Publications
วารสารทางวิชาการของ BGI ที่เกี่ยวข้องกับ Methodology
Chen F., et al. (2017). Isolation and whole genome sequencing of fetal cells from maternal blood towards the ultimate non-invasive prenatal t
Chen, E. Z., et al. (2011). Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing. PLoS ONE. 20
Chiu, R.W., et al. (2011). Non-invasive prenatal assessment of trisomy 21 by multiplexed maternalplasma DNA sequencing large scale validity s
Jiang H., et al. (2016) Noninvasive Prenatal Paternity Testing (NIPAT) through Maternal Plasma DNA Sequencing A Pilot Study. PLOS ONE 11(9) e
Jiang, F., et al. (2012). Non-invasive Fetal Trisomy (NIFTY) test an advanced non-invasive prenatal diagnosis methodology for fetal autosomal
Kang, X.,et al. (2016). An Advanced Model to Precisely Estimate the Cell-Free Fetal DNA Concentration in Maternal Plasma. PLoS One, 11(9), e0
Lau, T. K., et al. (2012). Non-invasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing. J Mate
Pan, X., et al. (2014). Non-invasive fetal sex determination by maternal plasma sequencing and application in X-linked disorder counseling. T
Yuan, Y., et al. (2013). Feasibility study of semiconductor sequencing for noninvasive prenatal detection of fetal aneuploidy. Clinical Chemi
Zhou, Y., et al. (2015). Effects of Maternal and Fetal Characteristics on Cell-Free Fetal DNA Fraction in Maternal Plasma. Reprod Sci, 22(11)
วารสารทางวิชาการของ BGI ที่เกี่ยวข้องกับ Clinical Validation & Application
Lau, T. K., et al. (2012). Clinical utility of noninvasive fetal trisomy (NIFTY) test – early experience. Journal of Maternal-Fetal a
Lau, T. K., et al. (2012). Non-invasive prenatal screening of fetal sex chromosomal abnormalities perspective of pregnant women. The
Lau, T. K., et al. (2012). Non-invasive prenatal screening of fetal sex chromosomal abnormalities perspective of pregnant women. The
Ma, J., et al. (2017). Validation of combinatorial probe-anchor ligation-based sequencing as non-invasive prenatal test for trisomy a
Manotaya, S., et al. (2016). Clinical experience from Thailand noninvasive prenatal testing as screening tests for trisomies 21, 18 a
Shan, D., et al. (2012). Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for tris
Zhang, H., et al. (2015). Non-invasive prenatal testing for trisomies 21, 18 and 13 clinical experience from 146,958 pregnancies. Ult
Zhou, Q., et al. (2014). Clinical application of noninvasive prenatal testing for the detection of trisomies 21, 18, and 13 a hospita
วารสารทางวิชาการของ BGI ที่เกี่ยวข้องกับ Clinical Case
Choi, H., et al. (2013). Fetal aneuploidy screening by maternal plasma DNA sequencing _false positive_ due to confined placental mosaicism.
Gao, Y., et al. (2013). A T18 false negative result by NIPT in a XXX, T18 case due to placental mosaicis. Ultrasound Obstetrics Gynecol. 20
Hong, Y., et al. (2012). Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X. Prenatal Diagnosis 2012(32),
Ji, X., et al. (2016). Incidental identification of maternal malignancies in two Asian women underwent noninvasive prenatal test. bioRxiv 0
Lau, T.K., et al. (2013). Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as
Pan, M., et al. (2013). Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a c
Pan, Q., et al. (2014). A prenatal case with discrepant findings between non-invasive prenatal testing and fetal genetic testings. Mol Cyto
Xiong, W., et al. (2015). Reproductive management through integration of PGD and MPS-based noninvasive prenatal screeningdiagnosis for a fa
วารสารทางวิชาการของ BGI ที่เกี่ยวข้องกับ ทารกแฝด
Huang, H., et al. (2014). Non-invasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregn
Lau, T. K., et al. (2013). Non-invasive prenatal screening of fetal Down syndrome by maternal plasma DNA sequencing in twin pregnancies. The Journal
Tan, Y., et al. (2016). Noninvasive prenatal testing (NIPT) in twin pregnancies with treatment of assisted reproductive techniques (ART) in a single
Zheng, J., et al. (2013). Effective Noninvasive Zygosity Determination by Maternal Plasma Target Region Sequencing. PLoS One 2013 Jun 10_8(6)e65050
วารสารทางวิชาการของ BGI ที่เกี่ยวข้องกับ Non-invasive chromosome deletion/repetition
Chen, S., et al. (2013). A method for noninvasive detection of fetal large deletions duplications by low coverage massively paralle
Liu, H., et al. (2016). Performance Evaluation of NIPT in Detection of Chromosomal Copy Number Variants Using Low-Coverage Whole-Gen
Zhang, C., et al. (2013). A single cell level based method for copy number variation analysis by low coverage massively parallel seq
วารสารทางวิชาการของ BGI ที่เกี่ยวข้องกับ Non-Invasive Single Gene & Whole Genome
Chen, M., et al. (2016). Targeted Sequencing of Maternal Plasma for HaplotypeBased Non-Invasive Prenatal Testing of Spinal Muscular Atrophy
Chen, S., et al. (2013). Haplotype-assisted accurate non-invasive fetal whole genome recovery through maternal plasma sequencing. Genetics
Ge, H., et al. (2013). Noninvasive Prenatal Detection for Pathogenic CNVs- The Application in α Thalassemia. PLoS ONE 8(6)e67464.
Liu, S., et al. (2015). Primer-Introduced Restriction Analysis Polymerase Chain Reaction Method for Non-Invasive Prenatal Testing of β-Thal
Ma, D., et al. (2014). Haplotype-Based Approach for Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia by Maternal Plasma DNA
Meng, M., et al. (2014). Noninvasive Prenatal Testing for Autosomal Recessive Disease by Maternal Plasma Sequencing in a Case of Congenital
Xu, Y., et al. (2015). Haplotype-Based Approach for Noninvasive Prenatal Tests of Duchenne Muscular Dystrophy Using Cell-Free Fetal DNA in
You, Y., et al. (2014). Integration of Targeted Sequencing and NIPT into Clinical Practice in a Chinese Family with Maple Syrup Urine Disea
วารสารทางวิชาการของ BGI ที่ตีพิมพ์ในรูปแบบภาษาจีน
