retardation. Ment Ret
34:182-188, 1996.
- Stevenson RE, Arena JF, Ouzts E, Gibson A, Shokeir
MHK, Vnencak-Jones C, Lubs HA, May M, Schwartz CE. Renpenning
syndrome maps to Xp11. Am J Hum Genet 62:1092-101, 1998.
- Stevenson RE. Splitting and lumping in the nosology
of XLMR. Am J Med Genet (Semin Med Genet) 97:174-182, 2000.
- Stevenson RE, Allen WP, Pai GS, Best R, Seaver LH,
Dean J, Thompson S. Decline in prevalence of neural tube defects
in a high-risk region of the United States. Pediatrics 106:677-683,
2000.
- Stevenson RE and Schwartz CE.
Clinical and molecular contributions to the understanding of X-linked mental
retardation. Cytogenet Genome Res 99:265-275, 2002.
-
De Mollerat XJ, Everman DB, Morgan CT, Clarkson KB, Rogers RC,
Colby RS, Aylsworth AS, Graham JM, Stevenson RE, Schwartz CE.: P63
mutations are not a major cause of nonsyndromic split hand/foot malformation.
J Med Genet 40:55-61, 2003.
- Cason AL, Ikeguchi Y, Skinner C, Wood TC, Holden KR, Lubs
HA, Martinez F, Simensen RJ, Stevenson RE, Pegg AE, Schwartz CE:
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency
syndrome. Eur J Hum Genet 11:937, 2003.
- Stevenson RE, Procopio-Allen AM, Schroer RJ, Collins
JS: Genetic syndromes among individuals with mental retardation. Am J Med
Genet 123A:29-32, 2003.
- Lenski C, Abidi F, Meindl A,
Gibson A, Platzer M, Kooy F, Lubs HA, Stevenson RE, Ramser J, Schwartz
CE: Novel truncating mutations in the polyglutamine tract binding protein
gene, PQBP-1, cause Renpenning syndrome and another XLMR family with
microcephaly. Am J Hum Genet 74:777-780, 2004.
- Stevenson RE, Seaver LH, Collins JS, Dean JH: Neural tube defects and
associated anomalies in South Carolina. Birth Defects Res (A) 70:554-558,
2004.
- Tarpey P, Parnau J, Blow M, Woffendin H, Bignell G, Cox C,
Cox J, Davies H, Edkins S, Holden S, Korny A, Mallya U, Moon J, O’Meara S,
Parker A, Stephens P, Stevens C, Teague J, Donnelly A, Mangelsdoft M, Mulley
J, Partington M, Turner G, Stevenson R, Schwartz C, Young I, Easton D,
Bobrow M, Futreal PA, Stratton MR, Gecz J, Wooster R, Raymond FL: Mutations in
the DLG3 gene cause nonsyndromic X-linked mental retardation. Am J Hum Genet
75:318-324, 2004.
- Schwartz CE,
May MM, Carpenter NH, Rogers CR, Martin J, Bialer MG, Ward J, Sanabria J,
Marsa S, Lewis JA, Echeverri R, Lubs HA, Voeller K, Simensen RJ, Stevenson
RE: Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8)
Gene. Am J Hum Genet 77:41-53, 2005.
- Stevenson RE:
Advances in X-linked mental retardation. Curr Opin Pediatr 17:720-724, 2005.
- Stepp ML, Cason AL, Finnis M, Mangelsdorf M, Holinski-Feder
E, Macgregor D, MacMillan A, Holden JJ, Gecz J, Stevenson RE, Schwartz
CE: XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in
the ARX (Aristaless related homeobox) gene. BMC Med Genet 6:16, 2005.
- Stevenson RE, Bennett CW, Abidi F, Kleefstra T,
porteous M, Simensen RJ, Lubs HA, Hamel BCJ, Schwartz CE: Renpenning syndrome
comes into focus. Am J Med Genet 134A:415-421, 2005.
- Ramser J, Abidi FE, Burckle CA, Lenski C, Toriello H, Wen
G, Lubs HA, Engert S, Stevenson RE, Meindl A, Schwartz CE, Nguyen G: A
unique exonic splice enhancer mutation in a family with X-linked mental
retardation and epilepsy points to a novel role of the renin receptor. Hum Mol
Genet 14:1019-1027, 2005.
- Lubs H, Abidi FE, Echeverri R, Holloway L, Meindl A, Stevenson RE, Schwartz CE: Golabi-Ito-Hall syndrome results from a
missense mutation int eh WW domain of the PQBP1 gene. J Med Genet 43:e30,
2006.
- Clark AJ, Rosenberg EH, Almeida LS, Wood TC, Jakobs C, Stevenson RE, Schwartz CE, Salomons GS: X-linked creatine transporter
(SLC6A8) mutations in about 1% of males with mental retardation of unknown
etiology. Hum Genet 119:604-610, 2006.
- Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM,
Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, Briault S, Skinner C,
Bauer-Carlin A, Simensen RJ, Joseph SM, Jones JR, Gecz J, Stratton MR,
Raymond FL, Stevenson RE: The original Lujan syndrome family has a
novel missense mutation (p. N1007S) in the MED12 gene. J Med Genet 2007 [Epub
ahead of print March 16].
- Risheg H, Friez MJ, Graham Jr. JM, Moeschler JB, Rogers
RC, Opitz JM, Stevenson RE, Schwartz CE: A novel missense mutation,
p.R808W, in the HOPA gene is present in 10% of a cohort of FG syndrome
families. Nat Genet 39:451-453, 2007.
Books:
- Stevenson RE, Hall JG. Human Malformations
and Related Anomalies, Ed 2. Oxford Univ Press, New York, 2006.
- Stevenson RE, Schwartz CE, Schroer RJ. X-Linked Mental
Retardation. Oxford Univ Press, New York, 2000.
|
|
