Institute for Clinical and Translational Research

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C THOMAS CASKEY

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
DivisionMolecular & Human Genetics
AddressOne Baylor Plaza, T807
Houston TX 77030
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    Other Positions
    TitleProfessor
    InstitutionBaylor College of Medicine
    DepartmentHuman Genome Sequencing Center
    DivisionHuman Genome Sequencing Center


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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Perkins BA, Caskey CT, Brar P, Dec E, Karow DS, Kahn AM, Hou YC, Shah N, Boeldt D, Coughlin E, Hands G, Lavrenko V, Yu J, Procko A, Appis J, Dale AM, Guo L, Jönsson TJ, Wittmann BM, Bartha I, Ramakrishnan S, Bernal A, Brewer JB, Brewerton S, Biggs WH, Turpaz Y, Venter JC. Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults. Proc Natl Acad Sci U S A. 2018 Apr 03; 115(14):3686-3691. PMID: 29555771.
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    2. Caskey T. Precision Medicine: Functional Advancements. Annu Rev Med. 2018 Jan 29; 69:1-18. PMID: 29261360.
      View in: PubMed
    3. Tang H, Kirkness EF, Lippert C, Biggs WH, Fabani M, Guzman E, Ramakrishnan S, Lavrenko V, Kakaradov B, Hou C, Hicks B, Heckerman D, Och FJ, Caskey CT, Venter JC, Telenti A. Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes. Am J Hum Genet. 2017 Nov 02; 101(5):700-715. PMID: 29100084.
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    4. Long T, Hicks M, Yu HC, Biggs WH, Kirkness EF, Menni C, Zierer J, Small KS, Mangino M, Messier H, Brewerton S, Turpaz Y, Perkins BA, Evans AM, Miller LA, Guo L, Caskey CT, Schork NJ, Garner C, Spector TD, Venter JC, Telenti A. Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites. Nat Genet. 2017 Apr; 49(4):568-578. PMID: 28263315.
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    5. Guo L, Milburn MV, Ryals JA, Lonergan SC, Mitchell MW, Wulff JE, Alexander DC, Evans AM, Bridgewater B, Miller L, Gonzalez-Garay ML, Caskey CT. Plasma metabolomic profiles enhance precision medicine for volunteers of normal health. Proc Natl Acad Sci U S A. 2015 Sep 1; 112(35):E4901-10. PMID: 26283345.
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    6. Caskey CT, Leder P. The RNA code: nature's Rosetta Stone. Proc Natl Acad Sci U S A. 2014 Apr 22; 111(16):5758-9. PMID: 24756939; PMCID: PMC4000803.
      View in: PubMed, PubMed Central
    7. Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzy?ski P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovre?i? L, Palanda?i? A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014; 15(3):R53. PMID: 24667040; PMCID: PMC4073084.
      View in: PubMed, PubMed Central
    8. Caskey CT, Gonzalez-Garay ML, Pereira S, McGuire AL. Adult genetic risk screening. Annu Rev Med. 2014; 65:1-17. PMID: 24188662.
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    9. Gonzalez-Garay ML, McGuire AL, Pereira S, Caskey CT. Personalized genomic disease risk of volunteers. Proc Natl Acad Sci U S A. 2013 Oct 15; 110(42):16957-62. PMID: 24082139; PMCID: PMC3801013.
      View in: PubMed, PubMed Central
    10. Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet. 2013 Nov; 45(11):1405-8. PMID: 24076603; PMCID: PMC3819162.
      View in: PubMed, PubMed Central
    11. Caskey CT. Obituary: Marshall Nirenberg (1927-2010). Nature. 2010 Mar 4; 464(7285):44. PMID: 20203601.
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    12. Caskey CT. Using genetic diagnosis to determine individual therapeutic utility. Annu Rev Med. 2010; 61:1-15. PMID: 19824818.
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    13. Caskey CT. The drug development crisis: efficiency and safety. Annu Rev Med. 2007; 58:1-16. PMID: 17059362.
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    14. Ohbayashi F, Balamotis MA, Kishimoto A, Aizawa E, Diaz A, Hasty P, Graham FL, Caskey CT, Mitani K. Correction of chromosomal mutation and random integration in embryonic stem cells with helper-dependent adenoviral vectors. Proc Natl Acad Sci U S A. 2005 Sep 20; 102(38):13628-33. PMID: 16174752; PMCID: PMC1224662.
      View in: PubMed, PubMed Central
    15. Timchenko LT, Caskey CT. Triplet repeat disorders: discussion of molecular mechanisms. Cell Mol Life Sci. 1999 Aug 30; 55(11):1432-47. PMID: 10518991.
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    16. Roberts R, Timchenko NA, Miller JW, Reddy S, Caskey CT, Swanson MS, Timchenko LT. Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice. Proc Natl Acad Sci U S A. 1997 Nov 25; 94(24):13221-6. PMID: 9371827; PMCID: PMC24290.
      View in: PubMed, PubMed Central
    17. Voskova-Goldman A, Peier A, Caskey CT, Richards CS, Shaffer LG. DMD-specific FISH probes are diagnostically useful in the detection of female carriers of DMD gene deletions. Neurology. 1997 Jun; 48(6):1633-8. PMID: 9191779.
