Recent Publications

2001  2000  1999  1998  1997  1996  1995  1994 

2001

1. Cai WW, Chen R, Gibbs RA, Bradley A. A clone-array pooled shotgun strategy for sequencing large genomes. Genome Res. 2001 Oct;11(10):1619-23.

2. Cai WW, Chow CW, Damani S, Gregory SG, Marra M, Bradley A. An SSLP marker-anchored BAC framework map of the mouse genome. Nat Genet. 2001 Oct;29(2):133-4.

3. Yu Y, Bradley A. Engineering chromosomal rearrangements in mice. Nat Rev Genet. 2001 Oct;2(10):780-90. Review.

4. Zheng B, Albrecht U, Kaasik K, Sage M, Lu W, Vaishnav S, Li Q, Sun ZS, Eichele G, Bradley A, Lee CC. Nonredundant roles of the mPer1 and mPer2 genes in the mammalian circadian clock. Cell. 2001 Jun 1;105(5):683-94.

5. Zheng B, Mills AA, Bradley A. Introducing defined chromosomal rearrangements into the mouse genome. Methods. 2001 May;24(1):81-94.

6. Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, Jurecic V, Ogunrinu G, Sutherland HF, Scambler PJ, Bradley A, Baldini A. Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature. 2001 Mar 1;410(6824):97-101.

7. Klysik J. Concept of immunomics: a new frontier in the battle for gene function? Acta Biotheor. 2001;49(3):191-202.

8. Inoue K, Kanai M, Tanabe Y, Kubota T, Kashork CD, Wakui K, Fukushima Y, Lupski JR, Shaffer LG.Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease.Prenat Diagn. 2001 Dec;21(13):1133-6.

9. Inoue K, Tanaka H, Scaglia F, Araki A, Shaffer LG, Lupski JR.Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement.Ann Neurol. 2001 Dec;50(6):747-54.

10. Shroyer NF, Lewis RA, Yatsenko AN, Wensel TG, Lupski JR. Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration. Hum Mol Genet. 2001 Nov 1;10(23):2671-8.

11. Shroyer NF, Lewis RA, Yatsenko AN, Lupski JR. Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2001 Nov;42(12):2757-61.

12. Stockton DW, Meade RA, Netscher DT, Epstein MJ, Shenaq SM, Shaffer LG, Lupski JR. Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome.Arch Neurol. 2001 Oct;58(10):1635-7.

13. Katsanis N, Lupski JR, Beales PL. Exploring the molecular basis of Bardet-Biedl syndrome.Hum Mol Genet. 2001 Oct 1;10(20):2293-9. Review.

14. Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, Scambler PJ, Davidson WS, Beales PL, Lupski JR. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science. 2001 Sep 21;293(5538):2256-9.

15. Takashima H, Boerkoel CF, Lupski JR. Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy. Genet Med. 2001 Sep-Oct;3(5):335-42.

16. Katsanis N, Worley KC, Lupski JR. An evaluation of the draft human genome sequence. Nat Genet. 2001 Sep;29(1):88-91.

17. Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR. EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. Neurogenetics. 2001 Jul;3(3):153-7.

18. Katsanis N, Shroyer NF, Lewis RA, Cavender JC, Al-Rajhi AA, Jabak M, Lupski JR. Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. Clin Genet. 2001 Jun;59(6):424-9.

19. Stankiewicz P, Park SS, Inoue K, Lupski JR. The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP. Genome Res. 2001 Jul;11(7):1205-10.

20. Shroyer NF, Lewis RA, Lupski JR. Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease? Am J Ophthalmol. 2001 Jun;131(6):761-6.

21. Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR, Birren B.The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Genome Res. 2001 Jun;11(6):1018-33.

22. Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR. Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). Hum Genet. 2001 Apr;108(4):346-55.

23. Badano JL, Inoue K, Katsanis N, Lupski JR. New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis. Clin Chem. 2001 May;47(5):838-43.

24. Beales PL, Katsanis N, Lewis RA, Ansley SJ, Elcioglu N, Raza J, Woods MO, Green JS, Parfrey PS, Davidson WS,Lupski JR. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. Am J Hum Genet. 2001 Mar;68(3):606-16.

25. Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR. Periaxin mutations cause recessive Dejerine-Sottas neuropathy.Am J Hum Genet. 2001 Feb;68(2):325-33.

26. Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, Zonana J, Overbeek PA.Gene defect in ectodermal dysplasia implicates a death domain adapter in development.Nature. 2001 Dec 20-27;414(6866):913-6.

27. Brayton C, Justice M, Montgomery CA. Evaluating mutant mice: anatomic pathology.Vet Pathol. 2001 Jan;38(1):1-19. Review.

28. Cabeza-Arvelaiz Y, Thompson TC, Sepulveda JL, Chinault AC. LAPSER1: a novel candidate tumor suppressor gene from 10q24.3. Oncogene. 2001 Oct 11;20(46):6707-17.

29. Cabeza-Arvelaiz Y, Sepulveda JL, Lebovitz RM, Thompson TC, Chinault AC. Functional identification of LZTS1 as a candidate prostate tumor suppressor gene on human chromosome 8p22. Oncogene. 2001 Jul 12;20(31):4169-79.

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    2000

30. Luo G, Santoro IM, McDaniel LD, Nishijima I, Mills M, Youssoufian H, Vogel H, Schultz RA, Bradley A. Cancer predisposition caused by elevated mitotic recombination in bloom mice. Nat Genet. 2000 Dec;26(4):424-9. Abstract

31. Chen YT, Bradley A. A new positive/negative selectable marker, puDeltatk, for use in embryonic stem cells. Genesis. 2000 Sep;28(1):31-5. Abstract

32. Pershouse M, Li J, Yang C, Su H, Brundage E, Di W, Biggs PJ, Bradley A, Chinault AC. BAC contig from a 3-cM region of mouse chromosome 11 surrounding brca1. Genomics. 2000 Oct 1;69(1):139-42. Abstract

33. Liu Q, Guntuku S, Cui XS, Matsuoka S, Cortez D, Tamai K, Luo G, Carattini-Rivera S, DeMayo F, Bradley A, Donehower LA, Elledge SJ. Chk1 is an essential kinase that is regulated by Atr and required for the G(2)/M DNA damage checkpoint. Genes Dev. 2000 Jun 15;14(12):1448-59. Abstract

34. Abuin A, Zhang H, Bradley A. Genetic analysis of mouse embryonic stem cells bearing Msh3 and Msh2 single and compound mutations. Mol Cell Biol. 2000 Jan;20(1):149-57. Abstract

35. Hansen GM, Skapura D, Justice MJ. Genetic profile of insertion mutations in mouse leukemias and lymphomas. Genome Res. 2000 Feb;10(2):237-43. Abstract

36. Denny P, Justice MJ. Mouse as the measure of man? Trends Genet. 2000 Jul;16(7):283-7. Review. Abstract

37. Hansen GM, Skapura D, Justice MJ. Genetic profile of insertion mutations in mouse leukemias and lymphomas. Genome Res. 2000 Feb;10(2):237-43. Abstract

38. Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR. Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy. Am J Hum Genet. 2000 Dec 15 [epub ahead of print] Abstract

39. Shaffer LG, Lupski JR. MOLECULAR MECHANISMS FOR CONSTITUTIONAL CHROMOSOMAL REARRANGEMENTS IN HUMANS. Annu Rev Genet. 2000;34:297-329. Abstract

40. Katsanis N, Venable S, Smith JR, Lupski JR. Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13. Hum Genet. 2000 Jan;106(1):66-72. Abstract

41. Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, Davidson WS, Lupski JR. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with bardet-biedl syndrome. Nat Genet. 2000 Sep;26(1):67-70. No abstract available. Abstract

42. Britton RA, Chen SM, Wallis D, Koeuth T, Powell BS, Shaffer LG, Largaespada D, Jenkins NA, Copeland NG, Court DL, Lupski JR. Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene era. Genomics. 2000 Jul 1;67(1):78-82. Abstract

43. Lewis RA, Lupski JR. Macular degeneration: the emerging genetics. Hosp Pract (Off Ed). 2000 Jun 15;35(6):41-50, 56-8. Review. Abstract

44. Potocki L, Glaze D, Tan DX, Park SS, Kashork CD, Shaffer LG, Reiter RJ, Lupski JR. Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome. J Med Genet. 2000 Jun;37(6):428-33. Abstract

45. Lupski JR. Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L). Am J Hum Genet. 2000 Jul;67(1):8-10. No abstract available. Abstract

