Belmont JW - Search Results

1

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.

Gambin T, Akdemir ZC, Yuan B, Gu S, Chiang T, Carvalho CMB, Shaw C, Jhangiani S, Boone PM, Eldomery MK, Karaca E, Bayram Y, Stray-Pedersen A, Muzny D, Charng WL, Bahrambeigi V, Belmont JW, Boerwinkle E, Beaudet AL, Gibbs RA, Lupski JR. Gambin T, et al. Among authors: belmont jw. Nucleic Acids Res. 2017 Feb 28;45(4):1633-1648. doi: 10.1093/nar/gkw1237. Nucleic Acids Res. 2017. PMID: 27980096 Free PMC article.

2

Characterization of recombinant helper retroviruses from Moloney-based vectors in ecotropic and amphotropic packaging cell lines.

Scarpa M, Cournoyer D, Muzny DM, Moore KA, Belmont JW, Caskey CT. Scarpa M, et al. Among authors: belmont jw. Virology. 1991 Feb;180(2):849-52. doi: 10.1016/0042-6822(91)90105-k. Virology. 1991. PMID: 1989392

3

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

4

Expression of human CD18 in murine granulocytes and improved efficiency for infection of deficient human lymphoblasts.

Wilson RW, Yorifuji T, Lorenzo I, Smith W, Anderson DC, Belmont JW, Beaudet AL. Wilson RW, et al. Among authors: belmont jw. Hum Gene Ther. 1993 Feb;4(1):25-34. doi: 10.1089/hum.1993.4.1-25. Hum Gene Ther. 1993. PMID: 8096398

5

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.

6

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.

7

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

8

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.

9

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

10

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.

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