name: charles edward schwartz address: (office) · 2020. 1. 2. · major - chemistry b.a. - 1970...

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NAME:

ADDRESS: (Office):

EDUCATION:

POSITIONS:

Charles Edward Schwartz

JC Self Research Institute Greenwood Genetic Center 113 Gregor Mendel Circle Greenwood, SC 29646

Colgate University (Hamilton, NY)

Major - Chemistry

B.A. - 1970

Oklahoma State University (Stillwater, OK) Major - Biochemistry M.S. - 1972

Vanderbilt University (Nashville, TN) Major - Biochemistry Ph.D. - 1978

Research Assistant Long Island Jewish Hospital Hillside Medical Center New Hyde Park, New York 1972-1974

NCI Postdoctoral Fellow University of Vermont Department of Biochemistry Burlington, Vermont 1978-1980

Research Scientist La Jolla Cancer Research Foundation La Jolla, California 1980-1981

NIH Postdoctoral Fellow Division of Hematology/Oncology University of Utah School of Medicine Salt Lake City, Utah 1981-1983

Research Associate Department of Human Genetics University of Utah School of Medicine Salt Lake City, Utah 1983-1985

Director, Molecular Genetics Laboratory Greenwood Genetic Center Greenwood, SC 29646 July, 1985-December 1995

Last Updated on 02/08/16 at 10:42 AM

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Adjunct Associate Professor of Biological Sciences 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

Director, Center for Molecular Studies J.C. Self Research InstituteGreenwood Genetic CenterGreenwood, South Carolina 29646January 1996-present

Adjunct Professor, Department of Genetics and Biochemistry Clemson University Clemson, SC 2001-present

Director, J.C. Self Research Institute Greenwood Genetic Center Greenwood, South Carolina 29646 January 2004-present

Clinical Rotation Faculty Master of Science Genetic Counseling Program Department of Obstetrics and Gynecology School of Medicine University of South Carolina Columbia, SC July 2004-present

PROFESSIONAL ACTIVITY/ Member COMMITTEES International Union Against Cancer

Committee on the Immunodiagnosis of Cancer 1983-1986

Co-Chairman DNA Committee SERGG 1988-1990

Chairman DNA Committee SERGG 1990-1992

Member, OCLG Steering Committee DNA Section 1991-1993


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American Board of Medical Genetics Director, Clinical Molecular Genetics January 2006-present Treasurer January 2007-December 2007 President Elect January 2008-December 2008 President January 2009-December 2009

APPOINTMENTS: Visiting Research Scientist Institut de Pathologie Moleculaire Inserm U. 129 Hopital Cochin Paris 75014 France March 1 - June 1 1985

Visiting Lecturer Human Genetics Universidad Central del Caribe Escuela de Medicine Cayey, Puerto Rico December 1987

Visiting Scientist Departmento de Zootecnia ESALQ-USP Piracicaba, Brazil July- August, 1996

Visiting Senior Scientist INSERM U491 Hopital La Timone Marseille, France July 1998–June 1999

CERTIFICATION: Diplomate, American Board of Medical Genetics (Molecular Genetics) 1993

PROFESSIONAL SOCIETIES: Phi Society New York Academy of Science International Society for Oncodevelopmental Biology

and Medicine American Society of Human Genetics European Society of Human Genetics International Mammalian Genome Society Nov. 1993 Fellow, American College of Medical

Genetics

AWARDS: Professional of the Year, SC Chapter of the American Association on Mental Retardation, November 8, 2002

Robert Guthrie Award for Advances in Biochemical and Molecular Genetics, American Association of Mental Retardation, May 23, 2003.


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BOOKS:

1. Schwartz CE, Norton L, McKay K, Krall J, Kay D, Lynch RE: Does the content of superoxidedismutase in E. Coli affect resistance to killing by neutrophils? In OXY Radicals and TheirScavenger Systems (RA Greenwald and G Cohen, eds.), Cellular and Medical Aspects Vol II: 86-91, 1983.

2. Schwartz CE, Skolnick MH: Mapping the human genome using restriction fragment lengthpolymorphism (RFLPs). In Genetica Molecula, Instituto Ciencias del Hombre, Madrid, Chapter 8,pp. 151-166, 1985.

3. Schwartz CE, Brown AM, Der Kaloustian VM, McGill JJ, Saul RA: DNA finger-printing: Theutilization of minisatellite probes to detect a somatic mutation in the Proteus syndrome. DNAFingerprinting: Approaches and Applications, (T Burke, G Dolf, AJ Jeffreys, R Wolff, eds), pp. 95-105, 1991.

4. Schwartz CE, Lubs HA, Arena JF, Stevenson RE: Evidence that distinct regions on the Xchromosome have a high concentration of genes causing mental retardation in BiologicalPsychiatry, Vol 2, (G. Racagni et al, editors), pp. 481-484, 1991.

5. Stevenson RE, Schwartz CE, Schroer RJ: X-linked mental retardation. 2000.

6. Schwartz C: Renpenning Syndrome. The Gale Encyclopedia of Genetic Disorders. Stacey L.Blachford, Editor. Farmington Hills, Mich.: Gale Group, 2001.

7. Schwartz C: Sutherland-Haan Syndrome. The Gale Encyclopedia of Genetic Disorders. StaceyL. Blachford, Editor. Farmington Hills, Mich.: Gale Group, 2001.

8. Schwartz C: Allan-Herndon-Dudley Syndrome. Orphanet Encyclopedia, May 2001:http://orphanet.infobiogen.fr/data/patho/uk-allan.html.

9. Schwartz CE, Stevenson RE: The MCT8 thyroid hormone transporter and Allan-Herndon-Dudleysyndrome. Best Practice & Research: Clinical Endocrinology & Metabolism, 2007: 21:307-321.

10. Schwartz CE: PQBP1 and the Renpenning, Sutherland-Haan, Golabi-Ito-Hall, and HamelCerebropalatocardiac and XLMR Syndromes and Nonsyndromic XLMR. Inborn Errors ofDevelopment, Second Edition, edited by Charles J. Epstein, Robert P. Erickson, and AnthonyWynshaw-Boris, 2008, pp. 1177-1185.

11. Stevenson RE, Schwartz CE, Rogers RC: Atlas of X-Linked Intellectual Disability Syndromes.2012.

PUBLICATIONS:

1. Greenwald RA and Schwartz C: Complex formation between lysozyme and cartilageproteoglycans. Biochemica et biophysica. Acta 359:66-72, 1974.

2. Greenwald RA, Schwartz CE, Cantor JO: Interaction of cartilage proteoglycans with collagen-substituted agarose gels. Biochem J 145:601-605, 1975.

http://orphanet.infobiogen.fr/data/patho/uk-allan.html


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3. Greenwald RA, Cantor JO, Schwartz CE, Josephson AS: Effects of acute cartilaginous injury on serum and cartilage lysozyme levels. Arthritis and Rheumatism18:139-144, 1975.

4. Schwartz CE, Hellerqvist CG, Cunningham LW: A collagenous component of the microexudate

carpet secreted by attaching human fibroblasts. Ann NY Acad Science 312:450-452, 1978.

5. Schwartz CE, Hoffman L, Hellerqvist CG, Cunningham LW: Scanning electron microscope visualization of a microexudate prepared by the release of cells by urea. Exp Cell Res 118:427-430, 1979.

6. Commer P, Schwartz C, Tracy S, Tamaoki T, Chiu JF: Dexamethasone inhibits alpha-fetoprotein

gene expression in developing mouse liver. Biochem Biophys Res Commun 89:1294-1299, 1979.

7. Schwartz CE, Hellerqvist CG, Cunningham LW: Attaching human fibroblasts secrete a type I procollagen rich in 3-hydroxyproline. Biochem Biophys Res Commun 90:240-246, 1979.

8. Chiu JF, Massari RJ, Schwartz CE, Meisler NT, Thomassi JW: Hormonal modulation of alpha-

fetoprotein gene expression in newborn rat livers. Nucleic Acid Res 9:6917-6933, 1981.

9. Oldberg A, Schwartz C, Rusolahti E: Isolation and partial characterization of a rat hepatoma heparan sulfate proteoglycan. Arch Biochem Biophys 216:400-406, 1982.

10. Schwartz CE, Gabrzelak T, Smith CJ, Taylor JM, Chiu JF: The expression of alpha-fetoprotein

and albumin genes in rat liver during chemical carcinogenesis. Biochem Biophys Res Commun 107:239-245, 1982.

11. Schwartz CE, Burkhardt AL, Huand DP, Chiu JF: The effects of dexamethasone on a alpha-

fetoprotein and albumin synthesis in cultured hematoma 7777 cells. Bioscience Reports 2:777-784, 1982.

12. Jacobson JA, Schwartz CE, Marshall HW, Conti M, Burke JP: Fever, chills and hypotension

following cardiac catherization with single- and multiple-use disposable catheters. Cathet Cardiovasc Diagn 9:39-46, 1983.

13. Chiu JF, Huang DP, Burkhardt AL, Cote G, Schwartz CE: The alteration of gene expression in

rat liver during chemical carcinogenesis. Arch Biochem Biophys 222:310-320, 1983.

14. Schwartz CE, Ruoslahti E: Concurrent modulation of cell surface fibronectin and adhesion to fibronectin in hepatoma cells. Exp Cell Res 143:456-461, 1983.

15. Schwartz CE, Krall J, Norton L, McKay K, Kay D, Lynch RE: Catalase and superoxide dismutase

in Escherichia coli: Roles in resistance to killing by neutrophils. J Biol Chem 258:6277-6281, 1983.

16. Huang DP, Schwartz CE, Chiu JF, Cook JR: Dexamethasone inhibition of rat hepatoma growth

and alpha-fetoprotein synthesis. Cancer Res 44:2976-2980, 1984. 17. Bock SC, Harris JF, Schwartz CE, Ward JH, Hershgold H, Skolnick MH: Hereditary thrombosis in

a Utah kindred is caused by a dysfunctional antithrombin III gene. Am J Hum Genet 37:32-41, 1985.

