Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian DisordersYaping Yang, Christine M. Eng, Donna M. Muzny et al.|New England Journal of Medicine|2013Cited by 2k
Chromosomal Microarray versus Karyotyping for Prenatal DiagnosisRonald J. Wapner, Laird Jackson, Thomas Scholl et al.|New England Journal of Medicine|2012Cited by 1.4k
Molecular Findings Among Patients Referred for Clinical Whole-Exome SequencingYaping Yang, Christine M. Eng, Donna M. Muzny et al.|JAMA|2014Cited by 1.4k
Resolution of Disease Phenotypes Resulting from Multilocus Genomic VariationJennifer E. Posey, James R. Lupski, Tamar Harel et al.|New England Journal of Medicine|2016Cited by 774
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed malesDaniela del Gaudio, Benjamin B. Roa, Ping Fang et al.|Genetics in Medicine|2006Cited by 269