Lupski JR - Search Results

1

Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness.

Hanchard NA, Murdock DR, Magoulas PL, Bainbridge M, Muzny D, Wu Y, Wang M, Lupski JR, Gibbs RA, Brown CW. Hanchard NA, et al. Among authors: lupski jr. Clin Genet. 2013 May;83(5):457-461. doi: 10.1111/j.1399-0004.2012.01951.x. Epub 2012 Sep 11. Clin Genet. 2013. PMID: 22901280 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

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

4

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.

Wu YQ, Sutton VR, Nickerson E, Lupski JR, Potocki L, Korenberg JR, Greenberg F, Tassabehji M, Shaffer LG. Wu YQ, et al. Among authors: lupski jr. Am J Med Genet. 1998 Jun 16;78(1):82-9. doi: 10.1002/(sici)1096-8628(19980616)78:1<82::aid-ajmg17>3.0.co;2-k. Am J Med Genet. 1998. PMID: 9637430

5

Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.

Katsanis N, Shroyer NF, Lewis RA, Cavender JC, Al-Rajhi AA, Jabak M, Lupski JR. Katsanis N, et al. Among authors: lupski jr. Clin Genet. 2001 Jun;59(6):424-9. doi: 10.1034/j.1399-0004.2001.590607.x. Clin Genet. 2001. PMID: 11453974

6

Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype.

Stankiewicz P, Parka SS, Holder SE, Waters CS, Palmer RW, Berend SA, Shaffer LG, Potocki L, Lupski JR. Stankiewicz P, et al. Among authors: lupski jr. Clin Genet. 2001 Nov;60(5):336-44. doi: 10.1034/j.1399-0004.2001.600503.x. Clin Genet. 2001. PMID: 11903333

7

Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome.

Yatsenko SA, Yatsenko AN, Szigeti K, Craigen WJ, Stankiewicz P, Cheung SW, Lupski JR. Yatsenko SA, et al. Among authors: lupski jr. Clin Genet. 2004 Aug;66(2):128-36. doi: 10.1111/j.1399-0004.2004.00290.x. Clin Genet. 2004. PMID: 15253763

8

Low factor XII level in an individual with Sotos syndrome.

Shen JJ, Kurotaki N, Patel A, Lupski JR, Brown CW. Shen JJ, et al. Among authors: lupski jr. Pediatr Blood Cancer. 2005 Feb;44(2):187-9. doi: 10.1002/pbc.20177. Pediatr Blood Cancer. 2005. PMID: 15390361

9

Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency.

Kurotaki N, Shen JJ, Touyama M, Kondoh T, Visser R, Ozaki T, Nishimoto J, Shiihara T, Uetake K, Makita Y, Harada N, Raskin S, Brown CW, Höglund P, Okamoto N, Lupski JR. Kurotaki N, et al. Among authors: lupski jr. Genet Med. 2005 Sep;7(7):479-83. doi: 10.1097/01.gim.0000177419.43309.37. Genet Med. 2005. PMID: 16170239

10

Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.

Wiszniewski W, Lewis RA, Lupski JR. Wiszniewski W, et al. Among authors: lupski jr. Hum Genet. 2007 May;121(3-4):433-9. doi: 10.1007/s00439-006-0314-y. Epub 2007 Jan 31. Hum Genet. 2007. PMID: 17265047

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