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28 results
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Page 1
Olfactory copy number association with age at onset of Alzheimer disease.
Shaw CA, Li Y, Wiszniewska J, Chasse S, Zaidi SN, Jin W, Dawson B, Wilhelmsen K, Lupski JR, Belmont JW, Doody RS, Szigeti K. Shaw CA, et al. Among authors: wiszniewska j. Neurology. 2011 Apr 12;76(15):1302-9. doi: 10.1212/WNL.0b013e3182166df5. Neurology. 2011. PMID: 21482944 Free PMC article.
Detection of clinically relevant exonic copy-number changes by array CGH.
Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P. Boone PM, et al. Among authors: wiszniewska j. Hum Mutat. 2010 Dec;31(12):1326-42. doi: 10.1002/humu.21360. Epub 2010 Nov 2. Hum Mutat. 2010. PMID: 20848651 Free PMC article.
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
Wiszniewska J, Bi W, Shaw C, Stankiewicz P, Kang SH, Pursley AN, Lalani S, Hixson P, Gambin T, Tsai CH, Bock HG, Descartes M, Probst FJ, Scaglia F, Beaudet AL, Lupski JR, Eng C, Cheung SW, Bacino C, Patel A. Wiszniewska J, et al. Eur J Hum Genet. 2014 Jan;22(1):79-87. doi: 10.1038/ejhg.2013.77. Epub 2013 May 22. Eur J Hum Genet. 2014. PMID: 23695279 Free PMC article.
Copy number and SNP arrays in clinical diagnostics.
Schaaf CP, Wiszniewska J, Beaudet AL. Schaaf CP, et al. Among authors: wiszniewska j. Annu Rev Genomics Hum Genet. 2011;12:25-51. doi: 10.1146/annurev-genom-092010-110715. Annu Rev Genomics Hum Genet. 2011. PMID: 21801020 Review.
28 results