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    18. Alford RL, Ashizawa T, Jankovic J, Caskey CT, Richards CS. Molecular detection of new mutations, resolution of ambiguous results and complex genetic counseling issues in Huntington disease. Am J Med Genet. 1996 Dec 18; 66(3):281-6. PMID: 8985488.
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    19. Timchenko LT, Caskey CT. Trinucleotide repeat disorders in humans: discussions of mechanisms and medical issues. FASEB J. 1996 Dec; 10(14):1589-97. PMID: 9002550.
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    20. Timchenko LT, Miller JW, Timchenko NA, DeVore DR, Datar KV, Lin L, Roberts R, Caskey CT, Swanson MS. Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res. 1996 Nov 15; 24(22):4407-14. PMID: 8948631; PMCID: PMC146274.
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    21. Zhao Z, Yazdani A, Shen Y, Sun Z, Bailey J, Caskey CT, Lee CC. Molecular dissection of a cosmid from a gene-rich region in 17q21 and characterization of a candidate gene for alpha-N-acetylglucosaminidase with two cDNA isoforms. Mamm Genome. 1996 Sep; 7(9):686-90. PMID: 8703123.
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    22. Ashizawa T, Monckton DG, Vaishnav S, Patel BJ, Voskova A, Caskey CT. Instability of the expanded (CTG)n repeats in the myotonin protein kinase gene in cultured lymphoblastoid cell lines from patients with myotonic dystrophy. Genomics. 1996 Aug 15; 36(1):47-53. PMID: 8812415.
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    23. Zhao Z, Lee CC, Monckton DG, Yazdani A, Coolbaugh MI, Li X, Bailey J, Shen Y, Caskey CT. Characterization and genomic mapping of genes and pseudogenes of a new human protein tyrosine phosphatase. Genomics. 1996 Jul 1; 35(1):172-81. PMID: 8661118.
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    24. Kochanek S, Clemens PR, Mitani K, Chen HH, Chan S, Caskey CT. A new adenoviral vector: Replacement of all viral coding sequences with 28 kb of DNA independently expressing both full-length dystrophin and beta-galactosidase. Proc Natl Acad Sci U S A. 1996 Jun 11; 93(12):5731-6. PMID: 8650161; PMCID: PMC39129.
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    25. Morsy MA, Zhao JZ, Ngo TT, Warman AW, O'Brien WE, Graham FL, Caskey CT. Patient selection may affect gene therapy success. Dominant negative effects observed for ornithine transcarbamylase in mouse and human hepatocytes. J Clin Invest. 1996 Feb 1; 97(3):826-32. PMID: 8609240; PMCID: PMC507121.
      View in: PubMed, PubMed Central
    26. Shumaker JM, Metspalu A, Caskey CT. Mutation detection by solid phase primer extension. Hum Mutat. 1996; 7(4):346-54. PMID: 8723685.
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    27. Timchenko LT, Timchenko NA, Caskey CT, Roberts R. Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy. Hum Mol Genet. 1996 Jan; 5(1):115-21. PMID: 8789448.
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    28. DeMarchi JM, Caskey CT, Richards CS. Population-specific screening by mutation analysis for diseases frequent in Ashkenazi Jews. Hum Mutat. 1996; 8(2):116-25. PMID: 8844209.
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    29. Clemens PR, Krause TL, Chan S, Korb KE, Graham FL, Caskey CT. Recombinant truncated dystrophin minigenes: construction, expression, and adenoviral delivery. Hum Gene Ther. 1995 Nov; 6(11):1477-85. PMID: 8573620.
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    30. Blackburn MR, Wakamiya M, Caskey CT, Kellems RE. Tissue-specific rescue suggests that placental adenosine deaminase is important for fetal development in mice. J Biol Chem. 1995 Oct 13; 270(41):23891-4. PMID: 7592575.
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    31. Rossiter BJ, Caskey CT. Presymptomatic testing for genetic diseases of later life. Pharmacoepidemiological considerations. Drugs Aging. 1995 Aug; 7(2):117-30. PMID: 7579783.
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    32. Mitani K, Wakamiya M, Hasty P, Graham FL, Bradley A, Caskey CT. Gene targeting in mouse embryonic stem cells with an adenoviral vector. Somat Cell Mol Genet. 1995 Jul; 21(4):221-31. PMID: 8525428.
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    33. Hammond HA, Redman JB, Caskey CT. In utero paternity testing following alleged sexual assault. A comparison of DNA-based methods. JAMA. 1995 Jun 14; 273(22):1774-7. PMID: 7769772.
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    34. Timchenko L, Nastainczyk W, Schneider T, Patel B, Hofmann F, Caskey CT. Full-length myotonin protein kinase (72 kDa) displays serine kinase activity. Proc Natl Acad Sci U S A. 1995 Jun 6; 92(12):5366-70. PMID: 7777513; PMCID: PMC41695.
      View in: PubMed, PubMed Central
    35. Zhao Z, Lee CC, Baldini A, Caskey CT. A human homologue of the Drosophila polarity gene frizzled has been identified and mapped to 17q21.1. Genomics. 1995 May 20; 27(2):370-3. PMID: 7558010.
