Stevenson, Roger

Ravenel Boykin Curry Chair in Genetic Therapeutics

Stevenson, Roger

Although considerable progress has been made in recent decades, the understanding of birth defects and intellectual disabilities is surprisingly limited. In only about half of patients who have intellectual disabilities 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 three editions of Human Malformations and Related Anomalies. He and his colleagues, Charles Schwartz, PhD, and Curtis Rogers, MD, authored Atlas of X-Linked Intellectual Disability Syndromes (Oxford University Press, 2012), and with colleagues Giovanni Neri and Luigi Boccuto authored Overgrowth Syndromes (Oxford University Press, 2019).

Contact Information

Office (864) 941-8146
Fax (864) 388-1707


  • 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


  • Stevenson RE. Common pathogenesis for sirenomelia, OEIS complex, limb-body wall defect, and other malformations of caudal structures. Am J Med Genet A 185(5):1379-1387, 2021. doi: 10.1002/ajmg.a.62103. PMID: 33522143.
  • Skinner C, Pauly R, Skinner SA, Schroer RJ, Simensen RJ, Taylor HA, Friez MJ, DuPont BR, Stevenson RE. Autistic Disorder: A 20 Year Chronicle. J Autism Dev Disord 51(2):677-684, 2021. doi: 10.1007/s10803-020-04568-3. PMID: 32592095.
  • Louie RJ, Collins DL, Friez MJ, Skinner C, Schwartz CE, Stevenson RE. Schimke XLID syndrome results from a deletion in BCAP31. Am J Med Genet A 182(9):2168-2174, 2020. doi: 10.1002/ajmg.a.61755. PMID: 32681719.
  • Dean JH, Pauly R, Stevenson RE. Neural Tube Defects and Associated Anomalies Before and After Folic Acid Fortification. J Pediatr S0022-3476(20)30845-3, 2020. doi: 10.1016/j.jpeds.2020.07.002. [Online ahead of print]. PMID: 32634404.
  • Ziats CA, Schwartz CE, Gecz J, Shaw M, Field MJ, Stevenson RE, Neri G. X-linked Intellectual Disability: Phenotypic Expression in Carrier Females. Clin Genet 97(3):418-425, 2020. doi: 10.1111/cge.13667. PMID: 31705537.
  • Louie RJ, Friez MJ, Skinner C, Baraitser M, Clark RD, Schwartz CE, Stevenson RE. Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12. Am J Med Genet A 182(3):595-596, 2020. doi: 10.1002/ajmg.a.61443.PMID: 31814248.
  • Stevenson RE, Chudley AE, Srivastava AK, Rodriguez J, Friez MJ, Schwartz CE. UBE2A-related X-linked intellectual disability. Clin Dysmorphol 28(1):1-6, 2019. doi: 10.1097/MCD.0000000000000242. PMID: 30179896.
  • Spellicy CJ, Norris J, Bend R, Bupp C, Mester P, Reynolds T, Dean J, Peng Y, Alexov E, Schwartz CE, Stevenson RE, J Friez M. Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects. Eur J Hum Genet 26(3):420-427, 2018. doi: 10.1038/s41431-017-0025-y. PMID: 29358613.
  • Friez MJ, Brooks SS, Stevenson RE, Field M, Basehore MJ, Adès LC, Sebold C, McGee S, Saxon S, Skinner C, Craig ME, Murray L, Simensen RJ, Yap YY, Shaw MA, Gardner A, Corbett M, Kumar R, Bosshard M, van Loon B, Tarpey PS, Abidi F, Gecz J, Schwartz CE. HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study. BMJ Open. 6:e009537, 2016. doi: 10.1136/bmjopen-2015-009537. PMID: 27130160.
  • Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière JB, Isidor B, Gan G, Francannet C, Willems M, Gunel M, Jones JR, Gleeson JG, Mandel JL, Stevenson RE, Friez MJ, Aylsworth AS. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. Eur J Hum Genet 23:1482-7, 2015. doi: 10.1038/ejhg.2015.29. PMID: 25920557.
  • Lubs HA, Stevenson RE, Schwartz CE. Fragile X and X-linked intellectual disability: four decades of discovery. Am J Hum Genet 90:579-90, 2012.
  • Schroer RJ, Holden KR, Tarpey PS, Matheus MG, Griesemer DA, Friez MJ, Fan JZ, Simensen RJ, Strømme P, Stevenson RE, Stratton MR, Schwartz CE. Natural history of Christianson syndrome. Am J Med Genet A 152A(11):2775-83, 2010.Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, Stevenson RE, Friez MJ. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet 47:38-48, 2010.
  • Tarpey PS…Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA, Stratton MR. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet 41:535-543, 2009.
  • Lyons MJ, Graham JM Jr, Neri G, Hunter AG, Clark RD, Rogers RC, Moscarda M, Buccuto L, Simensen R, Dodd J, Robertson S, DuPont BR, Friez MJ, Schwartz CE, Stevenson RE: Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. J Med Genet 46:9-13, 2009.
  • 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.
  • 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.
  • 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.
  • 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, Hall JG. Human Malformations and Related Anomalies, Ed 2. Oxford Univ Press, New York, 2006.
  • Stevenson RE, Schwartz CE, Rogers RC. Atlas of X-Linked Intellectual Disability Syndromes, Ed 2. Oxford Univ Press, New York, 2012.
  • Neri G, Boccuto L, Stevenson RE. Overgrowth Syndromes: A Clinical Guide. Oxford Univ Press, New York, 2019.

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Our daughter, Ryleigh, was diagnosed with a rare chromosomal deletion shortly after she was born in 2010. Since we received her diagnosis, the Greenwood Genetic Center has become part of our family. They made certain that we did not feel alone, and they continue to provide ongoing, compassionate care for our child. The impact they have had on our family and others across the globe everyday is immeasurable. We can't imagine walking this journey without...

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