Lupski JR - Search Results

1

Cytogenetically visible inversions are formed by multiple molecular mechanisms.

Pettersson M, Grochowski CM, Wincent J, Eisfeldt J, Breman AM, Cheung SW, Krepischi ACV, Rosenberg C, Lupski JR, Ottosson J, Lovmar L, Gacic J, Lundberg ES, Nilsson D, Carvalho CMB, Lindstrand A. Pettersson M, et al. Among authors: lupski jr. Hum Mutat. 2020 Nov;41(11):1979-1998. doi: 10.1002/humu.24106. Epub 2020 Oct 1. Hum Mutat. 2020. PMID: 32906200 Free PMC article.

2

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.

3

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

4

Molecular mechanisms for genomic disorders.

Inoue K, Lupski JR. Inoue K, et al. Among authors: lupski jr. Annu Rev Genomics Hum Genet. 2002;3:199-242. doi: 10.1146/annurev.genom.3.032802.120023. Epub 2002 Apr 15. Annu Rev Genomics Hum Genet. 2002. PMID: 12142364 Review.

5

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

6

The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3.

Stankiewicz P, Cheung SW, Shaw CJ, Saleki R, Szigeti K, Lupski JR. Stankiewicz P, et al. Among authors: lupski jr. Cytogenet Genome Res. 2003;101(2):118-23. doi: 10.1159/000074166. Cytogenet Genome Res. 2003. PMID: 14610351

7

Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates.

Shaw CJ, Withers MA, Lupski JR. Shaw CJ, et al. Among authors: lupski jr. Am J Hum Genet. 2004 Jul;75(1):75-81. doi: 10.1086/422016. Epub 2004 May 13. Am J Hum Genet. 2004. PMID: 15148657 Free PMC article.

8

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

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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