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    36. Mitani K, Graham FL, Caskey CT, Kochanek S. Rescue, propagation, and partial purification of a helper virus-dependent adenovirus vector. Proc Natl Acad Sci U S A. 1995 Apr 25; 92(9):3854-8. PMID: 7731995; PMCID: PMC42060.
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    37. Alford RL, Redman JB, O'Brien WE, Caskey CT. Lesch-Nyhan syndrome: carrier and prenatal diagnosis. Prenat Diagn. 1995 Apr; 15(4):329-38. PMID: 7617574.
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    38. Zhao Z, Lee CC, Jiralerspong S, Juyal RC, Lu F, Baldini A, Greenberg F, Caskey CT, Patel PI. The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients. Hum Mol Genet. 1995 Apr; 4(4):589-97. PMID: 7633408.
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    39. Panzer S, Kuhl DP, Caskey CT. Unstable triplet repeat sequences: a source of cancer mutations? Stem Cells. 1995 Mar; 13(2):146-57. PMID: 7787780.
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    40. Timchenko L, Monckton DG, Caskey CT. Myotonic dystrophy: an unstable CTG repeat in a protein kinase gene. Semin Cell Biol. 1995 Feb; 6(1):13-9. PMID: 7620117.
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    41. Monckton DG, Caskey CT. Unstable triplet repeat diseases. Circulation. 1995 Jan 15; 91(2):513-20. PMID: 7805257.
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    42. Caskey CT. Genetic testing--improving health; calculating risk. Med Sect Proc. 1995; 35-7. PMID: 8677250.
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    43. Rossiter BJ, Caskey CT. Impact of the human genome project on medical practice. Ann Surg Oncol. 1995 Jan; 2(1):14-25. PMID: 7834449.
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    44. Monckton DG, Wong LJ, Ashizawa T, Caskey CT. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Hum Mol Genet. 1995 Jan; 4(1):1-8. PMID: 7711720.
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    45. Schofield JP, Caskey CT. Non-viral approaches to gene therapy. Br Med Bull. 1995 Jan; 51(1):56-71. PMID: 7539329.
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    46. Wong LJ, Ashizawa T, Monckton DG, Caskey CT, Richards CS. Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am J Hum Genet. 1995 Jan; 56(1):114-22. PMID: 7825566; PMCID: PMC1801291.
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    47. Pearlman JA, Powaser PA, Elledge SJ, Caskey CT. Troponin T is capable of binding dystrophin via a leucine zipper. FEBS Lett. 1994 Nov 7; 354(2):183-6. PMID: 7957921.
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    48. Mitani K, Graham FL, Caskey CT. Transduction of human bone marrow by adenoviral vector. Hum Gene Ther. 1994 Aug; 5(8):941-8. PMID: 7948143.
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    49. Hammond HA, Jin L, Zhong Y, Caskey CT, Chakraborty R. Evaluation of 13 short tandem repeat loci for use in personal identification applications. Am J Hum Genet. 1994 Jul; 55(1):175-89. PMID: 7912887; PMCID: PMC1918216.
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    50. Alford RL, Hammond HA, Coto I, Caskey CT. Rapid and efficient resolution of parentage by amplification of short tandem repeats. Am J Hum Genet. 1994 Jul; 55(1):190-5. PMID: 8023845; PMCID: PMC1918214.
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    51. Ashizawa T, Wong LJ, Richards CS, Caskey CT, Jankovic J. CAG repeat size and clinical presentation in Huntington's disease. Neurology. 1994 Jun; 44(6):1137-43. PMID: 8208412.
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    52. Wehnert MS, Matson RS, Rampal JB, Coassin PJ, Caskey CT. A rapid scanning strip for tri- and dinucleotide short tandem repeats. Nucleic Acids Res. 1994 May 11; 22(9):1701-4. PMID: 8202374; PMCID: PMC308052.
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    53. Timchenko L, Caskey CT. The "eRF" clone corresponds to tryptophanyl-tRNA synthetase, not mammalian release factor. Proc Natl Acad Sci U S A. 1994 Mar 29; 91(7):2777-80. PMID: 8146190; PMCID: PMC43453.
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    54. Faustinella F, Kwon H, Serrano F, Belmont JW, Caskey CT, Aguilar-Cordova E. A new family of murine retroviral vectors with extended multiple cloning sites for gene insertion. Hum Gene Ther. 1994 Mar; 5(3):307-12. PMID: 8018745.
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    55. Alford RL, Caskey CT. DNA analysis in forensics, disease and animal/plant identification. Curr Opin Biotechnol. 1994 Feb; 5(1):29-33. PMID: 7764640.
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    56. Wu X, Wakamiya M, Vaishnav S, Geske R, Montgomery C, Jones P, Bradley A, Caskey CT. Hyperuricemia and urate nephropathy in urate oxidase-deficient mice. Proc Natl Acad Sci U S A. 1994 Jan 18; 91(2):742-6. PMID: 8290593; PMCID: PMC43025.
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    57. Morsy MA, Caskey CT. Ornithine transcarbamylase deficiency: a model for gene therapy. Adv Exp Med Biol. 1994; 368:145-54. PMID: 7741006.
