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Intelligent Non-invasive Diagnosis of Aneuploidy: Raw Values and Highly Imbalanced Dataset.
Neocleous A, Nicolaides K, Schizas C.
IEEE J Biomed Health Inform 2017;21:1271-1279. pdf -
Analysis of Cell-Free DNA in Maternal Blood in Screening For Aneuploidies: Updated Meta-Analysis.
Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH.
Ultrasound Obstet Gynecol 2017;50:302-314. pdf -
Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities.
Syngelaki A, Guerra L, Ceccacci I, Efeturk T, Nicolaides KH.
Ultrasound Obstet Gynecol 2017;50:45-48. pdf -
Accuracy of first-trimester combined test in screening for trisomies 21, 18 and 13.
Santorum M, Wright D, Syngelaki A, Karagioti N, Nicolaides KH.
Ultrasound Obstet Gynecol 2017;49:714-720. pdf -
Performance of the neoBona test: a new paired-end massively parallel shotgun sequencing approach for cell-free DNA-based aneuploidy screening.
Cirigliano V, Ordonez E, Rueda L, Syngelaki A, Nicolaides KH.
Ultrasound Obstet Gynecol 2017;49:460-4. pdf -
Prospective first-trimester screening for trisomies by cell-free DNA testing of maternal blood in twin pregnancy.
Sarno L, Revello R, Hanson E, Akolekar R, Nicolaides KH.
Ultrasound Obstet Gynecol 2016;47:705-11. pdf -
Screening for trisomies by cell-free DNA testing of maternal blood: consequences of a failed result.
Revello R, Sarno L, Ispas A, Akolekar R, Nicolaides KH.
Ultrasound Obstet Gynecol 2016;47:698-704. pdf -
Clinical implementation of routine screening for fetal trisomies in the UK NHS: cell-free DNA test contingent on results from first-trimester combined test.
Gil MM, Revello R, Poon LC, Akolekar R, Nicolaides KH.
Ultrasound Obstet Gynecol 2016;47:45-52. pdf -
IONA test for first-trimester detection of trisomies 21, 18 and 13.
Poon LC, Dumidrascu-Diris D, Francisco C, Fantasia I, Nicolaides KH.
Ultrasound Obstet Gynecol 2016;47:184-7. pdf -
Identifying Robertsonian Translocation Carriers by Microarray-Based DNA Analysis.
Huang S, Juneau K, Bogard PE, Davies KA, Wang ET, Kingsley CB, Struble CA, Oliphant A, Zahn JM, Nicolaides KH.
Fetal Diagn Ther 2016;40:59-62. pdf -
Inverted Pyramid of Care.
Sonek JD, Kagan KO, Nicolaides KH.
Clin Lab Med 2016;36:305-17. pdf -
First Trimester Noninvasive Prenatal Diagnosis: A Computational Intelligence Approach.
Neocleous AC, Nicolaides KH, Schizas CN.
IEEE J Biomed Health Inform 2016;20:1427-38. pdf -
Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis.
Gil MM, Akolekar R, Quezada MS, Bregant B, Nicolaides KH.
Fetal Diagn Ther 2014;35:156-73. pdf -
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.
Syngelaki A, Pergament E, Homfray T, Akolekar R, Nicolaides KH.
Fetal Diagn Ther 2014;35:174-84. pdf -
Maternal Serum Placental Growth Factor (PlGF) Isoforms 1 and 2 at 11-13 Weeks' Gestation in Normal and Pathological Pregnancies.
Nucci M, Poon LC, Demirdjian G, Darbouret B, Nicolaides KH.
Fetal Diagn Ther 2014;36:106-16.. pdf -
Is high fetal nuchal translucency associated with submicroscopic chromosomal abnormalities on array CGH?
Huang J, Poon LC, Akolekar R, Choy KW, Leung TY, Nicolaides KH.
Ultrasound Obstet Gynecol 2014;43:620-4. . pdf -
Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing.
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.
Proc Natl Acad Sci U S A 2014;111:8583-8. pdf -
First-trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing.
Wright D, Syngelaki A, Bradbury I, Akolekar R, Nicolaides KH.
Fetal Diagn Ther 2014;35:118-26. pdf -
Cell-free DNA analysis for trisomy risk assessment in first-trimester twin pregnancies.
Gil MM, Quezada MS, Bregant B, Syngelaki A, Nicolaides KH.
Fetal Diagn Ther 2014;35:204-11. pdf -
Assessment of fetal sex chromosome aneuploidy using directed cell-free DNA analysis.
Nicolaides KH, Musci TJ, Struble CA, Syngelaki A, Gil MM.
Fetal Diagn Ther 2014;35:1-6. pdf