Lupski JR - Search Results

1

Molecular findings among patients referred for clinical whole-exome sequencing.

Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM. Yang Y, et al. Among authors: lupski jr. JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601. JAMA. 2014. PMID: 25326635 Free PMC article.

2

De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations.

Shapira SK, Anderson KL, Orr-Urtregar A, Craigen WJ, Lupski JR, Shaffer LG. Shapira SK, et al. Among authors: lupski jr. Am J Med Genet. 1994 Aug 1;52(1):44-50. doi: 10.1002/ajmg.1320520109. Am J Med Genet. 1994. PMID: 7977460

3

Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP.

Lupski JR, Chance PF, Garcia CA. Lupski JR, et al. JAMA. 1993 Nov 17;270(19):2326-30. doi: 10.1001/jama.270.19.2326. JAMA. 1993. PMID: 8230595 No abstract available.

4

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

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

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.

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

Development and validation of a CGH microarray for clinical cytogenetic diagnosis.

Cheung SW, Shaw CA, Yu W, Li J, Ou Z, Patel A, Yatsenko SA, Cooper ML, Furman P, Stankiewicz P, Lupski JR, Chinault AC, Beaudet AL. Cheung SW, et al. Among authors: lupski jr. Genet Med. 2005 Jul-Aug;7(6):422-32. doi: 10.1097/01.gim.0000170992.63691.32. Genet Med. 2005. PMID: 16024975 Free article.

10

Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization.

Lee JA, Cheung SW, Ward PA, Inoue K, Lupski JR. Lee JA, et al. Among authors: lupski jr. Prenat Diagn. 2005 Dec;25(13):1188-91. doi: 10.1002/pd.1308. Prenat Diagn. 2005. PMID: 16353282

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