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Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.
Parsons DW, Roy A, Yang Y, Wang T, Scollon S, Bergstrom K, Kerstein RA, Gutierrez S, Petersen AK, Bavle A, Lin FY, López-Terrada DH, Monzon FA, Hicks MJ, Eldin KW, Quintanilla NM, Adesina AM, Mohila CA, Whitehead W, Jea A, Vasudevan SA, Nuchtern JG, Ramamurthy U, McGuire AL, Hilsenbeck SG, Reid JG, Muzny DM, Wheeler DA, Berg SL, Chintagumpala MM, Eng CM, Gibbs RA, Plon SE. Parsons DW, et al. JAMA Oncol. 2016 May 1;2(5):616-624. doi: 10.1001/jamaoncol.2015.5699. JAMA Oncol. 2016. PMID: 26822237 Free PMC article.
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.
del Castillo FJ, Rodríguez-Ballesteros M, Martín Y, Arellano B, Gallo-Terán J, Morales-Angulo C, Ramírez-Camacho R, Cruz Tapia M, Solanellas J, Martínez-Conde A, Villamar M, Moreno-Pelayo MA, Moreno F, del Castillo I. del Castillo FJ, et al. J Med Genet. 2003 Aug;40(8):632-6. doi: 10.1136/jmg.40.8.632. J Med Genet. 2003. PMID: 12920080 Free PMC article. No abstract available.