Shaw C - Search Results

1

Detection of clinically relevant copy number variants with whole-exome sequencing.

de Ligt J, Boone PM, Pfundt R, Vissers LE, Richmond T, Geoghegan J, O'Moore K, de Leeuw N, Shaw C, Brunner HG, Lupski JR, Veltman JA, Hehir-Kwa JY. de Ligt J, et al. Among authors: shaw c. Hum Mutat. 2013 Oct;34(10):1439-48. doi: 10.1002/humu.22387. Epub 2013 Aug 30. Hum Mutat. 2013. PMID: 23893877

2

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing.

de Ligt J, Boone PM, Pfundt R, Vissers LE, de Leeuw N, Shaw C, Brunner HG, Lupski JR, Veltman JA, Hehir-Kwa JY. de Ligt J, et al. Among authors: shaw c. Genom Data. 2014 Dec;2:144-146. doi: 10.1016/j.gdata.2014.06.009. Genom Data. 2014. PMID: 26258046 Free PMC article.

3

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

Shaw CJ, Bi W, Lupski JR. Shaw CJ, et al. 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.

4

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease.

Shaw CJ, Lupski JR. Shaw CJ, et al. Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R57-64. doi: 10.1093/hmg/ddh073. Epub 2004 Feb 5. Hum Mol Genet. 2004. PMID: 14764619 Review.

5

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. 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.

6

Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms.

Shaw CJ, Lupski JR. Shaw CJ, et al. Hum Genet. 2005 Jan;116(1-2):1-7. doi: 10.1007/s00439-004-1204-9. Epub 2004 Oct 22. Hum Genet. 2005. PMID: 15526218

7

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, Park SS, Karbassi ID, Batish SD, Ordóñez-Ugalde A, Quintáns B, Sobrido MJ, Stemmler S, Lupski JR. Boone PM, et al. Among authors: shaw cj. Am J Hum Genet. 2014 Aug 7;95(2):143-61. doi: 10.1016/j.ajhg.2014.06.014. Epub 2014 Jul 24. Am J Hum Genet. 2014. PMID: 25065914 Free PMC article.

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. 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

Genome architecture catalyzes nonrecurrent chromosomal rearrangements.

Stankiewicz P, Shaw CJ, Dapper JD, Wakui K, Shaffer LG, Withers M, Elizondo L, Park SS, Lupski JR. Stankiewicz P, et al. Am J Hum Genet. 2003 May;72(5):1101-16. doi: 10.1086/374385. Epub 2003 Mar 20. Am J Hum Genet. 2003. PMID: 12649807 Free PMC article.

10

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.

Bi W, Saifi GM, Shaw CJ, Walz K, Fonseca P, Wilson M, Potocki L, Lupski JR. Bi W, et al. Hum Genet. 2004 Nov;115(6):515-24. doi: 10.1007/s00439-004-1187-6. Epub 2004 Sep 30. Hum Genet. 2004. PMID: 15565467

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