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    58. Alford RL, Rossiter BJ, Caskey CT. DNA diagnosis in monogenic diseases. Int J Technol Assess Health Care. 1994; 10(4):628-43. PMID: 7843883.
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    59. Clemens PR, Caskey CT. Gene therapy prospects for Duchenne muscular dystrophy. Eur Neurol. 1994; 34(4):181-5. PMID: 8082675.
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    60. Pizzuti A, Gennarelli M, Novelli G, Colosimo A, Lo Cicero S, Caskey CT, Dallapiccola B. Human elongation factor EF-1 beta: cloning and characterization of the EF1 beta 5a gene and assignment of EF-1 beta isoforms to chromosomes 2,5,15 and X. Biochem Biophys Res Commun. 1993 Nov 30; 197(1):154-62. PMID: 8250921.
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    61. Morsy MA, Mitani K, Clemens P, Caskey CT. Progress toward human gene therapy. JAMA. 1993 Nov 17; 270(19):2338-45. PMID: 8230597.
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    62. Pizzuti A, Friedman DL, Caskey CT. The myotonic dystrophy gene. Arch Neurol. 1993 Nov; 50(11):1173-9. PMID: 8215976.
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    63. Caskey CT. Presymptomatic diagnosis: a first step toward genetic health care. Science. 1993 Oct 1; 262(5130):48-9. PMID: 8211129.
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    64. Panzer SW, Hammond HA, Stephens L, Chai A, Caskey CT. Trinucleotide repeat polymorphism at D6S366. Hum Mol Genet. 1993 Sep; 2(9):1511. PMID: 8242091.
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    65. Rossiter BJ, Caskey CT. The human genome project. Clin Obstet Gynecol. 1993 Sep; 36(3):466-75. PMID: 8104748.
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    66. Wehnert M, Reiner O, Caskey CT. Four STR polymorphisms map to a 500 kb region between DXS15 and DXS134. Hum Mol Genet. 1993 Sep; 2(9):1503. PMID: 8242082.
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    67. Morsy MA, Alford EL, Bett A, Graham FL, Caskey CT. Efficient adenoviral-mediated ornithine transcarbamylase expression in deficient mouse and human hepatocytes. J Clin Invest. 1993 Sep; 92(3):1580-6. PMID: 8376608; PMCID: PMC288307.
      View in: PubMed, PubMed Central
    68. Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns WB, Caskey CT, Ledbetter DH. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature. 1993 Aug 19; 364(6439):717-21. PMID: 8355785.
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    69. Kuhl DP, Caskey CT. Trinucleotide repeats and genome variation. Curr Opin Genet Dev. 1993 Jun; 3(3):404-7. PMID: 8353413.
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    70. Lee CC, Pons F, Jones PG, Bies RD, Schlang AM, Leger JJ, Caskey CT. Mdx transgenic mouse: restoration of recombinant dystrophin to the dystrophic muscle. Hum Gene Ther. 1993 Jun; 4(3):273-81. PMID: 8338875.
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    71. Mitani K, Caskey CT. Delivering therapeutic genes--matching approach and application. Trends Biotechnol. 1993 May; 11(5):162-6. PMID: 7763805.
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    72. Redman JB, Fenwick RG, Fu YH, Pizzuti A, Caskey CT. Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. JAMA. 1993 Apr 21; 269(15):1960-5. PMID: 8464127.
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    73. Caskey CT. Molecular medicine. A spin-off from the helix. JAMA. 1993 Apr 21; 269(15):1986-92. PMID: 8464132.
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    74. Mitani K, Clemens PR, Moseley AB, Caskey CT. Gene transfer therapy for heritable disease: cell and expression targeting. Philos Trans R Soc Lond B Biol Sci. 1993 Feb 27; 339(1288):217-24. PMID: 8097051.
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    75. Mitani K, Wakamiya M, Caskey CT. Long-term expression of retroviral-transduced adenosine deaminase in human primitive hematopoietic progenitors. Hum Gene Ther. 1993 Feb; 4(1):9-16. PMID: 8461384.
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    76. Moseley AB, Caskey CT. Prospects for human gene therapy. Genet Eng (N Y). 1993; 15:213-23. PMID: 7763842.
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    77. Rossiter BJ, Caskey CT. The human genome project and clinical medicine. Oncology (Williston Park). 1992 Nov; 6(11):61-8, 71; discussion 71, 75-6. PMID: 1445778.
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    78. Caskey CT. Antisense and differentiation. Ann N Y Acad Sci. 1992 Oct 28; 660:154-8. PMID: 1340118.
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    79. Ashizawa T, Dubel JR, Dunne PW, Dunne CJ, Fu YH, Pizzuti A, Caskey CT, Boerwinkle E, Perryman MB, Epstein HF, et al. Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat. Neurology. 1992 Oct; 42(10):1877-83. PMID: 1407566.
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    80. Clemens PR, Ward PA, Caskey CT, Bulman DE, Fenwick RG. Premature chain termination mutation causing Duchenne muscular dystrophy. Neurology. 1992 Sep; 42(9):1775-82. PMID: 1513469.
