A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing

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

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

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

Invasive procedures for prenatal diagnosis: Any future left?

(2012) Joe Leigh Simpson   BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY

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

Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing

(2012) Tze Kin Lau et al.   Journal of Maternal-Fetal & Neonatal Medicine

From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges

(2012) Diana W Bianchi   NATURE MEDICINE

Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

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

Noninvasive Prenatal Diagnosis of a Fetal Microdeletion Syndrome

(2011) David Peters et al.   NEW ENGLAND JOURNAL OF MEDICINE

Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries

(2011) Daniel Aird et al.   GENOME BIOLOGY

Sensitivity of Noninvasive Prenatal Detection of Fetal Aneuploidy from Maternal Plasma Using Shotgun Sequencing Is Limited Only by Counting Statistics

(2010) H. Christina Fan et al.   PLoS One

SOAP2: an improved ultrafast tool for short read alignment

(2009) R. Li et al.   BIOINFORMATICS

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

‘Puppet’ children. A report on three cases (1965)

(2009) Hilary Hart   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

High-resolution mapping of copy-number alterations with massively parallel sequencing

(2008) Derek Y Chiang et al.   NATURE METHODS

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