Lupski JR - Search Results

1

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L; DDD Study; Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P. Yuan B, et al. Among authors: lupski jr. Genet Med. 2019 Mar;21(3):663-675. doi: 10.1038/s41436-018-0085-6. Epub 2018 Aug 30. Genet Med. 2019. PMID: 30158690 Free PMC article.

2

Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.

Takashima H, Boerkoel CF, Lupski JR. Takashima H, et al. Among authors: lupski jr. Genet Med. 2001 Sep-Oct;3(5):335-42. doi: 10.1097/00125817-200109000-00002. Genet Med. 2001. PMID: 11545686 Free article.

3

Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.

Park SS, Stankiewicz P, Bi W, Shaw C, Lehoczky J, Dewar K, Birren B, Lupski JR. Park SS, et al. Among authors: lupski jr. Genome Res. 2002 May;12(5):729-38. doi: 10.1101/gr.82802. Genome Res. 2002. PMID: 11997339 Free PMC article.

4

Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

Shaw CJ, Bi W, Lupski JR. Shaw CJ, et al. Among authors: lupski jr. Am J Hum Genet. 2002 Nov;71(5):1072-81. doi: 10.1086/344346. Epub 2002 Oct 9. Am J Hum Genet. 2002. PMID: 12375235 Free PMC article.

5

Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.

Walz K, Caratini-Rivera S, Bi W, Fonseca P, Mansouri DL, Lynch J, Vogel H, Noebels JL, Bradley A, Lupski JR. Walz K, et al. Among authors: lupski jr. Mol Cell Biol. 2003 May;23(10):3646-55. doi: 10.1128/MCB.23.10.3646-3655.2003. Mol Cell Biol. 2003. PMID: 12724422 Free PMC article.

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

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].

Potocki L, Shaw CJ, Stankiewicz P, Lupski JR. Potocki L, et al. Among authors: lupski jr. Genet Med. 2003 Nov-Dec;5(6):430-4. doi: 10.1097/01.gim.0000095625.14160.ab. Genet Med. 2003. PMID: 14614393

8

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

Bi W, Park SS, Shaw CJ, Withers MA, Patel PI, Lupski JR. Bi W, et al. Among authors: lupski jr. Am J Hum Genet. 2003 Dec;73(6):1302-15. doi: 10.1086/379979. Epub 2003 Nov 24. Am J Hum Genet. 2003. PMID: 14639526 Free PMC article.

9

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.

10

Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.

Shaw CJ, Stankiewicz P, Bien-Willner G, Bello SC, Shaw CA, Carrera M, Perez Jurado L, Estivill X, Lupski JR. Shaw CJ, et al. Among authors: lupski jr. Hum Genet. 2004 Jun;115(1):1-7. doi: 10.1007/s00439-004-1119-5. Epub 2004 Apr 20. Hum Genet. 2004. PMID: 15098121

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