A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing. Prenat Diagn.2013 Jun;33(6):584-90.

A Single Cell Level Based Method for Copy Number Variation Analysis by Low Coverage Massively Parallel Sequencing. PLoS One.2013;8(1):e54236.

Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors. Prenat Diagn.2012 Dec;32(13):1225-32.

Clinical application of noninvasive prenatal testing for the detection of trisomies 21, 18, and 13: a hospital experience. Prenatal diagnosis 2014;34(11):1061-5 doi: 10.1002/pd.4428.

Clinical utility of noninvasive fetal trisomy (NIFTY) test – early experience. J Matern Fetal Neonatal Med.2012 Oct;25(10):1856-9.

Fetal aneuploidy screening by maternal plasma DNA sequencing: 'false positive' due to confined placental mosaicism. Prenat Diagn.2013 Feb;33(2):198-200.

Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ.2011 Jan 11;342:c7401.

Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing. J Matern Fetal Neonatal Med.2012 Aug;25(8):1370-4.

Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing. PLoS One.2011;6(7):e21791.

Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X. Prenat Diagn. 2012 Nov;32(11):1114-6.

Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and ex chromosomal aneuploidies.BMC Med Genomics. 2012 Dec 1;5:57.

Non-invasive fetal sex determination by maternal plasma sequencing and application in X-linked disorder counseling. The journal of maternal-fetal & neonatal medicine 2014;27(18):1829-33 doi: 10.3109/14767058.2014.885942

Non-invasive prenatal screening of fetal Down syndrome by maternal plasma DNA sequencing in twin pregnancies. J Matern Fetal Neonatal Med.2013 Mar;26(4):434-7.

Prenatal Detection of Aneuploidy and Imbalanced Chromosomal Arrangements by Massively Parallel Sequencing. PLoS One.2012;7(2):e27835

Noninvasive Prenatal Testing for Trisomy 21, 18 and 13 - Clinical Experience from 146,958 Pregnancies. Prenat Diagn.Accepted