• Research Scientist, La Jolla Cancer Research Foundation, La Jolla, CA, 1980-1981

• Research Associate, Dept. of Human Genetics, University of Utah School of medicine, 1983-1985

• Director, Molecular Genetics Laboratory, Greenwood Genetic Center, 1985-1995

• Diplomate, American Board of Medical Genetics (Molecular Genetics), since 1993

• Director, Center for Molecular Studies, JC Self Research Institute of Human Genetics, Greenwood Genetic Center, 1996-present

• Director of Research and Head of JC Self Research Institute of Human Genetics, Greenwood Genetic Center, 2004-present

• Director, Clinical Molecular Genetics; American Board of Medical Genetics; January 2006-present

• Treasurer, American Board of Medical Genetics; 2007

• Vice President, American Board of Medical Genetics; January 2008-present

Faculty Appointments

• Adjunct Professor, Dept. of Genetics and Biochemistry, Clemson University, Clemson, SC, 1987-present

• Assistant Professor of Pediatrics; University of South Carolina; Columbia, SC; 1987-present

• Adjunct Assistant Professor of Biology; University of South Carolina; Columbia, SC; 1988-present

Awards/Certifications

• Professional of the Year, SC Chapter of the American Association on Mental Retardation, Nov. 2002

• Robert Guthrie Award for Advances in Biochemical and Molecular Genetics, American Association of Mental Retardation, May 2003

My research interests focus on the causes of mental retardation and birth defects. For the former, my laboratory is concentrating on identifying genes responsible for X-linked mental retardation (XLMR). To date, 560 families have been enrolled in our project. Linkage has been achieved in 72 of the families and we have a suggested localization in 12 other families. If candidate genes have already been mapped to the region of localization, they are tested for mutations. If no genes are available, physical mapping experiments are conducted in order to identify coding sequences in the region. Using this approach, we have cloned 22 XLMR genes.

We have identified over 20 novel mutations in RSK2 in Coffin-Lowry patients. We have collaborated with Dr. A. Hanauer (Strasbourg) in an attempt to determine if a genotype/ phenotype correlation exists. With respect to the Aarskog syndrome, we have determined that the phenotype most frequently results from mutations giving rise to a truncated form of the FGD1 gene. We will now attempt to see if there are subtle phenotypic variations between missense and truncating mutations. Also, we have identified a missense mutation in FGD1, which causes nonsyndromic XLMR. Thus, mutations in this gene give rise to XLMR different from Aarskog syndrome.

Quite a number of look-alike syndromes with hypotonic facial features have been considered to be possible genocopies of the XLMR-hypotonic facies-ATRX syndrome. Mutational analysis of XNP conducted by us showed this to be the case for the Carpenter-Waziri, Holmes-Gang, Chudley-Lowry and Golabi-Ito-Hall syndromes. Furthermore, in association with Drs. Fontes and Villard (Marseille), we have been able to show that 25% of males with severe/moderate MR and hypotonic facial features have mutations in the XNP gene.

Recently, we determined that mutations in the creatine transporter gene in Xq28 are responsible for just under 1 percent of males with XLMR. As there is a biochemical assay available to examine levels of creatine in serum, we are exploring the possibility of using a screening test in males with MR. Additionally, we showed that mutations in the thyroid hormone transporter, MCT8, causes Allan-Herndon-Dudley syndrome. Since these patients have elevated T3 levels, it is possible to use a biochemical assay to screen for this condition. Lastly, we identified a mutation in the MED12 gene in the original Lujan syndrome family. This is significant since a group headed by another member of the faculty (Dr. Mike Friez) has shown that a MED12 mutation is present in the original FG syndrome family. Thus, these two XLMR entities are allelic.

With respect to birth defects, my laboratory has conducted experiments to identify genes, which confer a high risk on couples to give birth to a child with a neural tube defect (NTD). Along these lines, in 1996 we showed that a certain genotype at the MTHFR (5,10 methylenetetrahydrofolate reductase) locus increases the risk of NTDs and may account for a substantial proportion of NTDs that are preventable with folic acid supplementation. We continue to study other genes in the folate pathway to determine their role in the generation of NTDs.

Finally, a project exists to clone a gene responsible for ectrodactyly (split hand/split foot). Previously, using linkage analysis in eight families, my group localized a gene for this entity to 10q24. In 2003, we identified a complex, localized, chromosomal rearrangement in 10q24 that results in a small tandem duplication in SHFM3 patients. Currently this research is focused on understanding how this chromosomal change gives rise to SHFM3.

