Lupski JR - Search Results

1

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses.

Campbell IM, Gambin T, Jhangiani S, Grove ML, Veeraraghavan N, Muzny DM, Shaw CA, Gibbs RA, Boerwinkle E, Yu F, Lupski JR. Campbell IM, et al. Among authors: lupski jr. Hum Mutat. 2016 Mar;37(3):231-234. doi: 10.1002/humu.22944. Epub 2015 Dec 31. Hum Mutat. 2016. PMID: 26670213 Free PMC article.

2

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR. Reiter LT, et al. Among authors: lupski jr. Nat Genet. 1996 Mar;12(3):288-97. doi: 10.1038/ng0396-288. Nat Genet. 1996. PMID: 8589720

3

Absence of PMP22 coding region mutations in CMT1A duplication patients: further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A.

Warner LE, Roa BB, Lupski JR. Warner LE, et al. Among authors: lupski jr. Hum Mutat. 1996;8(4):362-5. doi: 10.1002/(SICI)1098-1004(1996)8:4<362::AID-HUMU10>3.0.CO;2-0. Hum Mutat. 1996. PMID: 8956042 No abstract available.

4

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

5

The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.

Reiter LT, Murakami T, Koeuth T, Gibbs RA, Lupski JR. Reiter LT, et al. Among authors: lupski jr. Hum Mol Genet. 1997 Sep;6(9):1595-603. doi: 10.1093/hmg/6.9.1595. Hum Mol Genet. 1997. PMID: 9285799

6

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.

Beales PL, Katsanis N, Lewis RA, Ansley SJ, Elcioglu N, Raza J, Woods MO, Green JS, Parfrey PS, Davidson WS, Lupski JR. Beales PL, et al. Among authors: lupski jr. Am J Hum Genet. 2001 Mar;68(3):606-16. doi: 10.1086/318794. Epub 2001 Feb 1. Am J Hum Genet. 2001. PMID: 11179009 Free PMC article.

7

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.

8

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

9

Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.

Shaw CJ, Shaw CA, Yu W, Stankiewicz P, White LD, Beaudet AL, Lupski JR. Shaw CJ, et al. Among authors: lupski jr. J Med Genet. 2004 Feb;41(2):113-9. doi: 10.1136/jmg.2003.012831. J Med Genet. 2004. PMID: 14757858 Free PMC article.

10

Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.

Shaw CJ, Stankiewicz P, Bien-Willner G, Bello SC, Shaw CA, Carrera M, Perez Jurado L, Estivill X, Lupski JR. Shaw CJ, et al. Among authors: lupski jr. Hum Genet. 2004 Jun;115(1):1-7. doi: 10.1007/s00439-004-1119-5. Epub 2004 Apr 20. Hum Genet. 2004. PMID: 15098121

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