Belmont JW - Search Results

1

Clan genomics and the complex architecture of human disease.

Lupski JR, Belmont JW, Boerwinkle E, Gibbs RA. Lupski JR, et al. Among authors: belmont jw. Cell. 2011 Sep 30;147(1):32-43. doi: 10.1016/j.cell.2011.09.008. Cell. 2011. PMID: 21962505 Free PMC article.

2

Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci.

Oeltjen JC, Liu X, Lu J, Allen RC, Muzny D, Belmont JW, Gibbs RA. Oeltjen JC, et al. Among authors: belmont jw. Mamm Genome. 1995 May;6(5):334-8. doi: 10.1007/BF00364796. Mamm Genome. 1995. PMID: 7626884

3

Large-scale comparative sequence analysis of the human and murine Bruton's tyrosine kinase loci reveals conserved regulatory domains.

Oeltjen JC, Malley TM, Muzny DM, Miller W, Gibbs RA, Belmont JW. Oeltjen JC, et al. Among authors: belmont jw. Genome Res. 1997 Apr;7(4):315-29. doi: 10.1101/gr.7.4.315. Genome Res. 1997. PMID: 9110171 Free article.

4

Comparative sequence analysis of a gene-rich cluster at human chromosome 12p13 and its syntenic region in mouse chromosome 6.

Ansari-Lari MA, Oeltjen JC, Schwartz S, Zhang Z, Muzny DM, Lu J, Gorrell JH, Chinault AC, Belmont JW, Miller W, Gibbs RA. Ansari-Lari MA, et al. Among authors: belmont jw. Genome Res. 1998 Jan;8(1):29-40. Genome Res. 1998. PMID: 9445485 Free article.

5

DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression.

Timms KM, Huckett LE, Belmont JW, Shapira SK, Gibbs RA. Timms KM, et al. Among authors: belmont jw. Hum Mutat. 1998;11(2):121-6. doi: 10.1002/(SICI)1098-1004(1998)11:2<121::AID-HUMU4>3.0.CO;2-M. Hum Mutat. 1998. PMID: 9482575

6

Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing.

Timms KM, Edwards FJ, Belmont JW, Yates JR, Gibbs RA. Timms KM, et al. Among authors: belmont jw. J Med Genet. 1998 Aug;35(8):646-9. doi: 10.1136/jmg.35.8.646. J Med Genet. 1998. PMID: 9719370 Free PMC article.

7

PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.

Maheshwari M, Belmont J, Fernbach S, Ho T, Molinari L, Yakub I, Yu F, Combes A, Towbin J, Craigen WJ, Gibbs R. Maheshwari M, et al. Hum Mutat. 2002 Oct;20(4):298-304. doi: 10.1002/humu.10129. Hum Mutat. 2002. PMID: 12325025

8

Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation.

Szigeti K, Saifi GM, Armstrong D, Belmont JW, Miller G, Lupski JR. Szigeti K, et al. Among authors: belmont jw. Ann Neurol. 2003 Sep;54(3):398-402. doi: 10.1002/ana.10681. Ann Neurol. 2003. PMID: 12953275

9

Genome-wide linkage disequilibrium and haplotype maps.

Belmont JW, Gibbs RA. Belmont JW, et al. Am J Pharmacogenomics. 2004;4(4):253-62. doi: 10.2165/00129785-200404040-00005. Am J Pharmacogenomics. 2004. PMID: 15287819 Review.

10

Highly multiplexed molecular inversion probe genotyping: over 10,000 targeted SNPs genotyped in a single tube assay.

Hardenbol P, Yu F, Belmont J, Mackenzie J, Bruckner C, Brundage T, Boudreau A, Chow S, Eberle J, Erbilgin A, Falkowski M, Fitzgerald R, Ghose S, Iartchouk O, Jain M, Karlin-Neumann G, Lu X, Miao X, Moore B, Moorhead M, Namsaraev E, Pasternak S, Prakash E, Tran K, Wang Z, Jones HB, Davis RW, Willis TD, Gibbs RA. Hardenbol P, et al. Genome Res. 2005 Feb;15(2):269-75. doi: 10.1101/gr.3185605. Genome Res. 2005. PMID: 15687290 Free PMC article.

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