Submission of Samples: Geneticists or clinicians interested in submitting samples for XLMR or autism studies should contact Cindy Skinner, sample coordinator (cindy@ggc.org) or 800-939-1920. Mrs. Skinner will be able to provide details of sample submission requirements as well as proper consent forms.

Selected Publications: 

• Schwartz CE, Ulmer J, Brown A, Pancoast I, Goodman HO and Stevenson RE: Allan-Herndon syndrome II. Linkage to DNA markers in Xq21. Am J Hum Genet 47:454-458, 1990.
• Schwartz CE, Lubs HA, Arena JF and Stevenson RE: Evidence that distinct regions on the X chromosome have a high concentration of genes causing mental retardation in Biological Psychiatry, Vol 2, (G. Racagni et al, editors), pp. 481-484, 1991.
• Schwartz CE: Invited Editorial: XLMR: In pursuit of a gene map. Am J Hum Genet 52:1025-1031 (1993).
• Vits L, van Camp G, Coucke P, Wilson G, Schrander-Stumpel C, Lyonnet S, Munnich A, Schwartz C and Willems PJ: MASA syndrome is due to mutations in the neural cell adhesive gene L1CAM. Nature Genetics 71: 408-413, 1994.
• Marinoni J-C, Boyd E, Sherman S and Schwartz C: Familial split hand/split foot long bone deficiency does not segregate with markers linked to the SHFDl locus in 7q12.3-q22.1. Hum Mol Genet 3:1355-1357, 1994.
• Pasteris NG, Cadle A, Logie LJ, Porteous M, Schwartz CE, Stevenson RE, Glover TW, Wilroy RS and Gorski JL: Isolation and characterization of the Faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative rho/rac guanine nucleotide exchange factor. Cell 79:669-678, 1994.
• May M, Colleaux L, Murgia A, Aylsworth A, Nussbaum R, Fontes M and Schwartz C. Molecular analysis for four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM. Hum Mol Genet 4:1465-1466, 1995.
• Colleaux L, May M, Belougne J, Lepaslier D, Schwartz CE and Fontes M. Localization of two candidate genes for mental retardation using a YAC physical map on the Xq21.1-21.2 sub-bands. J Med Genet 33:353-357, 1996.
• Ou CY, Stevenson RE, Brown VK, Schwartz CE, Allen WP, Khoury MJ, Rozen R, Oakley GP, Adams MJ. 5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. Am J Med Genet 63:610-614, 1996.
• Gurrieri F, Prinos P, Tackels D, Kilpatrick MW, Allanson J, Genuardi M, Vuckov A, Nanni L, Sangiorgi E, Ganofalo G, Nunes ME, Neri G, Schwartz C and Tsipouras P: A Split Hand-Split Foot (SHFM3) gene is located on chromosome 10q24-25. Am J Med Genet 1996 62: 427-436, 1996.
• Jin H, May M, Tranebjaerg L, Kendall E, Fontán G, Jackson J, Subramony SH, Arena F, Lubs H, Smith S, Stevenson R, Schwartz C and Vetrie D: A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. Nat Genet 14:177-180, 1996.
• Abidi F, Jacquot S, Lassiter C, Trivier E, Hanauer A and Schwartz CE: Novel mutations in RSK2, the gene for Coffin-Lowry syndrome (CLS). Eur J Hum Genet 7:20-26, 1999.
• Abidi F, Schwartz CE, Carpenter NJ, Villard L, Fontés M and Curtis M: Letter to the Editor: Carpenter-Waziri syndrome results from a mutation in XNP. Am J Med Genet 85:249-251, 1999.
• Schwartz C, Gillessen-Kaebach G, May M, Cappa M, Gorski J, Steindl K and Neri G: Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. Eur. J Human Genet 8:869-874, 2000.
• Delaunoy J-P, Abidi F, Zeniou M, Jacquot S, Merienne K, Pannetier S, Schmitt M, Schwartz CE and Hanauer A: Mutations in the X-linked RSK2 gene (RSP6KA3) in patients with Coffin-Lowry Syndrome. Hum Mutation 17:103-116, 2001.
• Tackels-Horne D, Toburen A, Sangiorgi E, Gurrieri F, de Mollerat X, Fischetto R, Causio F, Clarkson K, Stevenson RE, Schwartz CE: Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21. Clin Genet 59:28-36, 2001.
• Lebel RR, May M, Pouls S, Lubs HA, Stevenson RE and Schwartz CE: Nonsyndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. Clinical Genet 61(2):139-145, 2002.
