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Page 1
Mosaic trisomy 17: variable clinical and cytogenetic presentation.
Daber R, Chapman KA, Ruchelli E, Kasperski S, Mulchandani S, Thiel BD, Hakonarson H, Zackai EH, Conlin LK, Spinner NB. Daber R, et al. Am J Med Genet A. 2011 Oct;155A(10):2489-95. doi: 10.1002/ajmg.a.34172. Am J Med Genet A. 2011. PMID: 21998853 Free PMC article.
Ring chromosome 20.
Daber RD, Conlin LK, Leonard LD, Canevini MP, Vignoli A, Hosain S, Brown LW, Spinner NB. Daber RD, et al. Eur J Med Genet. 2012 May;55(5):381-7. doi: 10.1016/j.ejmg.2012.02.004. Epub 2012 Feb 22. Eur J Med Genet. 2012. PMID: 22406087 Free article. Review.
Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7.
Salas-Labadía C, Cervantes-Barragán DE, Cruz-Alcívar R, Daber RD, Conlin LK, Leonard LD, Spinner NB, Durán-McKinster C, Dávila-Ortíz de Montellano DJ, Del Castillo-Ruiz V, Pérez-Vera P. Salas-Labadía C, et al. Among authors: daber rd. Am J Med Genet A. 2014 Jul;164A(7):1765-9. doi: 10.1002/ajmg.a.36503. Epub 2014 Mar 26. Am J Med Genet A. 2014. PMID: 24677512 Review.
Acquired isochromosome 12p, somatic TP53 and PTEN mutations, and a germline ATM variant in an adolescent male with concurrent acute megakaryoblastic leukemia and mediastinal germ cell tumor.
Oshrine BR, Olsen MN, Heneghan M, Wertheim G, Daber R, Wilmoth DM, Biegel JA, Pawel B, Aplenc R, King RL. Oshrine BR, et al. Among authors: daber r. Cancer Genet. 2014 Apr;207(4):153-9. doi: 10.1016/j.cancergen.2014.03.009. Epub 2014 Apr 5. Cancer Genet. 2014. PMID: 24831771
Validation of a next-generation sequencing oncology panel optimized for low input DNA.
Sussman RT, Shaffer S, Azzato EM, DeSloover D, Farooqi MS, Meyer A, Lieberman DB, Bigdeli A, Paolillo C, Ganapathy K, Sukhadia S, Rosenbaum JN, Daber RD, Morrissette JJD. Sussman RT, et al. Among authors: daber rd. Cancer Genet. 2018 Dec;228-229:55-63. doi: 10.1016/j.cancergen.2018.08.004. Epub 2018 Sep 19. Cancer Genet. 2018. PMID: 30553474
36 results