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A robust second-generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in maternal blood.
Guex N, Iseli C, Syngelaki A, Deluen C, Pescia G, Nicolaides KH, Xenarios I, Conrad B.
Prenat Diagn 2013;33:707-10. pdf -
Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y.
Nicolaides KH, Syngelaki A, Gil M, Atanasova V, Markova D.
Prenat Diagn 2013;33:575-9. -
Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics.
Ashoor G, Syngelaki A, Poon LC, Rezende JC, Nicolaides KH.
Ultrasound Obstet Gynecol 2013;41:26-32. -
Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method.
Ashoor G, Syngelaki A, Wang E, Struble C, Oliphant A, Song K, Nicolaides KH.
Ultrasound Obstet Gynecol 2013;41:21-5. -
Metabolomics and first-trimester prediction of early-onset preeclampsia.
Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K.
J Matern Fetal Neonatal Med 2012;25:1840-7. pdf -
Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population.
Nicolaides KH, Syngelaki A, Ashoor G, Birdir C, Touzet G.
Am J Obstet Gynecol 2012;207:374. -
Digital PCR for noninvasive detection of aneuploidy: power analysis equations for feasibility.
Evans MI, Wright DA, Pergament E, Cuckle HS, Nicolaides KH.
Fetal Diagn Ther 2012;31:244-7. -
Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: effect of maternal and fetal factors.
Ashoor G, Poon L, Syngelaki A, Mosimann B, Nicolaides KH.
Fetal Diagn Ther 2012;31:237-43. -
Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18.
Ashoor G, Syngelaki A, Wagner M, Birdir C, Nicolaides KH.
Am J Obstet Gynecol 2012;206:322. -
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. -
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.