46. Abidari JM, Gonzales ET, Inoue K, Lupski JR, Karsenty G, Katsanis N. Identification of novel genes expressed during metanephric induction through single-cell library screening. Kidney Int. 2000 Jun;57(6):2221-8. Abstract

47. Shroyer NF, Lewis RA, Lupski JR. Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.Hum Genet. 2000 Feb;106(2):244-8. Abstract

48. Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, Astle WF, Lupski JR. Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum Mol Genet. 2000 Feb 12;9(3):367-74. Abstract

49. Gutierrez A, England JD, Sumner AJ, Ferer S, Warner LE, Lupski JR, Garcia CA. Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease. Muscle Nerve. 2000 Feb;23(2):182-8. Abstract

50. Lupski JR. Recessive Charcot-Marie-tooth disease. Ann Neurol. 2000 Jan;47(1):6-8. No abstract available. Abstract

51. Boggs BA, Allis CD, Chinault AC. Immunofluorescent studies of human chromosomes with antibodies against phosphorylated H1 histone. Chromosoma. 2000 Mar;108(8):485-90. Abstract

52. Davis, A. P., and Justice, M. J. 2000. Ethylnitrosourea (ENU) as a genetic tool in mouse mutagenesis. Encyclopedia of Genetics, E.C.R. Reeve, Editor, Fitzroy Dearborn Publishers, London. In press.

53. Noveroske, J. N., Weber, J. S., and Justice, M. J. (2000). The mutagenic action of N-ethyl-N-nitrosourea (ENU) in the mouse, an invited review for Mammalian Genome 11(7):478-483. Abstract

54. Justice, M. J., Carpenter, D. A., Favor, J. , Neuhauser-Klaus, A., Hrabe de Angelis, M., Moser, A., Cordes, S., Rinchik, E. M., Hunsicker, P., Russell, W. L., Miller, D., Chapman, V., Weber, J. S., and Bode, V. C. (2000). Effects of ENU dosage on mouse strains. Mammalian Genome 11(7):484-488 Abstract

55. Weber, J. S., Salinger, A., and Justice, M. J. (2000). Optimal N-ethyl-N-nitrosourea (ENU) doses for inbred mouse strains. Genesis 26(4):230-3. Abstract

56. Su H, Wang X, Bradley A (2000). Nested chromosomal deletions induced with retroviral vectors in mice. Nat Genet. 24(1):92-95 Abstract

57. Zheng B, Sage M, Sheppeard EA, Jurecic V, Bradley A (2000). Engineering Mouse Chromosomes with Cre-loxP: Range, Efficiency, and Somatic Applications. Mol Cell Biol. 20(2):648-655 Abstract

58. Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR (2000). Molecular mechanism for duplication 17p11.2 -- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet. 24(1):84-7. Abstract

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    1999

59. Justice, M. J., Noveroske, J. N., Weber, J. S., Zheng, B., and Bradley, A. 1999. Mouse ENU Mutagenesis. Hum Mol Genet. 8:1955-1963. Abstract

60. Justice, M. J. 1999. Mouse Germline Mutagenesis. Mouse Genetics and Transgenics: A Practical Approach. Ian Jackson and Cathy Abbott, Editors, Oxford University Press, Oxford, pp 185-215.

61. Cox, R. D., Hugill, A., Shedlovsky, A., Noveroske, J. K., Justice, M. J., Lehrach, H. and Dove, W. F. 1999. Contrasting effects of ENU-induced embryonic lethal mutations of the quaking gene. Genomics. 57:333-341. Abstract

62. Davis, A. P., Woychik, R. P., and Justice, M. J. 1999. Effective chemical mutagenesis in FVB/N mice requires low doses of ethylnitrosourea. Mammalian Genome. 10: 308-310. Abstract

63. Klysik J, Cai WW, Yang C, Bradley A (1999). An integrated gene and SSLP BAC map framework of mouse chromosome 11. Genomics. 62(1):123-8. Abstract

64. Zheng B, Sage M, Cai WW, Thompson DM, Tavsanli BC, Cheah YC, Bradley A (1999). Engineering a mouse balancer chromosome. Nat Genet. 22(4):375-8. Abstract

