Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNAJinglan Zhang, Christine M. Eng, Jianli Li et al.|Nature Medicine|2019Cited by 264
Validation of a Next-Generation Sequencing Assay for Clinical Molecular OncologyCatherine E. Cottrell, John D. Pfeifer, Jennifer L. Stratman et al.|Journal of Molecular Diagnostics|2013Cited by 184
Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy ProjectAnne W. Higgins, Cynthia C. Morton, Fowzan S. Alkuraya et al.|The American Journal of Human Genetics|2008Cited by 150
Detection of FLT3 Internal Tandem Duplication in Targeted, Short-Read-Length, Next-Generation Sequencing DataDavid H. Spencer, Eric J. Duncavage, Haley Abel et al.|Journal of Molecular Diagnostics|2012Cited by 141
Genomic heterogeneity of ALK fusion breakpoints in non-small-cell lung cancerJason N. Rosenbaum, Eric J. Duncavage, Ryan J. Bloom et al.|Modern Pathology|2018Cited by 96