18. Cook JR, Schwartz CE, Fausel ED, Chiu JF: Effect of sodium butyrate on alpha-fetoprotein gene

expression in rat hepatoma cells in vitro. Cancer Res 45:3215-3219, 1985.


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19. Taggard RT, Samloff IM, Graham A, Cass C, Raffel LJ, Rotter JJ, Petersen, Skolnick MH,Schwartz CE, Bell GI: Relationships between the human pepsinogen DNA and proteinpolymorphisms. Am J Hum Genet 38:848-854, 1986.

20. Dietz JN, Robbins T, Cannon LA, Schwartz CE, Carey JC, Johnson JP, Kivlin J, Skolnic MH:Linkage analysis of Von Recklinghausen neurofibromatosis: Chromosomes 4 and 19. GenetEpidemiol 3:313-321, 1986.

21. Schwartz CE, McNally E, Leinwand L, Skolnick MH: A polymorphic human myosin heavy chainlocus is linked to an anonymous single copy locus (D17S1) at 17p13. Cytogenet Cell Genet43:117-120, 1986.

22. Willard HF, Wayne JS, Skolnick MH, Schwartz CE, Powers VE, England SB: Detection ofrestriction fragment length polymorphism at centromeres of human chromosomes by usingchromosome-specific alpha satellite DNA probes: Implications for development of centromere-based genetic linkage maps. Proc. Natl. Acad. Sci. 83:5611-5615, 1986.

23. Schwartz C, Fitch N, Phelan MC, Richer CL, Stevenson R: Two sisters with a distal deletion atthe Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present. HumGenetics 76:54-57, 1987.

24. Schwartz C and Barjon P: New RFLPs at the DXS164 (pERT 87-8) locus in the black population.Nuc. Acid. Res. 15:862, 1987.

25. Schwartz CE: Biochemical and immunologic diagnosis of cancer: Genetic markers. Tumour Biol8:170-176, 1987.

26. Patterson M, Schwartz C, Bell M, Sauer S, Hofker M, Trask B, van den Engh G, Davies K:Physical mapping studies on the human X chromosome in the region Xq27-Xqter. Genomics1:297-306, 1987.

27. Schwartz CE, Phelan MC, Brightharp C, Pancoast I, Howard-Peebles PN, Thibodeau S, BrownWT, Jenkins EC: Fragile X syndrome: Linkage analysis in black and white populations. Am JMed Genet 30:531-542, 1988.

28. Schwartz CE, Phelan MC, Pulliam LH, Wilkes G, Vanner LV, Albiez KL, Potts WA, Rogers RC,Schroer RJ, Saul RA, Prouty LA, Dean JH, Taylor HA, Stevenson RE: Fragile X syndrome:Incidence, clinical and cytogenetic findings in the black and white populations of South Carolina.Am J Med Genet 30:641-654, 1988.

29. Patterson M, Bell M, Schwartz C, Davies K: Pulsed-field gel mapping studies in the vicinity of thefragile site at Xq27.3. Am J Med Genet 30:581-592, 1988.

30. Brown WT, Gross A, Chan C, Jenkins EC, Mandel J-L, Oberle I, Arveiler B, Novelli G, ThibodeauS, Hagerman R, Summers K, Turner G, White BN, Mulligan L, Forster-Gibson C, Holden JJA, ZollB, Krawczuk M, Goonewardena P, Gustavson KH, Pettrsson U, Holmgren G, Schwartz C,Howard-Peebles PN, Murphy P, Breg WR, Veenema H, Carpenter NJ: Multi-locus analysis of thefragile X syndrome. Hum Genet 78:201-205, 1988.

31. Prouty LA, Rogers RC, Stevenson RE, Dean JH, Palmer KK, Simensen RJ, Coston GN,Schwartz CE: Fragile X syndrome: growth, development and intellectual function. Am J MedGenet 30:123-142, 1988.

32. Phelan MC, Prouty LA, Stevenson RE, Howard-Peebles PN, Page DC, Schwartz CE: Theparental origin and mechanism of formation of three dicentric X chromosomes. Hum Genet80:81-84, 1988.


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33. Atkin CL, Hasstedt SJ, Menlove L, Cannon L, Kirschner N, Schwartz C, Nguyen K, Skolnick M:Mapping of Alport syndrome to the long arm of the X chromosome. Am J Hum Genet 42:249-255, 1988.

34. Butler WJ, Schwartz CE, Sauer SM, Wilson JT, McDonough PG: Discordance indeoxyribonucleic acid analysis of fetus and trophoblast. Am J Obstet Gynecol 158:642-645, 1988.

35. Schwartz CE, Johnson JP, Holycross B, Mandeville RM, Sears TS, Graul EA, Carey JC, SchroerRJ, Phelan MC, Szollar J, Flannery DB, Stevenson RE: Detection of submicroscopic deletions inband 17p13 in patients with the Miller-Dieker syndrome. Am J Hum Genet 43:597-604, 1988.

36. Sauer SM, Phelan MC, Richer CL, Fitch N, Schwartz CE: Physical mapping of probes proximalto the fragile X locus (FRAX) confirms the order F9-DXS105 (cX55.7)-XS98(4D8)-FRAXA.Cytogenet Cell Genet 50:172-173, 1989.

37. Barjon P, Schwartz C: New TaqI RFLPs at the DXS52 (St14) locus in the black population. Nuc-Acid Res 17:2149, 1989.

38. Patterson MN, Bell MV, Bloomfield J, Flint T, Dorkins H, Thibodeau SN, Schard D, Bren G,Schwartz CE, Wierinqa B, Ropers H-H, Callen DF, Sutherland G, Froster-Iskenius U, Vissing H,Davies KE: Genetic and physical mapping of a novel region close to the fragile X site on thehuman X chromosome. Genomics 4:570-578, 1989.

39. Kaufman KM, Snider JV, Spurr NK, Schwartz CE, Sodetz JM: Chromosomal assignment ofgenes encoding the alpha, beta and gamma subunits of human complement protein C8:Identification of a close physical linkage between the alpha and beta loci. Genomics 5:475-480,1989.

40. Fagg WR, Timoneda J, Schwartz CE, Langeveld JP, Noelken ME, Hudson BG: Glomerularbasement membrane: evidence for collagenous domain of the alpha 3 and alpha 4 chains ofcollagen IV. Biochem Biophys Res Commun 170(1):322-327, 1990.

41. Trask B, van den Engh G, Nussbaum R, Schwartz C, Gray J: Quantification of the DNA contentof structurally abnormal X chromosomes and X chromosome aneuploidy using high resolutionbivarate flow karyotyping. Cytometry 1:184-195, 1990.

42. Schwartz CE, Sauer SM, Brown AM, Divelbliss JE, Patil SR: Localization of the Miller-Dickercritical region is proximal to locus D17S34 (p144D6) in 17p13.3. Genomics 7:621-624, 1990.

43. Suthers GK, Hyland VJ, Cullen DF, Oberle I, Rocchi M, Thomas NS, Morris CP, Schwartz CE,Schmidt M, Ropers HH, Baker E, Oostran BA, Ahl N, Wilson PJ, Hopwood JJ, Sutherland GR:Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel ofcell lines. Am J Hum Genet 47:187-195, 1990.

44. Schwartz C: PstI RFLP at the MYH2 locus on chromosome 17. Nuc. Acids Res. 18:2837, 1990.

45. Stevenson RE, Goodman HO, Schwartz CE, Simensen RJ, McLean WT, Herndon CN: Allan-Herndon syndrome I. Clinical studies. Am J Hum Genet 47:446-453, 1990.

46. Schwartz CE, Ulmer J, Brown A, Pancoast I, Goodman HO, Stevenson RE: Allan-Herndonsyndrome II. Linkage to DNA markers in Xq21. Am J Hum Genet 47:454-458, 1990.

47. Hirst MC, Bell MV, Mackinnon R, Watson JEV, Callen D, Sutherland G, Dahl N, Patterson MN,Schwartz C, Ledbetter D, Ledbetter S, Davies KE: Mapping of a cerebellar degenention relatedprotein and DXS304 around the fragile site. Am J Med Genet 38:354-356, 1991.


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48. Ledbetter SA, Schwartz CE, Davies KE, Ledbetter DH: New somatic cell hybrids for physicalmapping in distal Xq and the fragile X region. Am J Med Genet 38:418-420, 1991.

49. Fisch GS, Arinami T, Froster-Iskenius U, Fryns JP Curfs LM, Borghgrael M, Howard-Peebles PN,Schwartz CE, Simensen RJ, Shapiro LR: The relationship between age and IQ among fragile Xmales: A multicenter study. Am J Med Genet 38:481-487, 1991.

50. Tarleton J, Schwartz CE: Using the polymeruse chain reaction to maintain DNA probeinventories in clinical and diagnostic laboratories. Clin Genet 39:121-124, 1991.

51. Schwartz CE, Stanislovits P, Phelan MC, Klinger K, Taylor HA, Stevenson RE: Deletion mappingof plasminogen activator inhCytogenet Cell Genet 56:152-153, 1991.

52. Suthers GK, Mulley JC, Voelckel MA, Dahl N, Vaisanen ML, Steinback P, Glass IA, SchwartzCE, van Oost BA, Thibodeau SN, Haites NE, Oostra BA, Gine R, Carballo M, Morris CP,Hopwood JJ, Sutherland GR: Genetic mapping of new DNA probes at Xq27 defines a strategy forDNA studies in the fragile X syndrome. Am J Hum Genet 48:460-467, 1991.

53. Suthers GK, Mulley JC, Voelckel MA, Dahl N, Vaisanen ML, Steinbach P, Glass IA, SchwartzCE, van Oost BA, Thibodeau SN, Hartes NE, Oostra BA, Schinzel A, Carballo M, Morris CP,Hopwood JJ, Sutherland GR: Linkage homogeneity near the fragile X locus in normal and fragileX families. Genomics 10:576-582, 1991.