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    81. Bies RD, Caskey CT, Fenwick R. An intact cysteine-rich domain is required for dystrophin function. J Clin Invest. 1992 Aug; 90(2):666-72. PMID: 1644931; PMCID: PMC443149.
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    82. Pizzuti A, Pieretti M, Fenwick RG, Gibbs RA, Caskey CT. A transposon-like element in the deletion-prone region of the dystrophin gene. Genomics. 1992 Jul; 13(3):594-600. PMID: 1322353.
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    83. Bies RD, Friedman D, Roberts R, Perryman MB, Caskey CT. Expression and localization of dystrophin in human cardiac Purkinje fibers. Circulation. 1992 Jul; 86(1):147-53. PMID: 1617767.
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    84. Rossiter BJ, Stirpe NS, Caskey CT. Report of the MDA Gene Therapy Conference, Tucson, Arizona, September 27-28, 1991. Neurology. 1992 Jul; 42(7):1413-8. PMID: 1620357.
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    85. Chamberlain JS, Chamberlain JR, Fenwick RG, Ward PA, Caskey CT, Dimnik LS, Bech-Hansen NT, Hoar DI, Richards S, Covone AE, Govanni R, Abbs S, Bentley DR, Bobrow M, Rysiecki G, Ray PN, Boileau C, Junien C, Boehm C, Venne VL, Fujmura FK, Spiga I, Ferrari M, Tedeschi S, Bakker E, Kneppers AL, van Ommen GJ, Jain K, Spector E, Crandall B, Kiuru A, Savontaus ML, Caskey CT, Chamberlain JS, Chamberlain JR, Rysiecki G. Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study. JAMA. 1992 May 20; 267(19):2609-15. PMID: 1573747.
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    86. Caskey CT, Pizzuti A, Fu YH, Fenwick RG, Nelson DL. Triplet repeat mutations in human disease. Science. 1992 May 8; 256(5058):784-9. PMID: 1589758.
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    87. Kilimann MW, Pizzuti A, Grompe M, Caskey CT. Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR. Hum Genet. 1992 May; 89(3):253-8. PMID: 1601417.
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    88. Bies RD, Phelps SF, Cortez MD, Roberts R, Caskey CT, Chamberlain JS. Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart, and brain development. Nucleic Acids Res. 1992 Apr 11; 20(7):1725-31. PMID: 1579466; PMCID: PMC312263.
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    89. Grompe M, Pieretti M, Caskey CT, Ballabio A. The sulfatase gene family: cross-species PCR cloning using the MOPAC technique. Genomics. 1992 Apr; 12(4):755-60. PMID: 1572648.
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    90. Caskey CT, Rossiter BJ. 9th Ernst Klenk Lecture. Molecular medicine. Biol Chem Hoppe Seyler. 1992 Apr; 373(4):159-70. PMID: 1596357.
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    91. Edwards A, Hammond HA, Jin L, Caskey CT, Chakraborty R. Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics. 1992 Feb; 12(2):241-53. PMID: 1740333.
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    92. Grompe M, Jones SN, Loulseged H, Caskey CT. Retroviral-mediated gene transfer of human ornithine transcarbamylase into primary hepatocytes of spf and spf-ash mice. Hum Gene Ther. 1992 Feb; 3(1):35-44. PMID: 1562638.
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    93. Caskey CT, Rossiter BJ. The human genome project. Purpose and potential. J Pharm Pharmacol. 1992 Feb; 44 Suppl 1:198-204. PMID: 1348284.
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    94. Lee CC, Caskey CT. Direct complementary DNA cloning using polymerase chain reaction. Methods Enzymol. 1992; 216:69-72. PMID: 1282648.
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    95. Wu XW, Muzny DM, Lee CC, Caskey CT. Two independent mutational events in the loss of urate oxidase during hominoid evolution. J Mol Evol. 1992 Jan; 34(1):78-84. PMID: 1556746.
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    96. Grompe M, Rao N, Elder FF, Caskey CT, Greenberg F. 45,X/46,X,+r(X) can have a distinct phenotype different from Ullrich-Turner syndrome. Am J Med Genet. 1992 Jan 1; 42(1):39-43. PMID: 1339199.
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    97. Jones SN, Jones PG, Ibarguen H, Caskey CT, Craigen WJ. Induction of the Cyp1a-1 dioxin-responsive enhancer in transgenic mice. Nucleic Acids Res. 1991 Dec 11; 19(23):6547-51. PMID: 1754392; PMCID: PMC329216.
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    98. Huang TH, Hejtmancik JF, Edwards A, Pettigrew AL, Herrera CA, Hammond HA, Caskey CT, Zoghbi HY, Ledbetter DH. Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26). Am J Hum Genet. 1991 Dec; 49(6):1312-9. PMID: 1746558; PMCID: PMC1686460.
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    99. Edwards A, Caskey CT. Genetic marker technology. Curr Opin Biotechnol. 1991 Dec; 2(6):818-22. PMID: 1367954.
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    100. Clemens PR, Fenwick RG, Chamberlain JS, Gibbs RA, de Andrade M, Chakraborty R, Caskey CT. Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet. 1991 Nov; 49(5):951-60. PMID: 1928100; PMCID: PMC1683265.
