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Page 1
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.
Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, Shuman C, Sondheimer N, Weksberg R, Yoon G, Meyn MS, Stavropoulos DJ, Scherer SW, Mendoza-Londono R, Marshall CR. Costain G, et al. Among authors: shuman c. Eur J Hum Genet. 2018 May;26(5):740-744. doi: 10.1038/s41431-018-0114-6. Epub 2018 Feb 16. Eur J Hum Genet. 2018. PMID: 29453418 Free PMC article.
FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes.
Teshima I, Chadwick D, Chitayat D, Kobayashi J, Ray P, Shuman C, Siegel-Bartelt J, Strasberg P, Weksberg R. Teshima I, et al. Among authors: shuman c. Am J Med Genet. 1996 Mar 29;62(3):217-23. doi: 10.1002/(sici)1096-8628(19960329)62:3<216::aid-ajmg3>3.3.co;2-0. Am J Med Genet. 1996. PMID: 8882776
Analphoid 3qter markers.
Teshima I, Bawle EV, Weksberg R, Shuman C, Van Dyke DL, Schwartz S. Teshima I, et al. Among authors: shuman c. Am J Med Genet. 2000 Sep 11;94(2):113-9. doi: 10.1002/1096-8628(20000911)94:2<113::aid-ajmg3>3.0.co;2-q. Am J Med Genet. 2000. PMID: 10982967
Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.
Weksberg R, Nishikawa J, Caluseriu O, Fei YL, Shuman C, Wei C, Steele L, Cameron J, Smith A, Ambus I, Li M, Ray PN, Sadowski P, Squire J. Weksberg R, et al. Among authors: shuman c. Hum Mol Genet. 2001 Dec 15;10(26):2989-3000. doi: 10.1093/hmg/10.26.2989. Hum Mol Genet. 2001. PMID: 11751681
Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.
Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, Scherer SW. Nakabayashi K, et al. Among authors: shuman c. Genomics. 2002 Feb;79(2):186-96. doi: 10.1006/geno.2002.6695. Genomics. 2002. PMID: 11829489
252 results