Lupski JR - Search Results

1

Analysis of the ABCA4 genomic locus in Stargardt disease.

Zernant J, Xie YA, Ayuso C, Riveiro-Alvarez R, Lopez-Martinez MA, Simonelli F, Testa F, Gorin MB, Strom SP, Bertelsen M, Rosenberg T, Boone PM, Yuan B, Ayyagari R, Nagy PL, Tsang SH, Gouras P, Collison FT, Lupski JR, Fishman GA, Allikmets R. Zernant J, et al. Among authors: lupski jr. Hum Mol Genet. 2014 Dec 20;23(25):6797-806. doi: 10.1093/hmg/ddu396. Epub 2014 Jul 31. Hum Mol Genet. 2014. PMID: 25082829 Free PMC article.

2

Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.

Patel PI, Franco B, Garcia C, Slaugenhaupt SA, Nakamura Y, Ledbetter DH, Chakravarti A, Lupski JR. Patel PI, et al. Among authors: lupski jr. Am J Hum Genet. 1990 Apr;46(4):801-9. Am J Hum Genet. 1990. PMID: 2316525 Free PMC article.

3

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PI, Lupski JR. Wise CA, et al. Among authors: lupski jr. Am J Hum Genet. 1993 Oct;53(4):853-63. Am J Hum Genet. 1993. PMID: 8105684 Free PMC article.

4

Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.

Roa BB, Garcia CA, Pentao L, Killian JM, Trask BJ, Suter U, Snipes GJ, Ortiz-Lopez R, Shooter EM, Patel PI, Lupski JR. Roa BB, et al. Among authors: lupski jr. Nat Genet. 1993 Oct;5(2):189-94. doi: 10.1038/ng1093-189. Nat Genet. 1993. PMID: 8252046

5

A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p.

Anderson KL, Baird L, Lewis RA, Chinault AC, Otterud B, Leppert M, Lupski JR. Anderson KL, et al. Among authors: lupski jr. Am J Hum Genet. 1995 Dec;57(6):1351-63. Am J Hum Genet. 1995. PMID: 8533764 Free PMC article.

6

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR. Allikmets R, et al. Among authors: lupski jr. Nat Genet. 1997 Mar;15(3):236-46. doi: 10.1038/ng0397-236. Nat Genet. 1997. PMID: 9054934

7

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

8

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.

Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, Leppert M. Allikmets R, et al. Among authors: lupski jr. Science. 1997 Sep 19;277(5333):1805-7. doi: 10.1126/science.277.5333.1805. Science. 1997. PMID: 9295268

9

Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.

Bejjani BA, Lewis RA, Tomey KF, Anderson KL, Dueker DK, Jabak M, Astle WF, Otterud B, Leppert M, Lupski JR. Bejjani BA, et al. Among authors: lupski jr. Am J Hum Genet. 1998 Feb;62(2):325-33. doi: 10.1086/301725. Am J Hum Genet. 1998. PMID: 9463332 Free PMC article.

10

Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients.

Reiter LT, Hastings PJ, Nelis E, De Jonghe P, Van Broeckhoven C, Lupski JR. Reiter LT, et al. Among authors: lupski jr. Am J Hum Genet. 1998 May;62(5):1023-33. doi: 10.1086/301827. Am J Hum Genet. 1998. PMID: 9545397 Free PMC article.

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