65. Liu P, Wakamiya M, Shea MJ, Albrecht U, Behringer RR, Bradley A (1999). Requirement for Wnt3 in vertebrate axis formation. Nat Genet. 22(4):361-5. Abstract

66. Zheng B, Larkin DW, Albrecht U, Sun ZS, Sage M, Eichele G, Lee CC, Bradley A (1999). The mPer2 gene encodes a functional component of the mammalian circadian clock. Nature. 400(6740):169. Abstract

67. Mills AA, Zheng B, Wang XJ, Vogel H, Roop DR, Bradley A (1999). p63 is a p53 homologue required for limb and epidermal morphogenesis. Nature. 398(6729):708. Abstract

68. Zheng B, Mills AA and Bradley A (1999). A system for rapid generation of coat color tagged knockouts and defined chromosomal rearrangements in mice. Nucleic Acids Res. 27(11):2354. Abstract

69. Luo G, Yao MS, Bender CF, Mills M, Bladj AR, Bradley A and Petrini JHJ (1999). Disruption of mRad50 causes ES Cell lethality, abnormal embryonic development and sensitivity to ionizing radiation. PNAS. 96(13):7376. Abstract

70. Harriman GR, Bogue M, Rogers-Fani P, Finegold M, Pacheco S, Bradley A, Zhang Y and Mbawuike IN (1999). Targeted deletion of the IgA constant region in mice leads to Iga deficiency with alterations in expression of other immunoglobulin isotypes. Journal of Immunology, 162(5):2521. Abstract

71. Probst FJ, Chen KS, Zhao Q, Wang A, Friedman TB, Lupski JR, Camper SA. Zhang Y and Mbawuike IN (1999). A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2). Genomics. 55(3):348-52. Abstract

72. Potocki L, Chen K-S, Koeuth T, Killian J, Iannaccone ST, Shapira SK, Kashork CD, Spikes AS, Shaffer LG, Lupski JR (1999): DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of carpal tunnel syndrome. Am J Hum Genet. 64(2):471-8. Abstract

Potocki L, Chen KS, Lupski JR (1999). Subunit 3 of the COP9 signal transduction complex is conserved from plants to humans and maps within the smith-magenis syndrome critical region in 17p11.2. Genomics. 57(1):180-2. (No Abstract).

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1998

73. Prolla T, Baker SM, Harris AC, Tsao J-L, Yao X, Bronner CE, Zheng B, Gordon M, Reneker J, Arnheim N, Shibata D, Bradley A, and Liskay RM (1998). Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair. Nat Genet. 18, 276-279. Abstract

74. Bradley A and Liu P (1998). Engineering chromosomes in mice to facilitate the identification of tumour suppressor genes. In: Novel Systems for the Study of Human Disease from Basic Research to Application. OECD Proceedings .

75. Biggs P and Bradley A (1998). A step toward genotype-based therapeutic regimens for breast cancer in patients with BRCA2 mutations? Journal of the National Cancer Institute, 90(13), 951-953. Abstract

76. Venkatachalam S, Shi Y-P, Jones SN, Vogel H, Bradley A, Pinkel D, Donehower LA. (1998) Retention of wild type p53 allele in tumors from p53 heterozygous mice: reduction in p53 dosage can promote cancer formation. EMBO Journal 17: 4657-4667. Abstract

77. Ligon AH, Stickens D, Evans GA, Potocki L, Shaffer LG (1998): Candidate gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome. Am J Med Genet 75:538-540. Abstract

78. Prolla T, Baker SM, Harris AC, Tsao J-L, Yao X, Bronner CE, Zheng B, Gordon M, Reneker J, Arnheim N, Shibata D, Bradley A, and Liskay RM (1998). Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair. Nat. Genet. 18, 276-279. Abstract

79. Bradley A and Liu P (1998). Engineering chromosomes in mice to facilitate the identification of tumour suppressor genes. In: Novel Systems for the Study of Human Disease from Basic Research to Application. OECD Proceedings .

80. Cai W-W, Reneker J, Chow C-W, Vaishnav M, Bradley A (1998). An Anchored Framework BAC MAP of Mouse Chromosome 11 Assembled using Multiplex Oligonucleotide Hybridization. Genomics. 54(3):387-97.