54. Henry I, Bonaiti-Pellie C, Chehensse V, Beldjord C, Schwartz C, Utermann G, Junien C.Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature 351:665-667,1991.

55. Schwartz CE, Haber DA, Stanton VP, Strong LC, Skolnick MH, Housman DE: Familialpredisposition to Wilms tumor does not segregate with the WTI gene. Genomics 10:927-930,1991.

56. Tarleton JC, Schwartz CE: The use of a new multiplex PCR assay significantly improves therapid detection of deletions in the dystrophin gene. Am J Hum Genet 49:461-462, 1991.

57. Nakahori Y, Hirst MC, Knight SJL, Holland J, Schwartz C, Roche A, Tarleton J, Wong S, Flint TJ,Froster-Iskenius U, Bentley D, Davies KC: Molecular heterogeneity of the fragile X syndrome.Nuc Acid Res 19:4355-4359, 1991.

58. Hirst MC, Nakahori Y, Knight SJL, Schwartz C, Thibodeau SN, Roche A, Flint TJ, Connor JM,Fryns J-P, Davies KE: Genotype prediction in the fragile X syndrome. J Med Genet 28:824-829,1991.

59. Epting S, Schwartz C: Genetic linkage analysis places locus DXS250 between locus DXYS1 andlocus DXS3 in Xq21.3. Cytogenet Cell Genet 60:112-113, 1992.

60. Fisch GS, Shapario LR, Simensen R, Schwartz CE, Fryns J-P, Borghgraef M, Curfs LM,Howard-Peebles PN, Arinami T, Mavrou A: Longitudinal changes in IQ among fragile X males:Clinical evidence of more than one mutation. Am J Med Genet 43:28-34, 1992.

61. Schwartz CE, May M, Huang T, Ledbetter D, Anderson G, Barker DR, Lubs HA, Arena F,Stevenson RE: MRX8: An X-linked mental retardation condition with linkage to Xq21. Am J MedGenet 43:467-474, 1992.


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62. Arena JF, Schwartz C, Stevenson R, Lawrence L, Carpenter A, Duara R, Ledbetter D, Huang T,Lehner T, Ott J, Lubs HA: Spastic paraplegia with iron deposits in the basal ganglia: A new X-linked mental retardation syndrome. Am J Med Genet 43:479-490, 1992.

63. Bialer MG, Lawrence L, Stevenson RE, Silverberg G, Williams MK, Arena JF, Lubs HA,Schwartz CE: Allan-Herndon-Dudley syndrome: Clinical and linkage studies in a second family.Am J Med Genet 43:491-497, 1992.

64. Richards RI, Holman K, Friend K, Kremer E, Hillen D, Staples A, Brown WT, Goonewardena P,Tarleton J, Schwartz C, Sutherland GE: Evidence of founder chromosomes in fragile Xsyndrome. Nature Genetics 1:257-260, 1992.

65. Tarleton J, Wong S, Hertz D, Schwartz C: Difficult diagnosis of the fragile X syndrome madepossible by direct detection of DNA mutations. J Med Genet 29:726-729, 1992.

66. Tarleton J, Wong S, Schwartz C: Direct analysis of the FMR-1 gene provides an explanation foran exceptional case of a fragile X negative-mentally retarded male in a fragile X family. J MedGenet 29:919-920, 1992.

67. Siden TS, Kumlien J, Schwartz CE, Rohme D: Radiation fusion hybrids for human chromosomes3 and X generated at various irradiation doses. Somatic Cell and Mol Genet 18:33-44, 1992.

68. Tharapel AT, Anderson KP, Simpson JL, Martens PR, Wilroy RS, Llerena JC, Schwartz CE:Deletion (X)(q26.1-q28) in a proband and her mother: Molecular characterization and phenotypic-karyotypic deductions. Am J Hum Genet 52:463-471, 1993.

69. Schwartz CE: Invited Editorial: XLMR: In pursuit of a gene map. Am J Hum Genet 52:1025-1031,1993.

70. Iannetti P, Schwartz CE, Dietz-Band J, Light E, Timmerman J, Chessa L: Norman-RobertsSyndrome: Clinical and molecular studies. Am J Med Genet 47:95-99, 1993.

71. Boyd E, Schwartz CE, Schroer RJ, May MM, Shapiro SD, Arena JF, Lubs HA, Stevenson RE:Agenesis of the corpus callosum associated with MASA syndrome. Clin Dysmorphol 2:332-341,1993.

72. Tarleton J, Richie R, Schwartz C, Rao K, Aylsworth AS, Lachiewiez A: An extensive de novodeletion removing FMR1 in a patient with mental retardation and the fragile X syndromephenotype. Hum Mol Genet 2:1973-1974, 1993.

73. Vits L, van Camp G, Coucke P, Wilson G, Schrander-Stumpel C, Lyonnet S, Munnich A,Schwartz C, Willems PJ: MASA syndrome is due to mutations in the neural cell adhesive geneL1CAM. Nature Genetics 71: 408-413, 1994.

74. Wang Y, Treat K, Schroer RJ, O'Brien JE, Stevenson RE, Schwartz CE: Localization of brachio-oto-renal (BOR) syndrome to a 3Mb region of chromosome 8q. Am J Med Genet 51:169-175,1994.

75. Rohme D, Siden T, van der Maarel S, Cremers FPM, Tantravaki U, Marinoni J-C, Schwartz C:Radiation on hybrids for the proximal long arm of the X chromosome and their use in thederivation of an ordered set of cosmid markers from a defined subregion in proximal Xq13.1.Somat Cell Mol Genet 20:1-10, 1994.

76. Marinoni J-C, Boyd E, Sherman S, Schwartz C: Familial split hand/split foot long bone deficiencydoes not segregate with markers linked to the SHFDl locus in 7q12.3-q22.1. Hum Mol Genet3:1355-1357, 1994.


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77. Albright SG, Lachiewicz AM, Tarleton JC, Rao KW, Schwartz CE, Richie R, Tennison MB,Aylsworth AS: Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28. Am JMed Genet 51:294-297, 1994.

78. Schwartz CE, Dean J, Howard-Peebles PN, Bugge M, Mikkelsen M, Tommerup N, Hull C,Hagerman R, Holden JJA, Stevenson RE: Obstetrical and gynecological complications in fragileX carriers: A multicenter study. Am J Med Gen 51:400-402, 1994.

79. Sherman SL, Maddalena A, Howard-Peebles PN, Brown WT, Nolin S, Jenkins E, Schwartz C,Tarrelton J, Shapiro LR, Smits APT, van Oost BA, Youings S, Jacobs PA, Martinez F, BarnicoatA, Hockey A, Staley L, Hagerman R, Kennerknecht I, Steinback P, Barbi G, Filippi G, Grasso M,Taylor SAM, Robinson H, Webb T, Broome D, Dixon J, Ferreira P, Gustovson K-H, Meyer JL, PaiGS: Characteristics of the transmission of the FMR1 gene from carrier females in a prospectivesample of conceptuses. Am J Med Genet 51:503-506, 1994.

80. Stevenson RE, Schwartz CE, Arena JF, Lubs HA. X-linked mental retardation: The early erafrom 1943-1969. Am J Med Genet 51:538-541, 1994.

81. Stevenson RE, May M, Arena JF, Millar EA, Scott CI Jr, Schroer RJ, Simensen RJ, Lubs HA,Schwartz CE: Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region ofthe X chromosome. Am J Med Genet 52:339-345, 1994.

82. Pasteris NG, Cadle A, Logie LJ, Porteous M, Schwartz CE, Stevenson RE, Glover TW, WilroyRS, Gorski JL: Isolation and characterization of the Faciogenital dysplasia (Aarskog-Scottsyndrome) gene: a putative rho/rac guanine nucleotide exchange factor. Cell 79: 669-678, 1994.

83. May M, Colleaux L, Murgia A, Aylsworth A, Nussbaum R, Fontes M, Schwartz C: Molecularanalysis for four males with mental retardation and deletions of Xq21 places the putative MRregion in Xq21.1 between DXS233 and CHM. Hum Mol Genet 4:1465-1466, 1995.

84. Marinoni J-C, Stevenson RE, Phelan MC, Schwartz CE: Split foot and developmentalretardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1. ClinicalGenet 47:90-95, 1995.

85. Tranebjaerg L, Schwartz C, Eriksen H, Andreasson S, Ponjavic V, Dahl Al, Stevenson RE, MayM, Arena F, Barker D, Elverland HH, Lubs H: A new X linked recessive deafness syndrome withblindness, dystonia, fractures, and mental deficiency is linked to Xq22. J Med Genet 32:257-263,1995.

86. Brown A, Phelan MC, Patil S, Crawford E, Rogers RC, Schwartz CE: Two patients withduplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion? Am J Med Genet63: 373-377, 1996.

87. Colleaux L, May M, Belougne J, Lepaslier D, Schwartz CE, Fontes M: Localization of twocandidate genes for mental retardation using a YAC physical map on the Xq21.1-21.2 sub-bands.J Med Genet 33: 353-357, 1996.

88. 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, Tsipouras P: A Split Hand-Split Foot

(SHFM3) gene is located on chromosome 10q2425. Am J Med Genet 62: 427-436, 1996.

89. Häne B, Schroer RJ, Arena JF, Lubs HA, Schwartz CE, Stevenson RE: Nonsyndromic X-linkedmental retardation: Review and mapping of MRX29 to Xp21. Clin Genet 50: 176-183, 1996.


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90. Lubs HA, Schwartz CE, Stevenson RE, Arena JF: Study of X-linked mental retardation (XLMR):Summary of 61 families in the Miami/Greenwood study. Am J Med Genet 64:169-175, 1996.