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    101. Caskey CT. American Society of Human Genetics presidential address, October 18, 1990. Am J Hum Genet. 1991 Nov; 49(5):911-6. PMID: 1928096; PMCID: PMC1683252.
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    102. Caskey CT. Physician-laboratory interface in X-chromosome mapping. Hosp Pract (Off Ed). 1991 Oct 15; 26(10):131-8, 141-2, 144. PMID: 1918192.
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    103. Edwards A, Civitello A, Hammond HA, Caskey CT. DNA typing and genetic mapping with trimeric and tetrameric tandem repeats. Am J Hum Genet. 1991 Oct; 49(4):746-56. PMID: 1897522; PMCID: PMC1683171.
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    104. Taylor LD, Krizman DB, Jankovic J, Hayani A, Steuber PC, Greenberg F, Fenwick RG, Caskey CT. 9p monosomy in a patient with Gilles de la Tourette's syndrome. Neurology. 1991 Sep; 41(9):1513-5. PMID: 1679912.
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    105. Pieretti M, Zhang FP, Fu YH, Warren ST, Oostra BA, Caskey CT, Nelson DL. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell. 1991 Aug 23; 66(4):817-22. PMID: 1878973.
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    106. Pettigrew AL, Greenberg F, Caskey CT, Ledbetter DH. Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13. Hum Genet. 1991 Aug; 87(4):452-6. PMID: 1879832.
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    107. Nelson DL, Ballabio A, Victoria MF, Pieretti M, Bies RD, Gibbs RA, Maley JA, Chinault AC, Webster TD, Caskey CT. Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: identification of clones associated with a disease locus. Proc Natl Acad Sci U S A. 1991 Jul 15; 88(14):6157-61. PMID: 2068096; PMCID: PMC52041.
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    108. Chamberlain JS, Farwell NJ, Chamberlain JR, Cox GA, Caskey CT. PCR analysis of dystrophin gene mutation and expression. J Cell Biochem. 1991 Jul; 46(3):255-9. PMID: 1774226.
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    109. Hughes MR, Caskey CT. Medical genetics. JAMA. 1991 Jun 19; 265(23):3132-4. PMID: 2041126.
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    110. Caskey CT. A genome approach to the human X chromosome. Curr Opin Genet Dev. 1991 Jun; 1(1):20-4. PMID: 1688121.
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    111. Grompe M, Caskey CT, Fenwick RG. Improved molecular diagnostics for ornithine transcarbamylase deficiency. Am J Hum Genet. 1991 Feb; 48(2):212-22. PMID: 1671317; PMCID: PMC1683033.
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    112. Rossiter BJ, Fuscoe JC, Muzny DM, Fox M, Caskey CT. The Chinese hamster HPRT gene: restriction map, sequence analysis, and multiplex PCR deletion screen. Genomics. 1991 Feb; 9(2):247-56. PMID: 2004774.
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    113. Scarpa M, Cournoyer D, Muzny DM, Moore KA, Belmont JW, Caskey CT. Characterization of recombinant helper retroviruses from Moloney-based vectors in ecotropic and amphotropic packaging cell lines. Virology. 1991 Feb; 180(2):849-52. PMID: 1989392.
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    114. Lee CC, Pearlman JA, Chamberlain JS, Caskey CT. Expression of recombinant dystrophin and its localization to the cell membrane. Nature. 1991 Jan 24; 349(6307):334-6. PMID: 1824797.
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    115. Rossiter BJ, Caskey CT. Molecular studies of human genetic disease. FASEB J. 1991 Jan; 5(1):21-7. PMID: 1846832.
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    116. Cournoyer D, Scarpa M, Mitani K, Moore KA, Markowitz D, Bank A, Belmont JW, Caskey CT. Gene transfer of adenosine deaminase into primitive human hematopoietic progenitor cells. Hum Gene Ther. 1991; 2(3):203-13. PMID: 1751590.
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    117. Grompe M, Mitani K, Lee CC, Jones SN, Caskey CT. Gene therapy in man and mice: adenosine deaminase deficiency, ornithine transcarbamylase deficiency, and Duchenne muscular dystrophy. Adv Exp Med Biol. 1991; 309B:51-6. PMID: 1781405.
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    118. Moore KA, Scarpa M, Kooyer S, Utter A, Caskey CT, Belmont JW. Evaluation of lymphoid-specific enhancer addition or substitution in a basic retrovirus vector. Hum Gene Ther. 1991; 2(4):307-15. PMID: 1838933.
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    119. Cournoyer D, Scarpa M, Caskey CT. Gene therapy. Curr Opin Biotechnol. 1990 Dec; 1(2):196-208. PMID: 1367857.
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    120. Rossiter BJ, Muzny DM, Hampson I, Caskey CT, Fox M. Induced reversion of a spontaneous point mutation within the Chinese hamster HPRT gene to the wild-type sequence. Mutagenesis. 1990 Nov; 5(6):605-8. PMID: 1702179.
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    121. Grompe M, Jones SN, Caskey CT. Molecular detection and correction of ornithine transcarbamylase deficiency. Trends Genet. 1990 Oct; 6(10):335-9. PMID: 2281529.