• Hahn KA, Salomons GS, Tackels-Horne D, Wood TC, Taylor HA, Schroer RJ, Lubs HA, Jakobs C, Olson RL, Holden KR, Stevenson RE and Schwartz CE: X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the Creatine-Transporter Gene (SLC6A8) located in Xq28. Am J Hum Genet 70(5):1349-1356, 2002.
• Plenge RM, Stevenson RE, Lubs HA, Schwartz CE and Willard HF: Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders. Am J Hum Genet 71:168-173, 2002.
• Simensen RJ, Abidi F, Collins JS, Schwartz CE and Stevenson RE: Cognitive function in Coffin-Lowry syndrome. Clin Genet 61:299-304, 2002.
• Vervoort VS, Beachem MA, Edwards PS, Ladd S, Miller KE, de Mollerat X, Clarkson K, DuPont B, Schwartz CE, Stevenson RE, Boyd E, Srivastava AK: AGTR2 mutations in X-linked mental retardation. Science 296:2401-2403, 2002.
• Winnepenninckx B, Errijgers V, Reyniers E, De Deyn PP, Abidi FE, Schwartz CE, Kooy RF: Family MRX9 revisited; Further Evidence for Locus Heterogeneity in MRX. Am J Med Genet 112:17-22, 2002.
• Vervoort VS, Viljoen D, Smart R, Suthers G, DuPont BR, Abbott A, Schwartz CE: Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype. J Med Genet 39:893-899, 2002.
• Collins JS, Schwartz CE: Detecting polymorphisms and mutations in candidate genes. Am J Hum Genet 71:1251-1252, 2002.
• Vervoort VS, Smith RJ, O’Brien J, Schroer R, Abbott A, Stevenson RE, Schwartz CE: Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome. Eur J Hum Genet 10:757-766, 2002.
• Stevenson RE, Schwartz CE: Clinical and molecular contributions to the understanding of X-linked mental retardation. Cytogenet Genome Res 99:265-275, 2002.
• Longo I, Frints SGM, Fryns J-P, Meloni I, Pescucci C, Ariani F, Borghgraef M, Raynaud M, Marynen P, Schwartz C, Renieri A, Froyen G: A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients. J Med Genet 40:11-17 (2003).
• de Mollerat XJ, Everman DB, Morgan CT, Clarkson KB, Rogers RC, Colby RS, Aylsworth AS, Graham Jr JM, Stevenson RE, Schwartz CE: P63 mutations are not a major cause of non-syndromic split hand/foot malformation. J Med Genet 40:50-61, 2003.
• Castro NHC, Stocco dos Santos RC, Beçak W, Nelson R, Hane B, Lindsey CJ, Lubs HA, Stevenson RE, Schwartz CE: Shashi XLMR Syndrome: report of a second family. Am J Med Genet 118A:49-51, 2003.
• Robertson SP, Twigg SR, Sutherlan-Smith AJ, Biancalan V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, O’Rstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO, Bacino C, Becker K, Clayton-Smith J, Giovannucci-Uzielli M, Goh D, Grange D, Krajewska-Welasek M, Lacombe D, Morris C, Odent S, Savarirayan R, Stratton R, Superti-Furga A, Verloes A, Vigneron J, Wilcox W, Winter R, Young K: Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet 33:487-491, 2003.
• Stocco dos Santos RC, Castro NHC, Holmes AL, Beçak W, Tackels-Horne D, Lindsey CJ, Lubs HA, Stevenson RE, Schwartz CE: Stocco dos Santos XLMR Syndrome: Clinical elucidation and localization to Xp11.3-Xq21.3. Am J Med Genet 118A:255-259, 2003.
• Salomons GS, Van Dooren SJM, Verhoeven NM, Marsden D, Schwartz C, Cecil KM, Degrauw TJ, Jakobs C: X-linked creatine transporter defect: An overview. J Inherit Metab Dis 26:309-318, 2003.
• de Mollerat XJ, Gurrieri F, Morgan CT, Sangiorgi E, Everman DB, Gaspari P, Amiel J, Bamshad MJ, Lyle R, Blouin JL, Allanson JE, Le Marec B, Wilson M, Braverman NE, Radhakrishna U, Delozier-Blanchet C, Abbott A, Elghouzzi V, Antonarakis S, Stevenson RE, Munnich A, Neri G, Schwartz CE: A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Hum Mol Genet 12:1959-1971, 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, 2003.
• Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Kooy RF, Lubs HA, Stevenson RE, Schwartz CE:  Novel truncating mutations in the Polyglutamine Tract Binding Protein 1 Gene (PGBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.  Am J Hum Genet 74:777-780, 2004.
