Prenatal Detection of Aneuploidy and Imbalanced Chromosomal Arrangements by Massively Parallel Sequencing

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

Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype

(2011) T. Y. Leung et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Genetics of Stillbirth

(2010) RONALD J. WAPNER   CLINICAL OBSTETRICS AND GYNECOLOGY

Changes in fetal prevalence and outcome for trisomies 13 and 18: a population-based study over 23 years

(2010) Claire Irving et al.   Journal of Maternal-Fetal & Neonatal Medicine

Cytogenetic Analysis After Evaluation of 750 Fetal Deaths

(2010) Fleurisca J. Korteweg et al.   OBSTETRICS AND GYNECOLOGY

SOAP2: an improved ultrafast tool for short read alignment

(2009) R. Li et al.   BIOINFORMATICS

Prenatal Screening for Aneuploidy

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

The diploid genome sequence of an Asian individual

(2008) Jun Wang et al.   NATURE

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

(2008) Derek Y Chiang et al.   NATURE METHODS