91. Lubs HA, Chiurazzi P, Arena JF, Schwartz CE, Tranebjaerg L, Neri G: XLMR Genes: Update1996. Am J Med Genet 64:147-157, 1996.

92. Arena JF, Schwartz CE, Ouzts L, Stevenson RE, Miller M, Garza J, Nance M, Lubs H: X-Linkedmental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage To Xp21.3-p22.12.Am J Med Genet 64:50-8, 1996.

93. 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 forneural tube defects. Am J Med Genet 63:610-614, 1996.

94. Jin H, May M, Tranebjaerg L, Kendall E, Fontán G, Jackson J, Subramony SH, Arena F, Lubs H,Smith S, Stevenson R, Schwartz C, Vetrie D: A novel X-linked gene, DDP, shows mutations infamilies with deafness (DFN-1), dystonia, mental deficiency and blindness. Nat Genet 14:177-180, 1996.

95. Stevenson RE, Schwartz CE, Du Y-Z, Adams MJ: Differences in methylenetetrahydrofolatereductase genotype frequencies between whites and blacks. Am J Hum Genet 60:229-230,1997.

96. May M, Huston S, Wilroy RS, Schwartz C: Linkage analysis in a family with the Opitz GBBBsyndrome refines the location of the gene in Xp22 to a 4cM region. Am J Med Genet 68:244-248,1997.

97. Pai GS, Häne B, Joseph M, Nelson R, Hammond LS, Arena JF, Lubs HA, Stevenson RE,Schwartz CE: A new X-linked recessive syndrome of mental retardation and mild dysmorphismmaps to Xq28. J Med Genet 34:529-534, 1997.

98. Stevenson RE, Häne B, Arena JF, May M, Lawrence LK, Lubs HA, Schwartz CE: Archfingerprints, hypotonia, and are flexia associated with X-linked mental retardation. J Med Genet34:465-469, 1997.

99. Villard L, Lossi A-M, Cardoso C, Proud V, Chiaroni P, Colleaux L, Schwartz C, Fontés M:Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc fingerhelicase. Genomics 43: 49-155, 1997.

100. Berg JN, Gallione CJ, Stenzel TT, Johnson DW, Allen WP, Schwartz CE, Jackson CE, PorteousMEM, Marchuk DA: The activin receptor-like kinase 1 gene: Genomic structure and mutations inhereditary hemorrhagic telangiectasia type 2. Am J Hum Genet 61:60-67, 1997.

101. Plenge RM, Hendrich BD, Schwartz C, Arena JF, Naumova A, Sapienza C, Winter RM, WillardHF: A promoter mutations in the XIST gene in two unrelated families with skewed X chromosomeinactivation. Nature Genet 17:353-356, 1997.

102. Du Y-Z, Srivastava AK, Schwartz CE: Multiple exon screening using restriction endonucleasefingerprinting (REF): Detection of six novel mutations in the L1 cell adhesion molecule (L1CAM)gene. Hum Mutation 11:222-230, 1998.

103. Rasmussen SA, Coleman SD, Ho VT, Abernathy CR, Arn PH, Weiss L, Schwartz C, Saul RA,Wallace MR: Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1. JMed Genet 35:468-471, 1998.


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104. Stevenson RE, Arena JF, Ouzts E, Gibson A, Shokeir MH, Vnencak-Jones C, Lubs HA, May M, Schwartz CE: Renpenning syndrome maps to Xp11. Am J Hum Genet 62: 1092-1101, 1998.

105. Du Y-Z, Dickerson C, Aylsworth A, Schwartz CE: A silent mutation, C924T (G308G), in the

L1CAM gene results in X linked hydrocephalus (HSAS). J Med Genet 35:456-462, 1998. 106. Ashley-Koch AE, Robinson H, Glicksman AE, Nolin SL, Schwartz CE, Brown WT, Turner G,

Sherman SL: Examination of factors associated with instability of the FMR1 CGG repeat. Am J Hum Genet 63:776-785, 1998.

107. Graham JM, Tackels D, Dibbern K, Supernette D, Rogers C, Corning K, Schwartz CE: FG

syndrome: report of three new families with linkage to Xq12-q22.1. Am J Hum Genet 80:145-156, 1998.

108. Michaelis RC, Du YZ, Schwartz CE: The site of a missense mutation in the extracellular Ig or FN

domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus. J Med Genet 35:901-904, 1998.

109. Johnson JP, Nelson R, Schwartz CE: A family with mental retardation, variable macrocephaly,

and macro-orchidism and linkage to Xq12-q21. J Med Genet 35:1026-1030, 1998. 110. Smith RJH and Schwartz C: Branchio-Oto-Renal syndrome. J Commun Disord 31: 411-421,

1998. 111. Gunter C, Paradee W, Crawford DC, Meadows KA, Newman J, Kunst CB, Nelson DL, Schwartz

C, Murray A, Macpherson JN, Sherman SL, Warren ST: Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1. Hum Mol Genet 7:1935-1946, 1998.

112. Weitkamp LR, Tackels DC, Hunter AG, Holmes LB, Schwartz CE: Heterozygote advantage of

the MTHFR gene in patients with neural-tube defect and their relatives. Letter. Lancet 351:1554-1555, 1998.

113. Lubs H, Chiurazzi P, Arena J, Schwartz C, Tranebjaerg L, Neri G: XLMR genes: Update 1998.

Am J Med Genet 83:237-247, 1999. 114. Schuback DE, Mulligan EL, Sims KB, Tivol EA, Greenberg BD, Chang SF, Yang SL, Mau YC,

Shen CY, Ho MS, Yang NH, Butler MG, Fink S, Schwartz CE, Berlin F, Breakefield XO, Murphy DL, Hsu YP: Screen for MAOA mutations in target human groups. Am J Med Genet 88:25-28, 1999.

115. Abidi F, Jacquot S, Lassiter C, Trivier E, Hanauer A, Schwartz CE: Novel mutations in RSK2, the

gene for Coffin-Lowry syndrome (CLS). Eur J Hum Genet 7:20-26, 1999. 116. Häne BG, Rogers RC, Schwartz CE: Germline mosaicism in X-linked myotubular myopathy. Clin

Genet 56:77-81, 1999. 117. Plenge RM, Tranebjaerg L, Jensen PKA, Schwartz C, Willard HF: Evidence that mutations in the

X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation. Am J Hum Genet 64:759-767, 1999.

118. Cabezas DA, Arena JF, Stevenson RE, Schwartz C, Goldberg S, Morales A, Lubs HA: XLMR

Database. Am J Med Genet 85:202-205, 1999. 119. Tackles D, Schwartz CE, Carpenter NJ, Miles JH: Letter to the Editor: Refined gene localization

for the Miles-Carpenter syndrome (MCS). Am J Med Genet 85:221-222, 1999.


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120. Abidi F, Hall BD, Cadle RG, Feldman GL, Lubs HA, Ouzts LV, Arena JF, Stevenson RE,Schwartz C: X-linked mental retardation with variable stature, head circumference, and testicularvolume linked to Xq12-q21. Am J Med Genet 85:223-229, 1999.

121. Armfield K, Nelson R, Lubs HA, Häne B, Schroer RJ, Arena F, Schwartz CE, Stevenson RE: X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleftpalate, and glaucoma is linked to Xq28. Am J Med Genet 85:236-242, 1999.

122. Lubs H, Abidi F, Bier JB, Abuelo D, Ouzts L, Voeller K, Fennell E, Stevenson RE, Schwartz CE,Arena F: XLMR syndrome characterized by multiple respiratory infections,hypertelorism, severeCNS deterioration and early death localizes to distal Xq28. Am J Med Genet 85:243-248, 1999.

123. Chudley AE, Tackles DC, Lubs HA, Arena JF, Stoeber WP, Kovnats S, Stevenson RE, SchwartzCE: X-linked mental retardation syndrome with seizures, hypogammaglobulinemia, andprogressive gait disturbance is regionally mapped between Xq21.33 and Xq23. Am J Med Genet85:255-262, 1999.

124. Häne B, Stevenson RE, Arena JF, Lubs HA, Simensen RJ, Schwartz CE: Gene for apparentlynonsyndromic X-linked mental retardation (MRX32) maps to an 18 Mb region of Xq21.2-p22. AmJ Med Genet 85:271-275, 1999.

125. Tackles D, Schwartz CE, Thibodeau SN, Michels VV: Refined gene localization for MRX7. Am JMed Genet 85:288-289, 1999.

126. Tackels D, Schwartz CE: Refined gene localization for MRX8. Am J Med enet 85:309-10, 1999.

127. Seroussi E, Kedra D, Hua-Qin P, Peyrard M, Schwartz C, Scambler P, Donnai D, Roe BA,Dumanski JP: Duplications on human chromosome 22 reveal a novel ret finger protein-like genefamily with sense and endogenous antisense transcripts. Genome Research 9:803-814, 1999.

128. Christianson AL, Stevenson RE, van der Meyden CH, Pelser J, Theron FW, van Rensburg PL,Chandler M, Schwartz CE: X linked severe mental retardation, craniofacial dysmorphology,epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised toXq24-q27. J Med Genet 36:759-766, 1999.

129. Seranski P, Heiss NS, Dhorne-Pollet S, Radelof U, Korn B, Hennig S, Backes E, Schmidt S,Wiemann S, Schwartz CE, Lehrach H, Poustka A: Transcription mapping in a medulloblastomabreakpoint interval and Smith-Magenis syndrome candidate region: Identification of 53transcriptional units and new candidate genes. Genomics 56:1-11, 1999.

130. Graham Jr JM, Superneau D, Rogers RC, Corning K, Schwartz CE, Dykens EM: Clinical andbehavioral characteristics in FG syndrome. Am J Med Genet 85:470-475, 1999.

131. Hansen GM, Tackles D, Schwartz C, Justice MJ: A mouse chromosome 19 genetic mapincluding the Lvis1 viral insertion site. Genomics 56:228-231, 1999.

132. Sossey-Alaoui K, Lyon JA, Jones L, Abidi FE, Hartung AJ, Häne B, Schwartz CE, Stevenson RE,Srivastava AK: Molecular Cloning and Characterization of TRPC5 (HTRP5), the HumanHomologue of a Mouse Brain Receptor-Activated Capacitative Ca2+ Entry Channel. Genomics60: 330-340, 1999.

133. Abidi F, Schwartz CE, Carpenter JN, Villard L, Fontes M, Curtis : Letter to the Editor: Carpenter-Waziri syndrome results from a mutation in XNP. Am J Med Genet 85:249-251, 1999.


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134. Srivastava AK, McMillan S, Jermak C, Shomaker M, Copeland-Yates SA, Sossey-Alaoui K,Mumm S, Schlessinger D, Nagarajas R: Integrated STS/YAC Physical, Genetic, and TranscriptMap of Human Xq21.3 to q23/24 (DXS1203-DSX1059). Genomics 58:188-201, 1999.

135. Villard L, Bonino M-C, Abidi F, Ragusa A, Belougne J, Lossi A-M, Seaver L, Bonnefort J-P,Romano C, Fichera M, Lacombe D, Hanauer A, Philip N, Schwartz C, Fontes M: Evaluation of amutation screening strategy for sporadic cases of ATR-X syndrome. J. Med. Genet. 36:183-186,1999.

136. Rahman N, Arbour L, Houlston R, Bonaiti-Pellie C, Abidi F, Tranchemontagne J, Ford D, NarodS, Foulkes W, Pritchard-Jones K, Schwartz C, Stratton MR: Penetrance of Mutations in theFamilial Wilms Tumor Gene, FWT1. J Natl Cancer Inst 92(8):650-652, 2000.

137. Friez MJ, Essop FB, Krause A, Castiglia L, Ragusa A, Sossey-Alaoui K, Nelson RL, May MM,Michaelis RC, Srivastava AK, Schwartz CE, Stevenson RE, Goldman A, Villard L, LongshoreJW: Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated withmental retardation. Hum Genet 106:36-39, 2000.

138. Crawford DC, Schwartz CE, Meadows KL, Newman JL, Taft LF, Gunter C, Brown WT, CarpenterJ, Howard-Peebles PN, Monaghan KG, Nolin SL, Reiss AL, Feldman GL, Rohlfs EM, Warren ST,Sherman SL: Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat andsingle-nucleotide-polymorphism haplotypes in an African American population. Am J Hum Genet66:480-493, 2000.

139. Lossi A, Colleaux L, Chiaroni P, Fontes M, Villard L, Abidi F, Schwartz C, Briault S, Moraine C:Exclusion of Nine Candidate Genes for Their Involvement in X-Linked FG Syndrome (FGS1) inThree Families. Am J Med Genet 94:386-388, 2000.

140. Stevenson R, Abidi F, Schwartz C, Lubs H, Holmes L: Holmes-Gang Syndrome is Allelic WithXLMR-Hypotonic Face Syndrome. Am J Med Genet 94:383-385, 2000.

141. Fryns JP, Borghgraef M, Brown TW, Chelly J, Fisch GS, Hamel B, Hanauer A, Lacombe D, LuoL, MacPherson JN, Mandel JL, Moraine C, Mulley J, Nelson D, Oostra B, Partington M,Ramakers GJ, Ropers HH, Rousseau F, Schwartz C, Steinbach P, Stoll C, Tranebjaerg L,Turner G, Van Bokhoven H, Vianna-Morgante A: 9

th International workshop on fragile X

syndrome and X-linked mental retardation. Am J Med Genet 94(5): 345-360, 2000.

142. Cabezas DA, Slaugh R, Abidi F, Arena JF, Stevenson RE, Schwartz CE, Lubs HA: A new Xlinked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting andtremor localises to Xq24-q25. J Med Genet 37:658-662, 2000.

143. Schwartz C, Gillessen-Kaebach G, May M, Cappa M, Gorski J, Steindl K, Neri G: Two novelmutations confirm FGD1 is responsible for the Aarskog syndrome. Eur J Hum Genet 8:869-874,2000.

144. 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.

145. Seranski P, Hoff C, Radelof U, Hennig S, Reinhardt R, Schwartz CE, Heiss NS, Poustka A: RAI1is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients.Gene 270:69-76, 2001.

146. Villard L, Levy N, Xiang F, Kpebe A, Labell V, Chevillard C, Zhang Z, Schwartz CE, Tardieu M,Chelly J, Anvret M, Fontes M: Segregation of a totally skewed pattern of X chromosome


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inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease. J Med Genet 38:435-442, 2001.

147. Delaunoy J-P, Abidi F, Zeniou M, Jacquot S, Merienne K, Pannetier S, Schmitt M, Schwartz CE,

Hanauer A: Mutations in the X-linked RSK2 gene (RSP6KA3) in patients with Coffin-Lowry Syndrome. Hum Mutation 17(2):103-116, 2001.

148. Grimm T, Teglund S, Tackels D, Sangiorgi E, Gurrieri F, Schwartz C, Toftgard R: Genomic

organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/spilt-foot malformation type 3. FEBS Lett 505 (1): 13-17, 2001.

149. 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.

150. Lebel RR, May M, Pouls S, Lubs HA, Stevenson RE, Schwartz CE: Nonsyndromic X-linked

mental retardation associated with a missense mutation (P312L) in the FGD1 gene. Clinical Genet 61(2):139-145, 2002.

151. Lossi A-M, Laugier-Anfossi F, Depetris D, Gecz J, Gedeon A, Kooy F, Schwartz C, Mattei MG,

Croquette MF, Villard L: Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X; autosome translation t (X; 21) (p11.2; q22.3) and non-syndromic mental retardation. J Med Genet 39(2): 113-117, 2002.

152. Hahn KA, Salomons GS, Tackels-Horne D, Wood TC, Taylor HA, Schroer RJ, Lubs HA, Jakobs

C, Olson RL, Holden KR, Stevenson RE, 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.

153. Abidi FE, Holinski-Feder E, Rittinger O, Kooy F, Lubs HA, Stevenson RE, Schwartz CE: A novel

2-bp deletion in TM4SF2 is associated with MRX58. J Med Genet, 39(6): 430-433, 2002. 154. Simensen RJ, Abidi F, Collins JS, Schwartz CE, Stevenson RE: Cognitive Function in Coffin-

Lowry Syndrome. Clin Genet, 61(4): 299-304, 2002. 155. 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(5577): 2401-2403, 2002.

156. Plenge RM, Stevenson RE, Lubs HA, Schwartz CE, Willard HF: Skewed X-chromosome

inactivation is a common feature of X-linked mental retardation disorders. Am J Hum Genet 71:168-173, 2002.

157. Collins JS, Schwartz CE: Detecting polymorphisms and mutations in candidate genes. Am J

Hum Genet 71:1251-1253, 2002. 158. Vervoort VS, Smith RJH, 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(11):757-766, 2002.

159. 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(12):893-899, 2002.


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160. Stevenson RE, Schwartz CE: Clinical and molecular contributions to the understanding of X-linked mental retardation. Cytogenet Genome Res 99:265-275, 2002.

161. 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(1):11-17, 2003.

162. 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(1):55-61, 2003.

163. 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(1):49-51, 2003.

164. 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.

165. 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(3): 255-259, 2003.

166. 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.

167. 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(16): 1959-1971, 2003.

168. 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. 11:937-944, 2003.

169. Graham JM Jr, Wheeler P, Tackels-Horne D, Lin AE, Hall BD, May M, Short KM, Schwartz CE,

Cox TC: A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13. Am J Med Genet. 123A(1):37-44, 2003.

170. Hunter AGW, Schwartz CE, Abidi F: Coffin-Lowry Syndrome. GeneReviews 2004:

http://www.geneclinics.org/. 171. 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 (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. Am J Hum Genet 74:777-780, 2004.

http://www.geneclinics.org/


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172. 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 Nat’l Acad Sci 101:8090-8095, 2004.

173. 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.

174. Chang EH, Menezes M, Meyer NC, Cucci RA, Vervoort VS, Schwartz CE, Smith RJH: Branchio-

Oto-Renal Syndrome: The mutation spectrum in EYA1 and its phenotypic consequences. Human Mutation 23:582-589, 2004.

175. 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.

176. Osterlund T, Everman DB, Betz RC, Mosca M, Nothen MM, Schwartz CE, Zaphiropoulos PG,

Toftgard R: The FU gene and its possible protein isoforms. BMC Genomics 5:49, 2004. 177. Christophe-Hobertus C, Kooy F, Gecz J, Abramowicz MJ, Holinski-Feder E, Schwartz C,

Christophe D: TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation. BMC Med Gene 5:22, 2004.

178. 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 130A:123-127, 2004.

179. 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.

180. 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.

181. 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.

182. 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.

183. 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.

184. 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.


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185. 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 38results from the dup24 mutation in the ARX (Aristaless related homeobox) gene. BMC Med Genet6:16, 2005

186. 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 HumGenet 77:41-53, 2005.

187. Stevenson RE, Bennett CW, Abidi F, Kleefstra T, Porteous M, Simensen RJ, Lubs HA, HamelBC, Schwartz CE: Renpenning syndrome comes into focus. Am J Med Genet A 134:415-421,2005.

188. Holden KR, Zuniga OF, May MM, Su H, Molinero MR, Rogers RC, Schwartz CE: X-linked MCT8gene mutations: characterization of the pediatric neurologic phenotype. J Child Neurol. 20:852-857, 2005.

189. Bhat SS, Ladd S, Schmidt KR, Schwartz CE, DuPont BR, Stevenson RE, Srivastava AK:Disruption of DMD and deletion of FACL4 causing developmental delay, hypotonia and multiplecongenital anomalies. Cytogenet Genome Research 112:170-175, 2006.

190. 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 CassiaStocco Dos Santos R, Kalscheuer V, Hanauer A: Disruptions of the novel KIAA1202 gene areassociated with X-linked mental retardation. Hum Genet 118:578-590, 2006.

191. Shalev SA, Chervinski E, Weiner E, Mazor G, Friez MJ, Schwartz C: Clinical variation of Aarskogsyndrome in a large family with 2189delA in the FGD1 gene.Am J Med Genet 140A:162-165, 2006.

192. Zhang L, Wang T, Wright AF, Suri M, Schwartz CE, Stevenson RE, Valle D: A microdeletion inXp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a largekindred. Am J Med Genet A. 140:349-357, 2006.

193. Vervoort VS, Guzauskas G, Archie J, Schwartz CE, Stevenson RE, Srivastava AK: AGTR2 inbrain development and function. Am J Med Genet A. 140:419-420, 2006.

194. 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(5):414-419,2006.

195. 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 withmental retardation of unknown etiology. Hum Genet, 119:604-610, 2006.

196. 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 MedGenet 43:e30, 2006.

197. Amos-Landgraf JM, Cottle A, Plenge RM, Friez M, Schwartz CE, Longshore J, Willard HF: Xchromosome-inactivation patterns of 1,005 phenotypically unaffected females. Am J Hum Genet79:493-499, 2006.


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198. Wang RY, Jones JR, Chen S, Rogers RC, Friez MJ, Schwartz CE, Graham JM Jr.: A previously unreported mutation in a Currarino syndrome kindred. Am J Med Genet A 140:1923-1930, 2006.

199. Lyle K, Radhakrishna U, Blouin JL, Gagos S, Everman DB, Gehrig C, Delozier-Blanchet C,

Solanki JV, Patel UC, Nath SK, Gurrieri F, Neri G, Schwartz CE, Antonarkis SE: Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region. Am J Med Genet A 140(13):1384-1395, 2006.

200. 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):1375-83, 2006.

201. Barker KT, Foulkes WD, Schwartz CE, Labadie C, Monsell F, Houlston RS, Harper J. Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes?. J Med Genet. 43(7):613-4, 2006.

202. 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 1 beta signal peptide structural variants in patients with autism. Neurosci Lett. 409(1):10-13, 2006.

203. Kumar RA, Leach S, Bonaguro R, Chen J, Yokom DW, Abrahams BS, Seaver L, Schwartz CE,

Dobyns W, Brooks-Wilson A, Simpson EM: Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations. Genes Brain Behav. 6(6):503-516, 2007.

204. 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):e1687-1695, 2006.

205. Tarpey PS, Stevens C, Teague J, Edkins S, O’Meara S, Avis T, Barthorpe S, Buck G, Butler A, Cole J, Dicks E, Gray K, Halliday K, Harrison R, Hills K, Hinton J, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Tofts C, Varian J, West S, Widaa S, Yates A, Catford R, Butler J, Mallya U, Moon J, Luo Y, Dorkins H, Thompson D, Easton DF, Wooster R, Bobrow M, Carpenter N, Simensen RJ, Schwartz CE, Stevenson RE, Turner G, Partington M, Gecz J, Stratton MR, Futreal PA, Raymond FL: Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. Am J Hum Genet, 79(6):1119-1124, 2006.

206. 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, Rodrigues 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 CULB4, 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(2):345-352, 2007.

207. Lenski C, Frank Kooy R, 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):372-377, 2007.


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208. Kesler SR, Simensen RJ, Voeller K, Abidi F, Stevenson RE, Schwartz CE, Reiss AL: Altered

neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome. Neurogenetics 8(2):143-147, 2007.

209. Risheg H, Graham JM Jr, Clark RD, Rogers RC, Optiz 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):451-453, 2007.

210. 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, Joesph 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(7):472-477, 2007.

211. Zhang L, Chunfa J, Obie C, Abidi F, Schwartz CE, Stevenson RE, Valle D, Wang T: X-

chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked Mental Retardation. Genome Res 17(5):641-648, 2007.

212. 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 I, Cole T, Easton DF, Wooster R, Bobrow M, Schwartz CE, Gecz, 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(5):982-987, 2007.

213. Rosenburg EH, Martinez Munoz C, Betsalel OT, vanDooren SJ, Fernandez M, Jakobs C,

Degrauw TJ, Kleefstra T, Schwartz CE, Salomons GS: Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application. Hum Mutat, 28(9):890-896, 2007.

214. 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. 13;104(46):18163-18168, 2007.

215. Stevenson RE, Brasington CK, Skinner C, Simensen RJ, Spence JE, Kesler S, Reiss AL, Schwartz CE: Craniofacioskeletal syndrome: an X-linked dominant disorder with early lethality in males. Am J Med Genet A. 143(19):2321-2329, 2007.

216. 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(9):1127-1133, 2007.

217. Kumar RA, Everman DB, Morgan CT, Slavotinek A, Schwartz CE, Simpson EM: Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes. BMC Med Genet. 26;8:48, 2007.


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218. 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(1):19-22, 2007.

219. Babbs C, Heller R, Everman DB, Crocker M, Twigg SR, Schwartz CE, Giele H, Wilkie AO: A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. Hum Genet. 122(2):191-199, 2007.

220. Marble M, Voeller KS, May MM, Stevenson RE, Schwartz CE, Simensen RJ: Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestations. Am J Med Genet A. 143(13):1442-1447, 2007.

221. Hoffman JD, Irons M, Schwartz CE, Medne L, Zackai EH: A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes. Am J Med Genet A. 143(12):1282-1286, 2007.

222. 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(1):94-96, 2008.

223. Marco E, Abidi FE, Bristow J, Dean WB, Cotter PD, Jeremy RJ, Schwartz CE, Sherr EH: ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. J Med Genet. 45(2):100-105, 2008.

224. Hettinger JA, Liu X, Schwartz CE, Michaelis RC, Holden JJ: A DRD1 haplotype is associated with risk for autism spectrum disorders in male-only affected sib-pair families. Am J Med Genet B Neuropsychiatr Genet. 147(5):628-636, 2008.

225. Rogers RC, Stevenson RE, Simensen RJ, Holden KR, Schwartz CE: Finding new etiologies of

mental retardation and hypotonia: X marks the spot. Dev Med Child Neurol. 50:104-111, 2008. 226. Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, Bauters M, Govaerts K,

Vandeleur L, Van Esch H, Chelly J, Sanlaville D, van Bokhoven H, Ropers HH, Laumonnier F, Ranieri E, Schwartz CE, Abidi F, Tarpey PS, Futreal PA, Whibley A, Raymond FL, Stratton MR, Fryns JP, Scott R, Peippo M, Sipponen M, Partington M, Mowat D, Field M, Hackett A, Marynen P, Turner G, Gécz J: Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet. 82:432-443, 2008.

227. Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De

Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, Zuffardi O, Chen C, Schwartz CE, Eichler EE: A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet.40:322-328, 2008.

228. Chiurazzi P, Schwartz CE, Gecz J, Neri G: XLMR genes: update 2007. Eur J Hum Genet.

16:422-434, 2008. 229. Yan J, Noltner K, Feng J, Li W, Schroer R, Skinner C, Zeng W, Schwartz CE, Sommer SS:

Neurexin 1alpha structural variants associated with autism. Neurosci Lett. 27;438:368-370, 2008. 230. Jansen J, Friesema EC, Kester MH, Schwartz CE, Visser TJ: Genotype-phenotype relationship

in patients with mutations in thyroid hormone transporter MCT8. Endocrinology149:2184-2190, 2008.


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231. Bauters M, Van Esch H, Friez MJ, Boespflug-Tanguy O, Zenker M, Vianna-Morgante AM, Rosenberg C, Ignatius J, Raynaud M, Hollanders K, Govaerts K, Vandenreijt K, Niel F, Blanc P, Stevenson RE, Fryns JP, Marynen P, Schwartz CE, Froyen G: Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res.18:847-858, 2008.

232. Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R,

Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE,Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD 2nd, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB: Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet. 45:710-720, 2008.

233. 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. 146(12):2213-2220, 2008.

234. Ding N, Zhou H, Esteve PO, Chin HG, Kim S, Xu X, Joseph SM, Friez MJ, Schwartz CE,

Pradhan S, Boyer TG: Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation. Mol Cell. 31:347-359, 2008.

235. Yan J, Feng J, Schroer R, Li W, Skinner C, Schwartz CE, Cook EH Jr, Sommer SS. Analysis of the neuroligin 4Y gene in patients with autism. Psychiatr Genet. 2008 Aug;18(4):204-7.

236. de Alencastro G, McCloskey DE, Kliemann SE, Maranduba CM, Pegg AE, Wang X, Bertola DR,

Schwartz CE, Passos-Bueno MR, Sertié AL: New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome. J Med Genet. 45:539-543, 2008.

237. Abidi FE, Holloway L, Moore CA, Weaver DD, Simensen RJ,Stevenson RE, Rogers RC,

Schwartz CE: Mutations in JARID1C are associated with X-linked Mental Retardation, Short Stature and Hyperreflexia. J Med Genet. 45:787-793, 2008.

238. Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Giudice ML, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE: Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes. N Engl J Med. 359:1685-1699, 2008.

239. Cho G, Bhat SS, Gao J, Collins JS, Rogers RC, Simensen RJ, Schwartz CE, Golden JA, Srivastava AK: Evidence that SIZN1 is a candidate X-linked mental retardation gene. Am J Med Genet A. 146(20):2644-2650.

240. Saul RA, Friez M, Eaves K, Stapleton GA, Collins JS, Schwartz CE, Stevenson RE: Fragile X syndrome detection in newborns-pilot study. Genet Med. 10:714-719, 2008.


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241. Graham JM Jr, Visootsak J, Dykens E, Huddleston L, Clark RD, Jones KL, Moeschler JB, Opitz JM, Morford J, Simensen R, Rogers RC, Schwartz CE, Friez MJ, Stevenson RE: Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene. Am J Med Genet A. 146(23):3011-3017, 2008.

242. Lyons MJ, Graham JM Jr, Neri G, Hunter AG, Clark RD, Rogers RC, Moscarda M, Boccuto 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.

243. Piluso G, D'Amico F, Saccone V, Bismuto E, Rotundo IL, Di Domenico M, Aurino S, Schwartz CE, Neri G, Nigro V: A Missense Mutation in CASK Causes FG Syndrome in an Italian Family. Am J Hum Genet. 84(2):162-177, 2009.

244. Becerra-Solano LE, Butler J, Castañeda-Cisneros G, McCloskey DE, Wang X, Pegg AE, Schwartz CE, Sánchez-Corona J, García-Ortiz JE: A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome. Am J Med Genet A. 149(3):328-335, 2009

245. Maghirang-Rodriguez R, Archie JG, Schwartz CE, Collins JS: The c.940G variant of the Microcephalin (MCPH1) gene is not associated with microcephaly or mental retardation. Am J Med Genet A. 149(4):622-625, 2009.

246. Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks

E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, 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(5):535-543, 2009.

247. Stevenson RE, Tarpey P, May MM, Stratton MR, Schwartz CE: Arena syndrome is caused by a missense mutation in PLP1. Am J Med Genet A. 149(5):1081, 2009.

248. Contrepas A, Walker J, Koulakoff A, Franek KJ, Qadri F, Giaume C, Corvol P, Schwartz CE, Nguyen G: A role of the (pro)renin receptor in neuronal cell differentiation. Am J Physiol Regul Integr Comp Physiol. 297(2):R250-257, 2009.

249. Jackson PB, Boccuto L, Skinner C, Collins JS, Neri G, Gurrieri F, Schwartz CE: Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder. Autism Res. 2(4):232-236, 2009.

250. Mefford HC, Cooper GM, Zerr T, Smith JD, Baker C, Shafer N, Thorland EC, Skinner C, Schwartz CE, Nickerson DA, Eichler EE: A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Res. 19(9):1579-1585, 2009.

251. Cohn DM, Pagon RA, Hudgins L, Schwartz CE, Stevenson RE, Friez MJ: Partial ATRX gene duplication causes ATR-X syndrome. Am J Med Genet A. 149(10):2317-2320, 2009.

252. Kesler SR, Schwartz C, Stevenson RE, Reiss AL. The impact of spermine synthase (SMS) mutations on brain morphology. Neurogenetics 10(4):299-305, 2009.


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253. 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. 1(11):769-775, 2009.

254. Musante L, Kunde SA, Sulistio TO, Fischer U, Grimme A, Frints SG, Schwartz CE, Martínez F, Romano C, Ropers HH, Kalscheuer VM: Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon. Hum Mutat. 31(1):90-98, 2010.

255. Giannandrea M, Bianchi V, Mignogna ML, Sirri A, Carrabino S, D'Elia E, Vecellio M, Russo S, Cogliati F, Larizza L, Ropers HH, Tzschach A, Kalscheuer V, Oehl-Jaschkowitz B, Skinner C, Schwartz CE, Gecz J, Van Esch H, Raynaud M, Chelly J, de Brouwer AP, Toniolo D, D'Adamo P: Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am J Hum Genet. 86(2):185-195, 2010.

256. Lugtenberg D, Zangrande-Vieira L, Kirchhoff M, Whibley AC, Oudakker AR, Kjaergaard S, Vianna-Morgante AM, Kleefstra T, Ruiter M, Jehee FS, Ullmann R, Schwartz CE, Stratton M, Raymond FL, Veltman JA, Vrijenhoek T, Pfundt R, Schuurs-Hoeijmakers JH, Hehir-Kwa JY, Froyen G, Chelly J, Ropers HH, Moraine C, Gècz J, Knijnenburg J, Kant SG, Hamel BC, Rosenberg C, van Bokhoven H, de Brouwer AP: Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. Am J Med Genet A. 152(3):638-645, 2010.

257. Rodriguez JD, Bhat SS, Meloni I, Ladd S, Leslie ND, Doyne EO, Renieri A, Dupont BR, Stevenson RE, Schwartz CE, Srivastava A:. Intellectual disability, midface hypoplasia, facial hypotonia, and alport syndrome are associated with a deletion in Xq22.3. Am J Med Genet A. 152(3):713-717, 2010.

258. Rujirabanjerd S, Nelson J, Tarpey PS, Hackett A, Edkins S, Raymond FL, Schwartz CE, Turner G, Iwase S, Shi Y, Futreal PA, Stratton MR, Gecz J: Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. Eur J Hum Genet. 18(3):330-335, 2010.

259. Tapia VE, Nicolaescu E, McDonald CB, Musi V, Oka T, Inayoshi Y, Satteson AC, Mazack V, Humbert J, Gaffney CJ, Beullens M, Schwartz CE, Landgraf C, Volkmer R, Pastore A, Farooq A, Bollen M, Sudol M: Y65C missense mutation in the WW domain of the golabi-ito-hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing. J Biol Chem. 285(25):19391-19401, 2010.

260. Garburn JY, Neumann M, Trojanowski JQ, Lee VM, Feldman G., Norris JW, Friez MJ, Schwartz CE, Stevenson R, Sima AA: A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition. Brain 133(5):1391-1402, 2010.

261. Hackett A, Tarpey PS, Licata A, Cox J, Whibley A, Boyle J, Rogers C, Grigg J, Partington M, Stevenson RE, Tolmie J, Yates JR, Turner G, Wilson M, Futreal AP, Corbett M, Shaw M, Gecz J, Raymond FL, Stratton MR, Schwartz CE, Abidi FE: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. Eur J Hum Genet 18(5):544-552, 2010.

262. Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M,

Gardner A, Proos A, Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Futreal PA, Stratton MR, Gécz J. Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. Nat Genet. 42(6):486-8, 2010.


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263. Yilmaz A, Hamel N, Schwartz CE, Houlston RS, Harper JI, Foulkes WD. A genome-wide analysis of loss of heterozygosity and chromosomal copy number variation in Proteus syndrome using high-density SNP microarrays. J Hum Genet. 55(9):627-30, 2010.

264. Takano K, Lyons M, Moyes C, Jones J, Schwartz CE. Two percent of patients suspected of having Angelman syndrome have TCF4 mutations. Clin Genet. 78(3):282-8, 2010.

265. Zhang Z, Teng S, Wang L, Schwartz CE, Alexov E. Computational analysis of missense mutations causing Snyder-Robinson syndrome. Hum Mutat. 31(9):1043-9, 2010.

266. Whibley AC, Plagnol V, Tarpey PS, Abidi F, Fullston T, Choma MK, Boucher CA, Shepherd L, Willatt L, Parkin G, Smith R, Futreal PA, Shaw M, Boyle J, Licata A, Skinner C, Stevenson RE, Turner G, Field M, Hackett A, Schwartz CE, Gecz J, Stratton MR, Raymond FL. Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. Am J Hum Genet. 87(2):173-88, 2010.

267. Noor A, Whibley A, Marshall CR, Gianakopoulos PJ, Piton A, Carson AR, Orlic-Milacic M, Lionel AC, Sato D, Pinto D, Drmic I, Noakes C, Senman L, Zhang X, Mo R, Gauthier J, Crosbie J, Pagnamenta AT, Munson J, Estes AM, Fiebig A, Franke A, Schreiber S, Stewart AF, Roberts R, McPherson R, Guter SJ, Cook EH Jr, Dawson G, Schellenberg GD, Battaglia A, Maestrini E; Autism Genome Project Consortium, Jeng L, Hutchison T, Rajcan-Separovic E, Chudley AE, Lewis SM, Liu X, Holden JJ, Fernandez B, Zwaigenbaum L, Bryson SE, Roberts W, Szatmari P, Gallagher L, Stratton MR, Gecz J, Brady AF, Schwartz CE, Schachar RJ, Monaco AP, Rouleau GA, Hui CC, Lucy Raymond F, Scherer SW, Vincent JB. Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Sci Transl Med. 2(49):49ra68, 2010.

268. Satterfield BC, Garcia RA, Gurrieri F, Schwartz CE. PCR and serology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism. Mol Autism. 1(1):14, 2010.

269. 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 152A(11):2775-83, 2010.

270. Pegg AE, Wang X, Schwartz CE, McCloskey DE. Spermine synthase activity affects the content of decarboxylated S-adenosylmethionine. Biochem J. 15;433(1):139-44, 2010.

271. Wang L, Srivastava AK, Schwartz CE. Microarray data integration for genome-wide analysis of human tissue-selective gene expression. BMC Genomics. 11 Suppl 2:S15, 2010.

272. McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF. Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. Am J Hum Genet. 87(6):905-14, 2010.

273. Teng S, Srivastava AK, Schwartz CE, Alexov E, Wang L. Structural assessment of the effects of amino acid substitutions on protein stability and protein interaction. Int J Comput Biol Drug Des.3(4):334-49, 2010.

274. Filho AB, Souza J, Faucz FR, Sotomaior VS, Dupont B, Bartel F, Rodriguez R, Schwartz CE,

Skinner C, Alliman S, Raskin S. Somatic/gonadal mosaicism in a syndromic form of ectrodactyly,


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including eye abnormalities, documented through array-based comparative genomic hybridization. Am J Med Genet A. 155A(5):1152-6, 2011.

275. Zhang Z, Norris J, Schwartz CE, Alexov E. In silico and in vitro investigations of the mutability ofdisease-causing missense mutation sites in spermine synthase. PLoS One 6(5):e20373, 2011.

276. Franek KJ, Butler J, Johnson J, Simensen R, Friez MJ, Bartel F, Moss T, DuPont B, Berry K,Bauman M, Skinner C, Stevenson RE, Schwartz CE. Deletion of the immunoglobulin domain ofIL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioralproblems and mild dysmorphism. Am J Med Genet A. 155A(5):1109-14, 2011.