• Ruf RG, Xu P-X, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond Jr RM, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf E-M, Schwartz C, Chang EH, Smith RJH, Stratakis CA, Weil D, Petit C, Hildebrandt F. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci 101:8090-8095, 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, Mangelsdorf M, Mulley J, Partington M, Turner G, Stevenson RE, Schwartz CE, 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.
• Ramser J, Winnepenninckx B, Lenski C, Errijgers V, Platzer M, Schwartz CE, Meindl A, Kooy RF. A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9). J Med Genet 41:679-683, 2004.
• Thiffault I, Schwartz CE, Der Kaloustian V, Foulkes WD. Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome. Am J Med Genet A. 130:123-127, 2004.
• Cantagrel V, Lossi A-M, Boulanger S, Depetris D, Mattei M-G, Gecz J, Schwartz CE, Van Maldergem L, Villard L. Disruption of a new X inked gene highly expressed in brain in a family with two mentally retarded males. J Med Genet 41:736-742, 2004.
• Visootsak J, Rosner B, Dykens E, Schwartz C, Hahn K, White SM, Szeftel R, Graham, Jr JM. Clinical and Behavioral Features of Borjeson-Forssman-Lehmann Syndrome Patients with Mutations in PHF6. J Pediatr 145:819-825, 2004.
• Hunter AGW, Dupont B, McLaughlin M, Hinton L, Baker E, Ades L, Haan E, Schwartz CE. The Hunter McAlpine syndrome results from duplication 5q35-qter. Clin Genet 67:53-60, 2005.
• Abidi FE, Cardoso C, Lossi AM, Lowry RB, Depetris D, Mattei MG, Lubs HA, Stevenson RE, Fontes M, Chudley AE, Schwartz CE. Mutation in the 5’ alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome. Eur J Hum Genet 13:176-183, 2005.
• Ramser J, Abidi FE, Lenski K, Toriello H, Wen G, Lubs HA, Stevenson RE, Meindl A, Schwartz CE. A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of rennin receptor. Hum Molec Genet 14:1019-1027, 2005.
• Laumonnier F, Holbert S, Ronce N, Faravelli F, Lenzner S, Schwartz CE, Lespinasse J, Van Esch H, Lacombe D, Tuy FPD, van Bokhoven H, Fryns JP, Chelly J, Ropers HH, Morain C, Hamel BCJ, Briault S. Mutations in PHF8 are associated with X-linked mental retardation and cleft lip/cleft palate. J Med Genet 42:780-786, 2005.
• Stepp ML, Cason AL, Finnis M, Mangelsdorf M, Holinski-Feder E, Macgregor D, MackMillan A, Holden JJA, 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 NJ, Rogers RC, 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, Bennett CW, Abidi F, Kleefstra T, Porteous M, Simensen RJ, Lubs HA, Hamel BC, Schwartz CE. Renpenning syndrome comes into focus. Am J Med Genet A 134:415-421, 2005.
• Holden KR, Zuniga OF, May MM, Su H, Molinero MR, Rogers RC, Schwartz CE. X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype. J Child Neurol 20:852-857, 2005.
• Hagens O, Dubos A, Abidi F, Barbi G, Van Zutven L, Hoeltzenbein M, Tommerup N, Moraine C, Fryns JP, Chelly J, van Bokhoven H, Gecz J, Dollfus H, Ropers HH, Schwartz CE, de Cassia Stocco Dos Santos R, Kalscheuer V, Hanauer A. Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Hum Genet 118:578-590, 2006.
• Shalev SA, Chervinski E, Weiner E, Mazor G, Friez MJ, Schwartz CE. Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. Am J Med Genet A. 140:162-165, 2006.
• Zhang L, Wang T, Wright AF, Suri M, Schwartz CE, Stevenson RE, Valle D. A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindred. Am J Med Genet A. 140:349-357, 2006.
• Basel-Vanagaite L, Straussberg R, Friez MJ, Inbar D, Korenreich L, Shohat M, Schwartz CE. Expanding the phenotypic spectrum of L1CAM-associated disease. Clin Genet 69:414-419, 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.
• Lubs H, Abidi FE, Echeverri R, Holloway L, Meindl A, Stevenson RE, Schwartz CE. Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. J Med Genet 43:e30, 2006.
• Everman DB, Morgan CT, Lyle R, Laughridge ME, Bamshad MJ, Clarkson KB, Colby R, Gurrieri F, Innes AM, Roberson J, Schrander-Stumpel C, van Bokhoven H, Antonarakis SE, Schwartz CE. Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation. Am J Med Genet A. 140(13):1375-1383, 2006.
