Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma

Noninvasive Detection of Fetal Subchromosome Abnormalities via Deep Sequencing of Maternal Plasma

(2013) Anupama Srinivasan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

High-Throughput Massively Parallel Sequencing for Fetal Aneuploidy Detection from Maternal Plasma

(2013) Taylor J. Jensen et al.   PLoS One

Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing

(2013) Desheng Liang et al.   PRENATAL DIAGNOSIS

Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18

(2012) Mary E. Norton et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Detection of Microdeletion 22q11.2 in a Fetus by Next-Generation Sequencing of Maternal Plasma

(2012) T. J. Jensen et al.   CLINICAL CHEMISTRY

DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study

(2012) Glenn E. Palomaki et al.   GENETICS IN MEDICINE

Non-invasive prenatal measurement of the fetal genome

(2012) H. Christina Fan et al.   NATURE

Fast gapped-read alignment with Bowtie 2

(2012) Ben Langmead et al.   NATURE METHODS

Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

(2012) Diana W. Bianchi et al.   OBSTETRICS AND GYNECOLOGY

Committee Opinion No. 545

(2012)   OBSTETRICS AND GYNECOLOGY

Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X

(2012) Hong Yao et al.   PRENATAL DIAGNOSIS

DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations

(2012) Jacob A. Canick et al.   PRENATAL DIAGNOSIS

Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci

(2012) Bernhard Zimmermann et al.   PRENATAL DIAGNOSIS

Noninvasive Whole-Genome Sequencing of a Human Fetus

(2012) J. O. Kitzman et al.   Science Translational Medicine

Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting

(2011) Mathias Ehrich et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

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

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

Quantification of Fetal DNA by Use of Methylation-Based DNA Discrimination

(2010) A. O. H. Nygren et al.   CLINICAL CHEMISTRY

Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus

(2010) Y. M. D. Lo et al.   Science Translational Medicine

Maternal Plasma DNA Analysis with Massively Parallel Sequencing by Ligation for Noninvasive Prenatal Diagnosis of Trisomy 21

(2009) R. W.K. Chiu et al.   CLINICAL CHEMISTRY