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    122. Jones SN, Grompe M, Munir MI, Veres G, Craigen WJ, Caskey CT. Ectopic correction of ornithine transcarbamylase deficiency in sparse fur mice. J Biol Chem. 1990 Aug 25; 265(24):14684-90. PMID: 2387875.
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    123. Corbo L, Maley JA, Nelson DL, Caskey CT. Direct cloning of human transcripts with HnRNA from hybrid cell lines. Science. 1990 Aug 10; 249(4969):652-5. PMID: 2382140.
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    124. Rossiter BJ, Caskey CT. Molecular scanning methods of mutation detection. J Biol Chem. 1990 Aug 5; 265(22):12753-6. PMID: 2198276.
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    125. Munir MI, Rossiter BJ, Caskey CT. Antisense RNA production in transgenic mice. Somat Cell Mol Genet. 1990 Jul; 16(4):383-94. PMID: 2218725.
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    126. Stout JT, Caskey CT. Antisense RNA inhibition of HPRT synthesis. Somat Cell Mol Genet. 1990 Jul; 16(4):369-82. PMID: 2218724.
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    127. Craigen WJ, Lee CC, Caskey CT. Recent advances in peptide chain termination. Mol Microbiol. 1990 Jun; 4(6):861-5. PMID: 2215213.
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    128. Ballabio A, Ranier JE, Chamberlain JS, Zollo M, Caskey CT. Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification. Hum Genet. 1990 May; 84(6):571-3. PMID: 2338343.
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    129. Lee CC, Craigen WJ, Muzny DM, Harlow E, Caskey CT. Cloning and expression of a mammalian peptide chain release factor with sequence similarity to tryptophanyl-tRNA synthetases. Proc Natl Acad Sci U S A. 1990 May; 87(9):3508-12. PMID: 2185472; PMCID: PMC53930.
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    130. Edwards A, Voss H, Rice P, Civitello A, Stegemann J, Schwager C, Zimmermann J, Erfle H, Caskey CT, Ansorge W. Automated DNA sequencing of the human HPRT locus. Genomics. 1990 Apr; 6(4):593-608. PMID: 2341149.
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    131. Cournoyer D, Scarpa M, Jones SN, Moore KA, Belmont JW, Caskey CT. Gene therapy: a new approach for the treatment of genetic disorders. Clin Pharmacol Ther. 1990 Jan; 47(1):1-11. PMID: 1967233.
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    132. Wu XW, Lee CC, Muzny DM, Caskey CT. Urate oxidase: primary structure and evolutionary implications. Proc Natl Acad Sci U S A. 1989 Dec; 86(23):9412-6. PMID: 2594778; PMCID: PMC298506.
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    133. Grompe M, Gibbs RA, Chamberlain JS, Caskey CT. Detection of new mutation disease in man and mouse. Mol Biol Med. 1989 Dec; 6(6):511-21. PMID: 2699510.
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    134. Nelson DL, Ledbetter SA, Corbo L, Victoria MF, Ramírez-Solis R, Webster TD, Ledbetter DH, Caskey CT. Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources. Proc Natl Acad Sci U S A. 1989 Sep; 86(17):6686-90. PMID: 2771952; PMCID: PMC297910.
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    135. Grompe M, Muzny DM, Caskey CT. Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage. Proc Natl Acad Sci U S A. 1989 Aug; 86(15):5888-92. PMID: 2474822; PMCID: PMC297736.
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    136. Gibbs RA, Nguyen PN, Caskey CT. Detection of single DNA base differences by competitive oligonucleotide priming. Nucleic Acids Res. 1989 Apr 11; 17(7):2437-48. PMID: 2717399; PMCID: PMC317634.
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    137. Baumbach LL, Chamberlain JS, Ward PA, Farwell NJ, Caskey CT. Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies. Neurology. 1989 Apr; 39(4):465-74. PMID: 2927671.
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    138. MacGregor GR, Caskey CT. Construction of plasmids that express E. coli beta-galactosidase in mammalian cells. Nucleic Acids Res. 1989 Mar 25; 17(6):2365. PMID: 2495524; PMCID: PMC317613.
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    139. Gibbs RA, Nguyen PN, McBride LJ, Koepf SM, Caskey CT. Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc Natl Acad Sci U S A. 1989 Mar; 86(6):1919-23. PMID: 2928313; PMCID: PMC286816.
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    140. Ward PA, Hejtmancik JF, Witkowski JA, Baumbach LL, Gunnell S, Speer J, Hawley P, Tantravahi U, Caskey CT. Prenatal diagnosis of Duchenne muscular dystrophy: prospective linkage analysis and retrospective dystrophin cDNA analysis. Am J Hum Genet. 1989 Feb; 44(2):270-81. PMID: 2643315; PMCID: PMC1715396.
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    141. Moore KA, Fletcher FA, Alford RL, Villalon DK, Hawkins DH, MacGregor GR, Caskey CT, Belmont JW. Expression vectors for human adenosine deaminase gene therapy. Genome. 1989; 31(2):832-9. PMID: 2576653.