81. Liu P, Zhang H, McLellen A, Vogel H and Bradley A (1998). Embrionic Lethality and Tumorogenesis caused by Segmental Aneuploidy on Mouse Chromosome 11. Genetics. 150(3):1155-68. Abstract

82. Ansari-Lari MA, Oeltjen JC, Schwartz S, Zhang Z, Muzny DM, Lu J, Gorrell JH, Chinault AC, Belmont JW, Miller W and Gibbs RA (1998) Comparative sequence analysis of a gene-rich cluster at human chromosome 12p13 and its syntenic region in mouse chromosome 6. Genome Res. 8:29-40. Abstract

83. Christian SL, Bhatt NK, Martin, SA, Sutcliffe JS, Kubota T, Huang B, Mutirangura A, Chinault AC, Beaudet AL and Ledbetter DH (1998) Integrated YAC STS-content map of the Prader-Willi/Angelman region on chromosome 15q11-q13 to an average 35 kb resolution. Genome Res. 8:146-157. Abstract

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    1997

84. Nussbaum RL, Orrison BM. Janne PA, Charnas L and Chinault AC (1997). Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. Hum Genet. 99:145-150. Abstract

85. Lanyi A, Li B, Li S, Talmadge CB, Brichacek B, Davis JR, Kozel BA, Trask B, van den Engh G, Uzvolgyi E, Stanbridge EJ, Nelson DL, Chinault C, Heslop H, Gross TG, Seemayer TA, Klein G, Purtiol DT and Sumegi J (1997). A yeast artificial chromosome (YAC) contig encompassing the critical region of the X-linked lymphoproliferative disease (XLP) locus. Genomics. 39:55-65. Abstract

86. Sharan SK, Morimatsu M, Albrecht U, Lim D-S, Regel E, Dinh C, Sands A, Eichele G, Hasty P and Bradley A (1997). Brca2 deficiency in mice results in embryonic lethality and Rad51-mediated radiation hypersensitivity. Nature, 386, 804-810. Abstract

87. Sharan SK and Bradley A (1997). Murine Brca2: Sequence, map position and expression pattern. Genomics , 40, 234-241. Abstract

88. Justice MJ, Zheng B, Woychik RP, and Bradley A (1997). Using targeted large deletions and high-efficiency N-Ethyl-N-nitrosourea mutagenesis for functional analyses of the mammalian genome. Methods in Enzymology, 13, 423-436. Abstract

89. Chen K-S, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, Lupski JR (1997): Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene syndrome. Nat Genet. 17:154-163 Abstract

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    1996

90. Ayyagari R, Nestorowicz A, Li Y, Chandrasekharappa S, Chinault C, van Tuinen P, Smith RJH, Hejtmancik J and Permutt MA (1996) Construction of a YAC contig encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on chromosome 11p14-15.1. Genome Res. 6:504-514. Abstract

91. Burgess R, Rawls A, Brown D, Bradley A, and Olson EN (1996). Requirement of the paraxis gene for somite formation and musculoskeletal patterning. Nature , 384, 570-573. Abstract

92. Prolla TA, Abuin A, and Bradley A (1996). DNA mismatch repair deficient mice in cancer research. Seminars in Cancer Biology , Vol. 7, 241-247. Abstract

93. Potocki L and Shaffer LG (1996): Interstitial deletion of 11(p11.2p12): A newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2). Am J Med Genet. 62:319-325. Abstract

94. Trask BJ, Mefford H, van den Engh G, Massa HF, Juyal RC, Potocki L, Finucane B, Abuelo DN, Witt DR, MagenisE, Baldini A, Greenberg F, Lupski JR, Patel PI (1996): Quantification by flow Cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients. Hum Genet. 98:710-718. Abstract

95. Greenberg F, Lewis RA, Potocki L, Glaze D, Parke J, Killian J, Murphy MA, Williamson D, Brown F, Dutton R, McCluggage C, Friedman E, Sulek M, Lupski JR (1996): A multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Am J Med Genet. 62:247-254 Abstract

96. Chen K-S, Potocki L, Lupski JR (1996): The Smith-Magenis syndrome [del(17)p11.2] Clinical review and molecular advances. In, The Molecular Medicine of Mental Retardation and Developmental Disabilities . ERB McCabe (Ed.) Mental Retardation and Developmental Research Reviews. Vol. 2(3): 122-129. Wiley-Liss, New York . Abstract

