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 two 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).
Skinner C, Schroer RJ, Stevenson RS. Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders. Molecular Cytogenetics 2012, 5:17.
Lubs HA, Stevenson RE,, Schwartz CE. Fragile X and X-linked intellectual disability: four decades of discovery. Am J Hum Genet. 2012 Apr 6; 90(4):579-90.
Stevenson RE, Holden KR, Rogers RC, Schwartz CE. Seizures and X-linked intellectual disability. Europ J Med Genet 2012 Feb:307-312.
Hunter AG, Seaver LH, Stevenson RE. Limb-body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies? Am J Med Genet A. 2011 Sep;155(9):2045-59.
Collins JS, Atkinson KK, Dean JH, Best RG, Stevenson RE. Long term maintenance of neural tube defects prevention in a high prevalence state. J Pediatr. 2011 Jul;159(1):143-149.
Collins JS, Marvelle AF, Stevenson RE. Sibling recurrence in intellectual disability of unknown cause. Clin Genet. 2011 May;79(5):498-500.
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. 2010 Nov;152A(11):2775-83.
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.
Clark RD, Graham JM Jr, Friez MJ, Hoo JJ, Jones KL, McKeown C, Moeschler JB, Raymond FL, Rogers RC, Schwartz CE, Battaglia A, Lyons MJ, Stevenson RE. FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing. Genet Med 11:769-775, 2009.
Stevenson RE, Rogers RC, Chandler JC, Gauderer MW, Hunter AG. Escape of the yolk sac: a hypothesis to explain the embryogenesis of gastroschisis. Clin Genet 75:326-333, 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.
Jones JR, Skinner C, Friez MJ, Schwartz CE, Stevenson RE. Hypothesis: Dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders. Am J Med Genet A 146A:2213-2220, 2008.
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.
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 44:472-477, 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.
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.
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.
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.
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.
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 and Schwartz CE. Clinical and molecular contributions to the understanding of X-linked mental retardation. Cytogenet Genome Res 99:265-275, 2002.
Stevenson RE. Splitting and lumping in the nosology of XLMR. Am J Med Genet (Semin Med Genet) 97:174-182, 2000.
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.