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    142. Smith RJ, Holcomb JD, Daiger SP, Caskey CT, Pelias MZ, Alford BR, Fontenot DD, Hejtmancik JF. Exclusion of Usher syndrome gene from much of chromosome 4. Cytogenet Cell Genet. 1989; 50(2-3):102-6. PMID: 2776474.
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    143. Gibbs RA, Caskey CT. The application of recombinant DNA technology for genetic probing in epidemiology. Annu Rev Public Health. 1989; 10:27-48. PMID: 2655634.
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    144. Lee CC, Wu XW, Caskey CT. Cloning the full-length cDNA for the porcine urate oxidase by the MOPAC generated probe. Adv Exp Med Biol. 1989; 253A:499-505. PMID: 2624230.
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    145. Edwards A, Gibbs RA, Nguyen PN, Ansorge W, Caskey CT. Automated DNA sequencing methods for detection and analysis of mutations: applications to the Lesch-Nyhan syndrome. Trans Assoc Am Physicians. 1989; 102:185-94. PMID: 2638525.
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    146. Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 1988 Dec 9; 16(23):11141-56. PMID: 3205741; PMCID: PMC339001.
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    147. Belmont JW, MacGregor GR, Wager-Smith K, Fletcher FA, Moore KA, Hawkins D, Villalon D, Chang SM, Caskey CT. Expression of human adenosine deaminase in murine hematopoietic cells. Mol Cell Biol. 1988 Dec; 8(12):5116-25. PMID: 3072474; PMCID: PMC365613.
      View in: PubMed, PubMed Central
    148. Lee CC, Kohara Y, Akiyama K, Smith CL, Craigen WJ, Caskey CT. Rapid and precise mapping of the Escherichia coli release factor genes by two physical approaches. J Bacteriol. 1988 Oct; 170(10):4537-41. PMID: 3049538; PMCID: PMC211487.
      View in: PubMed, PubMed Central
    149. Caskey CT, Gibbs RA, Witkowski JA, Hejtmancik JF. Diagnosis of human heritable defects by recombinant DNA methods. Philos Trans R Soc Lond B Biol Sci. 1988 Jun 15; 319(1194):353-60. PMID: 2900528.
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    150. Chamberlain JS, Pearlman JA, Muzny DM, Gibbs RA, Ranier JE, Caskey CT, Reeves AA. Expression of the murine Duchenne muscular dystrophy gene in muscle and brain. Science. 1988 Mar 18; 239(4846):1416-8. PMID: 3347839.
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    151. Lee CC, Wu XW, Gibbs RA, Cook RG, Muzny DM, Caskey CT. Generation of cDNA probes directed by amino acid sequence: cloning of urate oxidase. Science. 1988 Mar 11; 239(4845):1288-91. PMID: 3344434.
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    152. Scherer SE, Veres G, Caskey CT. The genetic structure of mouse ornithine transcarbamylase. Nucleic Acids Res. 1988 Feb 25; 16(4):1593-601. PMID: 2831503; PMCID: PMC336337.
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    153. Fletcher FA, Moore KA, MacGregor GR, Belmont JW, Caskey CT. Human gene expression in murine hemopoietic cells in vivo. Adv Exp Med Biol. 1988; 241:123-7. PMID: 3223402.
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    154. Chamberlain JS, Grant SG, Reeves AA, Mullins LJ, Stephenson DA, Hoffman EP, Monaco AP, Kunkel LM, Caskey CT, Chapman VM. Regional localization of the murine Duchenne muscular dystrophy gene on the mouse X chromosome. Somat Cell Mol Genet. 1987 Nov; 13(6):671-8. PMID: 2890215.
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    155. Craigen WJ, Caskey CT. The function, structure and regulation of E. coli peptide chain release factors. Biochimie. 1987 Oct; 69(10):1031-41. PMID: 3126822.
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    156. Yang TP, Caskey CT. Nuclease sensitivity of the mouse HPRT gene promoter region: differential sensitivity on the active and inactive X chromosomes. Mol Cell Biol. 1987 Aug; 7(8):2994-8. PMID: 2823112; PMCID: PMC367922.
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    157. Caskey CT. Lesch-Nyhan syndrome: mutation, prevention, and therapy. Res Publ Assoc Res Nerv Ment Dis. 1987; 65:187-94. PMID: 3330841.
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    158. Chang SM, Caskey CT. Prospects for gene replacement therapy. Birth Defects Orig Artic Ser. 1987; 23(3):297-321. PMID: 3307937.
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    159. Michels VV, Dutton RV, Caskey CT. Mucolipidosis II: unusual presentation with a congenital angulated fracture. Clin Genet. 1982 Apr; 21(4):225-7. PMID: 7105472.
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    160. Di Ferrante N, Ginsberg LC, Donnelly PV, Di Ferrante DT, Caskey CT. Deficiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatases are responsible for different mucopolysaccharidoses. Science. 1978 Jan 6; 199(4324):79-81. PMID: 17569489.
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    161. Scolnick EM, Caskey CT. Genetic punctuation signals. Lancet. 1969 Sep 13; 2(7620):597. PMID: 4185561.
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    162. Caskey CT, Redfield B, Weissbach H. Formylation of guinea pig liver methionyl-sRNA. Arch Biochem Biophys. 1967 Apr; 120(1):119-23. PMID: 4860464.
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