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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. -
Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing.
Chen EZ, Chiu RW, Sun H, Akolekar R, Chan KC, Leung TY, Jiang P, Zheng YW, Lun FM, Chan LY, Jin Y, 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.
PLoS One 2011;6:21791. -
Fetal RHD genotype detection from circulating cell-free fetal DNA in maternal plasma in non-sensitized RhD negative women.
Bombard AT, Akolekar R, Farkas DH, Vanagtmael AL, Aquino F, Oeth P, Nicolaides KH.
Prenat Diagn 2011;31:802-8. -
Fetal RHD Genotyping in Maternal Plasma at 11-13 Weeks of Gestation.
Akolekar R, Finning K, Kuppusamy R, Daniels G, Nicolaides KH.
Fetal Diagn Ther 2011;29:301-6. -
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. -
Systematic identification of placental epigenetic signatures for the noninvasive prenatal detection of Edwards syndrome.
Tsui DW, Lam YM, Lee WS, Leung TY, Lau TK, Lau ET, Tang MH, Akolekar R, Nicolaides KH, Chiu RW, Lo YM, Chim SS.
PLoS One 2010;5:e15069. -
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. -
First-trimester maternal plasma cell-free fetal DNA and preeclampsia.
Sifakis S, Zaravinos A, Maiz N, Spandidos DA, Nicolaides KH.
Am J Obstet Gynecol 2009;201:472.1-7. -
Cell-free fetal DNA in celomic fluid.
Makrydimas G, Gerovassili A, Sotiriadis A, Kavvadias A, Nicolaides KH.
Ultrasound Obstet Gynecol 2008;32:594-5. -
Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection.
Lo YM, Tsui NB, Chiu RW, Lau TK, Leung TN, Heung MM, Gerovassili A, Jin Y, Nicolaides KH, Cantor CR, Ding C.
Nat Med 2007;13:218-23. -
Free fetal DNA in maternal circulation: a potential prognostic marker for chromosomal abnormalities?
Gerovassili A, Garner C, Nicolaides KH, Thein SL, Rees DC.
Prenat Diagn 2007;27:104-10. -
Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: theoretical and empirical considerations.
Tong YK, Ding C, Chiu RW, Gerovassili A, Chim SS, Leung TY, Leung TN, Lau TK, Nicolaides KH, Lo YM.
Clin Chem 2006;52:2194-202. -
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. -
Comparison of protocols for extracting circulating DNA and RNA from maternal plasma.
Chiu RW, Lui WB, El-Sheikhah A, Chan AT, Lau TK, Nicolaides KH, Lo YM.
Clin Chem 2005;51:2209-10. -
Evaluation of human chorionic gonadotropin beta-subunit mRNA concentrations in maternal serum in aneuploid pregnancies: A feasibility study.
Ng EK, El-Sheikhah A, Chiu RW, Chan KC, Hogg M, Bindra R, Leung TN, Lau TK, Nicolaides KH, Lo YM.
Clin Chem 2004;50:1055-7.