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Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratories

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Jiping Shi, Runling Zhang, Jinming Li & Rui Zhang. (2019) Novel perspectives in fetal biomarker implementation for the noninvasive prenatal testing. Critical Reviews in Clinical Laboratory Sciences 56:6, pages 374-392.
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Gioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, Enrica Marchionni, Alice Traversa & Antonio Pizzuti. (2022) Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis. Diagnostics 12:3, pages 575.
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Katia Margiotti, Anthony Cesta, Claudio Dello Russo, Antonella Cima, Maria Antonietta Barone, Antonella Viola, Davide Sparacino, Alvaro Mesoraca & Claudio Giorlandino. (2020) Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience. BMC Research Notes 13:1.
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Melina Claussnitzer, Judy H. Cho, Rory Collins, Nancy J. Cox, Emmanouil T. Dermitzakis, Matthew E. Hurles, Sekar Kathiresan, Eimear E. Kenny, Cecilia M. Lindgren, Daniel G. MacArthur, Kathryn N. North, Sharon E. Plon, Heidi L. Rehm, Neil Risch, Charles N. Rotimi, Jay Shendure, Nicole Soranzo & Mark I. McCarthy. (2020) A brief history of human disease genetics. Nature 577:7789, pages 179-189.
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Rui Zhang, Jiansheng Ding, Peng Gao, Ziyang Li, Ping Tan & Jinming Li. (2019) Generation of Highly Biomimetic Quality Control Materials for Noninvasive Prenatal Testing Based on Enzymatic Digestion of Matched Mother–Child Cell Lines. Clinical Chemistry 65:6, pages 761-770.
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Feng Suo, Chuangxia Wang, Tianya Liu, Yuan Fang, Qin Wu, Maosheng Gu & Lingshan Gou. (2018) Non-invasive prenatal testing in detecting sex chromosome aneuploidy: A large-scale study in Xuzhou area of China. Clinica Chimica Acta 481, pages 139-141.
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Daniel M. Borràs & Bart Janssen. 2018. Integration of Omics Approaches and Systems Biology for Clinical Applications. Integration of Omics Approaches and Systems Biology for Clinical Applications 49 66 .
Sara Filoche, Fiona Cram, Bev Lawton, Angela Beard & Peter Stone. (2017) Implementing non-invasive prenatal testing into publicly funded antenatal screening services for Down syndrome and other conditions in Aotearoa New Zealand. BMC Pregnancy and Childbirth 17:1.
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Sara K. Filoche, Beverley Lawton, Angela Beard & Peter Stone. (2017) Views of the obstetric profession on non-invasive prenatal testing in Aotearoa New Zealand: A national survey. Australian and New Zealand Journal of Obstetrics and Gynaecology 57:6, pages 617-623.
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Heidi L. Rehm. (2017) Evolving health care through personal genomics. Nature Reviews Genetics 18:4, pages 259-267.
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Rui Zhang, Hongyun Zhang, Yulong Li, Yanxi Han, Jiehong Xie & Jinming Li. (2016) External Quality Assessment for Detection of Fetal Trisomy 21, 18, and 13 by Massively Parallel Sequencing in Clinical Laboratories. The Journal of Molecular Diagnostics 18:2, pages 244-252.
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Kornelia Neveling, Djie Tjwan Thung, Lean Beulen, Wendy van Rens-Buijsman, Ingrid Gomes, Simone van den Heuvel, Hanneke Mieloo, Irma Derks-Prinsen, Ellen Kater-Baats & Brigitte H. W. Faas. (2016) Validation of two-channel sequencing-by-synthesis for noninvasive prenatal testing of fetal whole and partial chromosome aberrations. Prenatal Diagnosis 36:3, pages 216-223.
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