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    1995

97. Ferrero GB, Franco B, Roth EJ, Firulli BA, Borsani G, Delmas-Mata J, Weissenbach J, Halley G, Schlessinger D, Chinault AC, Zoghbi HY, Nelson DL and Ballabio A (1995). An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. Hum Mol Genet. 4:1821-1828. Abstract

98. Fairman J, Chumakov I, Chinault AC, Nowell PC and Nagarajan L (1995). Physical mapping of the minimal region of loss in 5q- chromosome. PNAS . 92:7406-7410. Abstract

99. Lee CC, Yazdani A, Wehnert M, Zhao ZY, Lindsay EA, Bailey J, Coolbaugh MI, Couch L, Xiong M, Chinault AC, Baldini A and Caskey CT (1995). Isolation of chromosome specific genes by reciprocal probing of arrayed cDNA and cosmid libraries. Hum Mol Genet. 4:1373-1380. Abstract

100. Wang I, Franco B, Ferrero GB, Chinault AC, Weissenbach J, Chumakov I, Le Paslier D, Levilliers J, Klink A, Rappold GA, Ballabio A and Petit C (1995). High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1). Genomics. 26:229-238. Abstract

101. Matzuk MM, Kumar TR, Vassalli A, Bickenbach JR, Roop DR, Jaenisch R, and Bradley A (1995). Functional analysis of activins during mammalian development. Nature. 374, 354-356. Abstract

102. Matzuk MM, Lu H, Vogel H, Sellheyer K, Roop DR, and Bradley A (1995). Multiple defects and perinatal death in mice deficient in follistatin. Nature. 374, 360-363. Abstract

103. Matzuk MM, Kumar TR, and Bradley A (1995). Different phenotypes for mice deficient in either activins or activin receptor type II. Nature. 374, 356-374. Abstract

104. Wakamiya M, Blackburn MR, Jurecic R, McArthur MJ, Geske RS, Cartwright J, Mitani K, Vaishnav S, Belmont JW, Kellems RE, Finegold MJ, Montgomery CA, Bradley A, and Caskey CT (1995). Disruption of the adenosine deaminase gene causes hepatocellular impairment and perinatal lethality in mice. PNAS. 92, 3673-3677. Abstract

105. Sands AT, Abuin A, Sanchez A, Conti CJ, and Bradley A (1995). High susceptiblility to ultraviolent-induced carcinogenesis in mice lacking XPC. Nature. 377, 162-165. Abstract

106. Wang N, Finegold MJ, Bradley A, Ou CN, Abdelsayed SV, Wilde MD, Taylor LR, Wilson DR, and Darlington GJ (1995). Impaired energy homeostasis in C/EBPa knockout mice. Science. 269, 1108-1112. Abstract

107. Jones SN, Roe AE, Donehower LA, and Bradley A (1995). Rescue of embryonic lethality in mdm-2 deficient mice by absence of p53. Nature. 378, 208-208. Abstract

108. Potocki L, Abuelo DN, Oyer CE (1995): Cardiac malformation in two infants with hypochondrogenesis. Am J Med Genet. 59:295-299. Abstract

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     1994

109. Potocki L, Townes PL, Woda BA, Rao SK, Shearin JP, Schwenn M (1994): Tetrasomy 21 in megakaryoblastic leukemia. Cancer Genet Cytogenet. 74:66-70. Abstract

110. Nagarajan L, Zavadil J, Claxton D, Lu X, Fairman J, Warrington JA, Wasmuth JJ, Chinault AC, Sever CE, Slovak ML, Willman CL and Deisseroth AB (1994). Consistent loss of the D5S89 locus mapping telomeric to the interleukin gene cluster and centromeric to EGR-1 in patients with 5q syndrome. Blood. 83:199-208. Abstract

111. Kuzmin I, Stackhouse T, Latif F, Duh F-M, Geil L, Gnarra J, Yao M, Orcutt ML, Li H, Tory K, Le Paslier D, Chumakov I, Cohen D, Chinault AC, Linehan WM, Lerman MI and Zbar B (1994) One-megabase yeast artificial chromosome and 400-kilobase cosmid-phage contigs containing the von Hippel-Lindau tumor suppressor and Ca2+ -transporting adenosine triphosphatase isoform 2 genes. Cancer Res. 54:2486-2491. Abstract