Noninvasive Prenatal Diagnosis of Fetal Trisomy 21 by Allelic Ratio Analysis Using Targeted Massively Parallel Sequencing of Maternal Plasma DNA

DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study

(2011) Glenn E. Palomaki et al.   GENETICS IN MEDICINE

Targeted Massively Parallel Sequencing of Maternal Plasma DNA Permits Efficient and Unbiased Detection of Fetal Alleles

(2010) G. J. W. Liao et al.   CLINICAL CHEMISTRY

Target-enrichment strategies for next-generation sequencing

(2010) Lira Mamanova et al.   NATURE METHODS

Microdroplet-based PCR enrichment for large-scale targeted sequencing

(2009) Ryan Tewhey et al.   NATURE BIOTECHNOLOGY

Prenatal Screening for Aneuploidy

(2009) Deborah A. Driscoll et al.   NEW ENGLAND JOURNAL OF MEDICINE

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

(2008) R. W. K. Chiu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA