Lupski JR - Search Results

1

Detection of clinically relevant copy number variants with whole-exome sequencing.

de Ligt J, Boone PM, Pfundt R, Vissers LE, Richmond T, Geoghegan J, O'Moore K, de Leeuw N, Shaw C, Brunner HG, Lupski JR, Veltman JA, Hehir-Kwa JY. de Ligt J, et al. Among authors: lupski jr. Hum Mutat. 2013 Oct;34(10):1439-48. doi: 10.1002/humu.22387. Epub 2013 Aug 30. Hum Mutat. 2013. PMID: 23893877

2

Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.

Roa BB, Warner LE, Garcia CA, Russo D, Lovelace R, Chance PF, Lupski JR. Roa BB, et al. Among authors: lupski jr. Hum Mutat. 1996;7(1):36-45. doi: 10.1002/(SICI)1098-1004(1996)7:1<36::AID-HUMU5>3.0.CO;2-N. Hum Mutat. 1996. PMID: 8664899

3

Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.

Warner LE, Shohat M, Shorer Z, Lupski JR. Warner LE, et al. Among authors: lupski jr. Hum Mutat. 1997;10(1):21-4. doi: 10.1002/(SICI)1098-1004(1997)10:1<21::AID-HUMU3>3.0.CO;2-P. Hum Mutat. 1997. PMID: 9222756

4

Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.

Park SS, Stankiewicz P, Bi W, Shaw C, Lehoczky J, Dewar K, Birren B, Lupski JR. Park SS, et al. Among authors: lupski jr. Genome Res. 2002 May;12(5):729-38. doi: 10.1101/gr.82802. Genome Res. 2002. PMID: 11997339 Free PMC article.

5

Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

Shaw CJ, Bi W, Lupski JR. Shaw CJ, et al. Among authors: lupski jr. Am J Hum Genet. 2002 Nov;71(5):1072-81. doi: 10.1086/344346. Epub 2002 Oct 9. Am J Hum Genet. 2002. PMID: 12375235 Free PMC article.

6

Genome architecture catalyzes nonrecurrent chromosomal rearrangements.

Stankiewicz P, Shaw CJ, Dapper JD, Wakui K, Shaffer LG, Withers M, Elizondo L, Park SS, Lupski JR. Stankiewicz P, et al. Among authors: lupski jr. Am J Hum Genet. 2003 May;72(5):1101-16. doi: 10.1086/374385. Epub 2003 Mar 20. Am J Hum Genet. 2003. PMID: 12649807 Free PMC article.

7

An ABCA4 genomic deletion in patients with Stargardt disease.

Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR. Yatsenko AN, et al. Among authors: lupski jr. Hum Mutat. 2003 Jun;21(6):636-44. doi: 10.1002/humu.10219. Hum Mutat. 2003. PMID: 12754711

8

The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3.

Stankiewicz P, Cheung SW, Shaw CJ, Saleki R, Szigeti K, Lupski JR. Stankiewicz P, et al. Among authors: lupski jr. Cytogenet Genome Res. 2003;101(2):118-23. doi: 10.1159/000074166. Cytogenet Genome Res. 2003. PMID: 14610351

9

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].

Potocki L, Shaw CJ, Stankiewicz P, Lupski JR. Potocki L, et al. Among authors: lupski jr. Genet Med. 2003 Nov-Dec;5(6):430-4. doi: 10.1097/01.gim.0000095625.14160.ab. Genet Med. 2003. PMID: 14614393

10

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

Bi W, Park SS, Shaw CJ, Withers MA, Patel PI, Lupski JR. Bi W, et al. Among authors: lupski jr. Am J Hum Genet. 2003 Dec;73(6):1302-15. doi: 10.1086/379979. Epub 2003 Nov 24. Am J Hum Genet. 2003. PMID: 14639526 Free PMC article.

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