Lupski JR - Search Results

1

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.

Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, Damerla R, Dougherty GW, Abouhamed M, Olbrich H, Loges NT, Pennekamp P, Davis EE, Carvalho CM, Pehlivan D, Werner C, Raidt J, Köhler G, Häffner K, Reyes-Mugica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo CW, Katsanis N, Omran H. Hjeij R, et al. Among authors: lupski jr. Am J Hum Genet. 2013 Aug 8;93(2):357-67. doi: 10.1016/j.ajhg.2013.06.009. Epub 2013 Jul 11. Am J Hum Genet. 2013. PMID: 23849778 Free PMC article.

2

Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.

Katsanis N, Lewis RA, Stockton DW, Mai PM, Baird L, Beales PL, Leppert M, Lupski JR. Katsanis N, et al. Among authors: lupski jr. Am J Hum Genet. 1999 Dec;65(6):1672-9. doi: 10.1086/302684. Am J Hum Genet. 1999. PMID: 10577921 Free PMC article.

3

Identification of novel genes expressed during metanephric induction through single-cell library screening.

Abidari JM, Gonzales ET, Inoue K, Lupski JR, Karsenty G, Katsanis N. Abidari JM, et al. Among authors: lupski jr. Kidney Int. 2000 Jun;57(6):2221-8. doi: 10.1046/j.1523-1755.2000.00185.x. Kidney Int. 2000. PMID: 10844592 Free article.

4

Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13.

Katsanis N, Venable S, Smith JR, Lupski JR. Katsanis N, et al. Among authors: lupski jr. Hum Genet. 2000 Jan;106(1):66-72. doi: 10.1007/s004390051011. Hum Genet. 2000. PMID: 10982184

5

New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis.

Badano JL, Inoue K, Katsanis N, Lupski JR. Badano JL, et al. Among authors: lupski jr. Clin Chem. 2001 May;47(5):838-43. Clin Chem. 2001. PMID: 11325886

6

An evaluation of the draft human genome sequence.

Katsanis N, Worley KC, Lupski JR. Katsanis N, et al. Among authors: lupski jr. Nat Genet. 2001 Sep;29(1):88-91. doi: 10.1038/ng0901-88. Nat Genet. 2001. PMID: 11528399

7

Exploring the molecular basis of Bardet-Biedl syndrome.

Katsanis N, Lupski JR, Beales PL. Katsanis N, et al. Among authors: lupski jr. Hum Mol Genet. 2001 Oct 1;10(20):2293-9. doi: 10.1093/hmg/10.20.2293. Hum Mol Genet. 2001. PMID: 11673413 Review.

8

Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.

Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N. Eichers ER, et al. Among authors: lupski jr. Am J Hum Genet. 2002 Apr;70(4):955-64. doi: 10.1086/339688. Epub 2002 Feb 26. Am J Hum Genet. 2002. PMID: 11868161 Free PMC article.

9

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR. Katsanis N, et al. Among authors: lupski jr. Am J Hum Genet. 2002 Jul;71(1):22-9. doi: 10.1086/341031. Epub 2002 May 15. Am J Hum Genet. 2002. PMID: 12016587 Free PMC article.

10

A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes.

Katsanis N, Worley KC, Gonzalez G, Ansley SJ, Lupski JR. Katsanis N, et al. Among authors: lupski jr. Proc Natl Acad Sci U S A. 2002 Oct 29;99(22):14326-31. doi: 10.1073/pnas.222409099. Epub 2002 Oct 21. Proc Natl Acad Sci U S A. 2002. PMID: 12391299 Free PMC article.

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