277. Mejias R, Adamczyk A, Anggono V, Niranjan T, Thomas GM, Sharma K, Skinner C, SchwartzCE, Stevenson RE, Fallin MD, Kaufmann W, Pletnikov M, Valle D, Huganir RL, Wang T. Gain-of-

function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism. Proc Natl Acad Sci U S A. 108(12):4920-5, 2011.

278. Carter MT, Geraghty MT, De La Cruz L, Reichard RR, Boccuto L, Schwartz CE, Clericuzio CL. Anew syndrome with multiple capillary malformations, intractable seizures, and brain and limbanomalies. Am J Med Genet A. 155A(2):301-6, 2011.

279. Betsalel OT, Rosenberg EH, Almeida LS, Kleefstra T, Schwartz CE, Valayannopoulos V, Abdul-Rahman O, Poplawski N, Vilarinho L, Wolf P, den Dunnen JT, Jakobs C, Salomons GS.Characterization of novel SLC6A8 variants with the use of splice-site analysis tools andimplementation of a newly developed LOVD database. Eur J Hum Genet. 19(1):56-63, 2011.

280. Schwartz CE, Wang X, Stevenson RE, Pegg AE. Spermine synthase deficiency resulting in X- linked intellectual disability (Snyder-Robinson syndrome). Methods Mol Biol. 720:437-45, 2011.

281. Armour CM, Bulman DE, Jarinova O, Rogers RC, Clarkson KB, DuPont BR, Dwivedi A, BartelFO, McDonell L, Schwartz CE, Boycott KM, Everman DB, Graham GE. 17p13.3microduplications are associated with split-hand/foot malformation and long-bone deficiency(SHFLD). Eur J Hum Genet. 9:1144-51, 2011.

282. Takano K, Tan WH, Irons MB, Jones JR, Schwartz CE. Pitt-Hopkins syndrome should be in thedifferential diagnosis for males presenting with an ATR-X phenotype. Clin Genet. 80(6):600-1,2011.

283. Stevenson RE, Holden KR, Rogers RC, Schwartz CE. Seizures and X-linked intellectualdisability. Eur J Med Genet. 55(5):307-12, 2012.

284. Simensen RJ, Rogers RC, Collins JS, Abidi F, Schwartz CE, Stevenson RE. Short-term memorydeficits in carrier females with KDM5C mutations. Genet Couns. 23(1):31-40, 2012.

285. Radhakrishna U, Nath SK, McElreavey K, Ratnamala U, Sun C, Maiti AK, Gagnebin M, Béna F,Newkirk HL, Sharp AJ, Everman DB, Murray JC, Schwartz CE, Antonarakis SE, Butler MG.Genome-wide linkage and copy number variation analysis reveals 710 kb duplication onchromosome 1p31.3 responsible for autosomal dominant omphalocele. J Med Genet. 49(4):270-6, 2012.

286. Shoubridge C, Gardner A, Schwartz CE, Hackett A, Field M, Gecz J. Is there a Mendeliantransmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation? Eur JHum Genet. 20(12):1311-4, 2012.

287. Lubs HA, Stevenson RE, Schwartz CE. Fragile X and X-linked intellectual disability: fourdecades of discovery. Am J Hum Genet. 90(4):579-90, 2012.


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288. Birnbaum RY, Clowney EJ, Agamy O, Kim MJ, Zhao J, Yamanaka T, Pappalardo Z, Clarke SL,Wenger AM, Nguyen L, Gurrieri F, Everman DB, Schwartz CE, Birk OS, Bejerano G, LomvardasS, Ahituv N. Coding exons function as tissue-specific enhancers of nearby genes. Genome Res.22(6):1059-68, 2012.

289. Bedoyan JK, Schaibley VM, Peng W, Bai Y, Mondal K, Shetty AC, Durham M, Micucci JA,Dhiraaj A, Skidmore JM, Kaplan JB, Skinner C, Schwartz CE, Antonellis A, Zwick ME, CavalcoliJD, Li JZ, Martin DM. Disruption of RAB40AL function leads to Martin-Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. J Med Genet. 49(5):332-40, 2012.

290. Hettinger JA, Liu X, Hudson ML, Lee A, Cohen IL, Michaelis RC, Schwartz CE, Lewis SM,Holden JJ. DRD2 and PPP1R1B (DARPP-32) polymorphisms independently confer increasedrisk for autism spectrum disorders and additively predict affected status in male-only affected sib-pair families. Behav Brain Funct. 8(1):19, 2012.

291. Schwartz CE, Neri G. Autism and intellectual disability: Two sides of the same coin. Am J MedGenet C Semin Med Genet. 160C(2):89-90, 2012.

292. Schwartz CE, Kunwar PS, Greve DN, Kagan J, Snidman NC, Bloch RB. A phenotype of earlyinfancy predicts reactivity of the amygdala in male adults. Mol Psychiatry 17(10):1042-50, 2012.

293. Takano K, Liu D, Tarpey P, Gallant E, Lam A, Witham S, Alexov E, Chaubey A, Stevenson RE,Schwartz CE, Board PG, Dulhunty AF. An X-linked channelopathy with cardiomegaly due to aCLIC2 mutation enhancing ryanodine receptor channel activity. Hum Mol Genet. 21(20):4497-507, 2012.

294. Birnbaum RY, Everman DB, Murphy KK, Gurrieri F, Schwartz CE, Ahituv N. Functionalcharacterization of tissue-specific enhancers in the DLX5/6 locus. Hum Mol Genet. 21(22):4930-8, 2012.

295. Zhou H, Spaeth JM, Kim NH, Xu X, Friez MJ, Schwartz CE, Boyer TG. MED12 mutations linkintellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling.Proc Natl Acad Sci U S A. 109(48):19763-8, 2012.

296. Borck G, Shin BS, Stiller B, Mimouni-Bloch A, Thiele H, Kim JR, Thakur M, Skinner C,Aschenbach L, Smirin-Yosef P, Har-Zahav A, Nürnberg G, Altmüller J, Frommolt P, Hofmann K,Konen O, Nürnberg P, Munnich A, Schwartz CE, Gothelf D, Colleaux L, Dever TE, Kubisch C,Basel-Vanagaite L. eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disabilityto impaired translation initiation. Mol Cell. 48(4):641-6, 2012.

297. Inaba Y, Herlihy AS, Schwartz CE, Skinner C, Bui QM, Cobb J, Shi EZ, Francis D, Arvaj A, AmorDJ, Pope K, Wotton T, Cohen J, Hewitt JK, Hagerman RJ, Metcalfe SA, Hopper JL, Loesch DZ,Slater HR, Godler DE. Fragile X-related element 2 methylation analysis may provide a suitableoption for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newbornscreening: a technical validation study. Genet Med. 15(4):290-98, 2013.

298. Godler DE, Inaba Y, Shi EZ, Skinner C, Bui QM, Francis D, Amor DJ, Hopper JL, Loesch DZ,Hagerman RJ, Schwartz CE, Slater HR. Relationships between age and epi-genotype of theFMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation inFM individuals, with the selection for the unmethylated state being most significant between birthand puberty. Hum Mol Genet. 22(8):1516-24, 2013.

299. Grafodatskaya D, Chung BH, Butcher DT, Turinsky AL, Goodman SJ, Choufani S, Chen YA, LouY, Zhao C, Rajendram R, Abidi FE, Skinner C, Stavropoulos J, Bondy CA, Hamilton J, Wodak S,Scherer SW, Schwartz CE, Weksberg R. Multilocus loss of DNA methylation in individuals withmutations in the histone H3 Lysine 4 Demethylase KDM5C. BMC Med Genomics 6:1, 2013.


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300. Boccuto L, Lauri M, Sarasua SM, Skinner CD, Buccella D, Dwivedi A, Orteschi D, Collins JS,

Zollino M, Visconti P, Dupont B, Tiziano D, Schroer RJ, Neri G, Stevenson RE, Gurrieri F, Schwartz CE. Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. Eur J Hum Genet. 21(3):310-6, 2013.

301. Schwartz CE, Chen CF. Progress in Detecting Genetic Alterations and Their Association with

Human Disease. J Mol Biol. S0022-2836(13)00457-9, 2013.

302. Boccuto L, Chen CF, Pittman AR, Skinner CD, McCartney HJ, Jones K, Bochner BR, Stevenson RE, Schwartz CE. Decreased tryptophan metabolism in patients with autism spectrum disorders. Mol Autism. 4(1):16, 2013.

303. van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I,

Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet. 50(7):463-72, 2013.

304. Schwartz CE, Holt DJ, Rosenbaum JF. Methodological challenges of moving beyond DSM

categories: transdiagnostic studies of frontolimbic connectivity changes in vulnerable individuals. Biol Psychiatry. 74(4):240-1, 2013.

305. Peron A, Spaccini L, Norris J, Bova SM, Selicorni A, Weber G, Wood T, Schwartz CE, Mastrangelo M. Snyder-Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype. Am J Med Genet A. 161(9):2316-20, 2013. 306. Graham JM, Jr., Schwartz CE. MED12 related disorders. Am J Med Genet A. 161A:2734- 2740, 2013. 307. Stevenson RE, Schwartz CE, Rogers RC. Malformations among the X-linked intellectual disability syndromes. Am J Med Genet A. 161A:2741-2749, 2013. 308. Boccuto L, Aoki K, Flanagan-Steet H, Chen CF, Fan X, Bartel F, Petukh M, Pittman A, Saul R, Chaubey A, Alexov E, Tiemeyer M, Steet R, Schwartz CE. A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. Hum Mol Genet 23:418-433, 2014. 309. Schwartz CE. Aberrant tryptophan metabolism: the unifying biochemical basis for autism

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name: charles edward schwartz address: (office) · 2020. 1. 2. · major - chemistry b.a. - 1970...

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