- Cirigliano V, Ordonez E, Rueda L, Syngelaki A, Nicolaides KH. Performance of the neoBona test: a new paired-end massively parallel shotgun sequencing approach for cell-free DNA-based aneuploidy screening. Ultrasound Obstet Gynecol 2017;49:460-4 pdf
- Neocleous A, Nicolaides K, Schizas C. Intelligent Non-invasive Diagnosis of Aneuploidy: Raw Values and Highly Imbalanced Dataset. IEEE J Biomed Health Inform DOI: 10.1109/JBHI.2016.2608859 pdf
- Syngelaki A, Guerra L, Ceccacci I, Efeturk T, Nicolaides KH. Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities. Ultrasound Obstet Gynecol DOI: 10.1002/uog.17286 pdf
- Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH. Analysis of Cell-Free DNA in Maternal Blood in Screening For Aneuploidies: Updated Meta-Analysis. Ultrasound Obstet Gynecol DOI: 10.1002/uog.17484 pdf
- Santorum M, Wright D, Syngelaki A, Karagioti N, Nicolaides KH. Accuracy of first-trimester combined test in screening for trisomies 21, 18 and 13. Ultrasound Obstet Gynecol DOI: 10.1002/uog.17283 pdf
- Revello R, Sarno L, Ispas A, Akolekar R, Nicolaides KH. Screening for trisomies by cell-free DNA testing of maternal blood: consequences of a failed result. Ultrasound Obstet Gynecol 2016;47:698-704 pdf
- Sarno L, Revello R, Hanson E, Akolekar R, Nicolaides KH. Prospective first-trimester screening for trisomies by cell-free DNA testing of maternal blood in twin pregnancy. Ultrasound Obstet Gynecol 2016;47:705-11 pdf
- Poon LC, Dumidrascu-Diris D, Francisco C, Fantasia I, Nicolaides KH. IONA test for first-trimester detection of trisomies 21, 18 and 13. Ultrasound Obstet Gynecol 2016;47:184-7 pdf
- Sonek JD, Kagan KO, Nicolaides KH. Inverted Pyramid of Care. Clin Lab Med 2016;36:305-17 pdf
- Huang S, Juneau K, Bogard PE, Davies KA, Wang ET, Kingsley CB, Struble CA, Oliphant A, Zahn JM, Nicolaides KH. Identifying Robertsonian Translocation Carriers by Microarray-Based DNA Analysis. Fetal Diagn Ther 2016;40:59-62 pdf
- Neocleous AC, Nicolaides KH, Schizas CN. First Trimester Noninvasive Prenatal Diagnosis: A Computational Intelligence Approach. IEEE J Biomed Health Inform 2016;20:1427-38 pdf
- Gil MM, Revello R, Poon LC, Akolekar R, Nicolaides KH. Clinical implementation of routine screening for fetal trisomies in the UK NHS: cell-free DNA test contingent on results from first-trimester combined test. Ultrasound Obstet Gynecol 2016;47:45-52 pdf
- Quezada MS, Gil MM, Francisco C, Orosz G, Nicolaides KH. Screening for trisomies 21, 18 and 13 by cell-free DNA analysis of maternal blood at 10-11 weeks' gestation and the combined test at 11-13 weeks. Ultrasound Obstet Gynecol 2015;45:36-41 pdf
- Kagan KO, Wright D, Nicolaides KH. First-trimester contingent screening for trisomies 21, 18 and 13 by fetal nuchal translucency and ductus venosus flow and maternal blood cell-free DNA testing. Ultrasound Obstet Gynecol 2015;45:42-7 pdf
- Gil MM, Quezada MS, Revello R, Akolekar R, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2015;45:249-66 pdf
- Wright D, Wright A, Nicolaides KH. A unified approach to risk assessment for fetal aneuploidies. Ultrasound Obstet Gynecol 2015;45:48-54 pdf
- Stokowski R, Wang E, White K, Batey A, Jacobsson B, Brar H, Balanarasimha M, Hollemon D, Sparks A, Nicolaides K, Musci TJ. Clinical performance of non-invasive prenatal testing (NIPT) using targeted cell-free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies. Prenat Diagn 2015;35:1243-6 pdf
- Yu SC, Chan KC, Zheng YW, Jiang P, Liao GJ, Sun H, Akolekar R, Leung TY, Go AT, van Vugt JM, Minekawa R, Oudejans CB, Nicolaides KH, Chiu RW, Lo YM. Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing. Proc Natl Acad Sci U S A 2014;111:8583-8 pdf
- Syngelaki A, Pergament E, Homfray T, Akolekar R, Nicolaides KH. Replacing the combined test by cell-free DNA testing in screening for trisomies 21, 18 and 13: impact on the diagnosis of other chromosomal abnormalities. Fetal Diagn Ther 2014;35:174-84 pdf
- Nucci M, Poon LC, Demirdjian G, Darbouret B, Nicolaides KH. Maternal Serum Placental Growth Factor (PlGF) Isoforms 1 and 2 at 11-13 Weeks' Gestation in Normal and Pathological Pregnancies. Fetal Diagn Ther 2014;36:106-16. pdf