• Amos-Landgraf JM, Cottle A, Plenge RM, Friez M, Schwartz CE, Longshore J, Willard HF. X chromosome-inactivation patterns of 1,005 phenotypically unaffected females. Am J Hum Genet 79:493-499, 2006.
• Friez MJ, Jones JR, Clarkson K, Lubs H, Abuelo D, Bier JA, Pai S, Simensen R, Williams C, Giampietro PF, Schwartz CE, Stevenson RE. Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics 118(6):e1687-95.
• Feng J, Schroer R, Yan J, Song W, Yang C, Bockholt A, Cook EH Jr, Skinner C, Schwartz CE, Sommer SS. High frequency of neurexin 1beta signal peptide structural variants in patients with autism. Neurosci Lett 409(1):10-3, 2006.
• Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague JW, 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.
• Risheg H, Graham JM Jr, Clark RD, Rogers RC, Opitz JM, Moeschler JB, Peiffer AP, May M, Joseph SM, Jones JR, Stevenson RE, Schwartz CE, Friez MJ. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet 39(4):451-3, 2007.
• Lenski C, Kooy RF, Reyniers E, Loessner D, Wanders RJ, Winnepenninckx B, Hellebrand H, Engert S, Schwartz CE, Meindl A, Ramser J. The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. Am J Hum Genet 80(2):372-7, 2007.
• Tarpey PS, Raymond FL, O'Meara S, Edkins S, Teague J, Butler A, Dicks E, Stevens C, Tofts C, Avis T, Barthorpe S, Buck G, Cole J, Gray K, Halliday K, Harrison R, Hills K, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Varian J, West S, Widaa S, Mallya U, Moon J, Luo Y, Holder S, Smithson SF, Hurst JA, Clayton-Smith J, Kerr B, Boyle J, Shaw M, Vandeleur L, Rodriguez J, Slaugh R, Easton DF, Wooster R, Bobrow M, Srivastava AK, Stevenson RE, Schwartz CE, Turner G, Gecz J, Futreal PA, Stratton MR,
  Partington M: Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. Am J Hum Genet 80: 345-52, 2007.
• Raymond FL, Tarpey PS, Edkins S, Tofts C, O'Meara S, Teague J, Butler A, Stevens C, Barthorpe S, Buck G, Cole J, Dicks E, Gray K, Halliday K, Hills K, Hinton J, Jones D, Menzies A, Perry J, Raine K, Shepherd R, Small A, Varian J, Widaa S, Mallya U, Moon J, Luo Y, Shaw M, Boyle J, Kerr B, Turner G, Quarrell O, Cole T, Easton DF, Wooster R, Bobrow M, Schwartz CE, Gecz J, Stratton MR, Futreal PA. Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. Am J Hum Genet. 80:982-987, 2007.
• Schwartz CE, Stevenson RE. The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome. Best Pract Res Clin Endocrinol Metab. Jun;21(2):307-21, 2007. Review.
• Abidi FE, Miano MG, Murray JC, Schwartz CE. A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate. Clin Genet. 72:19-22, 2007.
• Tarpey PS, Raymond FL, Nguyen LS, Rodriguez J, Hackett A, Vandeleur L, Smith R, Shoubridge C, Edkins S, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Hills K, Jones D, Mironenko T, Perry J, Varian J, West S, Widaa S, Teague J, Dicks E, Butler A, Menzies A, Richardson D, Jenkinson A, Shepherd R, Raine K, Moon J, Luo Y, Parnau J, Bhat SS, Gardner A, Corbett M, Brooks D, Thomas P, Parkinson-Lawrence E, Porteous ME, Warner JP, Sanderson T, Pearson P, Simensen RJ, Skinner C, Hoganson G, Superneau D, Wooster R, Bobrow M, Turner G, Stevenson RE, Schwartz CE, Futreal PA, Srivastava AK, Stratton MR, Gécz J. Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nat Genet. 39:1127-33, 2007.
• Wu Y, Arai AC, Rumbaugh G, Srivastava AK, Turner G, Hayashi T, Suzuki E, Jiang Y, Zhang L, Rodriguez J, Boyle J, Tarpey P, Raymond FL, Nevelsteen J, Froyen G, Stratton M, Futreal A, Gecz J, Stevenson R, Schwartz CE, Valle D, Huganir RL, Wang T. Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans. Proc Natl Acad Sci U S A. 104:18163-18168, 2007.
• Bhat SS, Ladd S, Grass F, Spence JE, Brasington CK, Simensen RJ, Schwartz CE, Dupont BR, Stevenson RE, Srivastava AK. Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism. Clin Genet. 73:94-96, 2008.