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First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing.
Nicolaides KH, Wright D, Poon LC, Syngelaki A, Gil MM.
Ultrasound Obstet Gynecol 2013;42:41-50. pdf -
Mass spectrometric discovery and selective reaction monitoring (SRM) of putative protein biomarker candidates in first trimester trisomy 21 maternal serum.
Lopez MF, Kuppusamy R, Sarracino DA, Prakash A, Athanas M, Krastins B, Rezai T, Sutton JN, Peterman S, Nicolaides K.
J Proteome Res 2011;10:133-42. -
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study.
Chiu RW, Akolekar R, Zheng YW, Leung TY, Sun H, Chan KC, Lun FM, Go AT, Lau ET, To WW, Leung WC, Tang RY, Au-Yeung SK, Lam H, Kung YY, Zhang X, van Vugt JM, Minekawa R, Tang MH, Wang J, Oudejans CB, Lau TK, Nicolaides KH, Lo YM.
BMJ 2011;342:c7401. -
Synergy of Total PLAC4 RNA concentration and measurement of the RNA single-nucleotide polymorphism allelic ratio for the noninvasive prenatal detection of Trisomy 21.
Tsui NB, Akolekar R, Chiu RW, Chow KC, Leung TY, Lau TK, Nicolaides KH, Lo YM.
Clin Chem 2010;56:73-81. -
Epigenetic-genetic chromosome dosage approach for fetal trisomy 21 detection using an autosomal genetic reference marker.
Tong YK, Chiu RW, Akolekar R, Leung TY, Lau TK, Nicolaides KH, Lo YM.
PLoS One 2010;5:e15244. -
Maternal plasma DNA analysis with massively parallel sequencing by ligation for noninvasive prenatal diagnosis of Trisomy 21.
Chiu RW, Sun H, Akolekar R, Clouser C, Lee C, McKernan K, Zhou D, Nicolaides KH, Lo YM.
Clin Chem 2010;56:459-63. -
Cell-free DNA levels in pregnancies at risk of sickle-cell disease and significant ethnic variation.
Gerovassili A, Nicolaides KH, Thein SL, Rees DC.
Br J Haematol 2006;135:738-41. -
Detection of trisomy 21 by quantitative mass spectrometric analysis of single-nucleotide polymorphisms.
Tsui NB, Chiu RW, Ding C, El-Sheikhah A, Leung TN, Lau TK, Nicolaides KH, Lo YM.
Clin Chem 2005;51:2358-62.