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Items: 1 to 20 of 103

1.

Maternal plasma sequencing: a powerful tool towards fetal whole genome recovery.

Papageorgiou EA, Patsalis PC.

BMC Med. 2013 Feb 27;11:56. doi: 10.1186/1741-7015-11-56.

2.

Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center.

Lau TK, Cheung SW, Lo PS, Pursley AN, Chan MK, Jiang F, Zhang H, Wang W, Jong LF, Yuen OK, Chan HY, Chan WS, Choy KW.

Ultrasound Obstet Gynecol. 2014 Mar;43(3):254-64. doi: 10.1002/uog.13277. Epub 2014 Feb 10. Review.

3.

Non-invasive prenatal diagnostics of aneuploidy using next-generation DNA sequencing technologies, and clinical considerations.

Nepomnyashchaya YN, Artemov AV, Roumiantsev SA, Roumyantsev AG, Zhavoronkov A.

Clin Chem Lab Med. 2013 Jun;51(6):1141-54. Review.

PMID:
23023923
4.

Noninvasive whole-genome sequencing of a human fetus.

Kitzman JO, Snyder MW, Ventura M, Lewis AP, Qiu R, Simmons LE, Gammill HS, Rubens CE, Santillan DA, Murray JC, Tabor HK, Bamshad MJ, Eichler EE, Shendure J.

Sci Transl Med. 2012 Jun 6;4(137):137ra76. doi: 10.1126/scitranslmed.3004323.

5.

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma.

Chiu RW, Chan KC, Gao Y, Lau VY, Zheng W, Leung TY, Foo CH, Xie B, Tsui NB, Lun FM, Zee BC, Lau TK, Cantor CR, Lo YM.

Proc Natl Acad Sci U S A. 2008 Dec 23;105(51):20458-63. doi: 10.1073/pnas.0810641105. Epub 2008 Dec 10.

6.

Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencing.

Ma D, Ge H, Li X, Jiang T, Chen F, Zhang Y, Hu P, Chen S, Zhang J, Ji X, Xu X, Jiang H, Chen M, Wang W, Xu Z.

Gene. 2014 Jul 10;544(2):252-8. doi: 10.1016/j.gene.2014.04.055. Epub 2014 Apr 24.

PMID:
24768736
7.

Noninvasive prenatal detection of chromosomal aneuploidies using different next generation sequencing strategies and algorithms.

Stumm M, Entezami M, Trunk N, Beck M, Löcherbach J, Wegner RD, Hagen A, Becker R, Hofmann W.

Prenat Diagn. 2012 Jun;32(6):569-77. doi: 10.1002/pd.3862. Epub 2012 May 9.

PMID:
22573401
8.

Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies.

Boon EM, Faas BH.

Prenat Diagn. 2013 Jun;33(6):563-8. doi: 10.1002/pd.4111. Review.

PMID:
23613171
9.

Prenatal Diagnosis Innovation: Genome Sequencing of Maternal Plasma.

Wong FC, Lo YM.

Annu Rev Med. 2016;67:419-32. doi: 10.1146/annurev-med-091014-115715. Epub 2015 Oct 15. Review.

PMID:
26473414
10.

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis.

Lo YM, Chiu RW.

Clin Chem. 2008 Mar;54(3):461-6. doi: 10.1373/clinchem.2007.100016. Epub 2008 Jan 17. Review.

11.

Genomic analysis of fetal nucleic acids in maternal blood.

Lo YM, Chiu RW.

Annu Rev Genomics Hum Genet. 2012;13:285-306. doi: 10.1146/annurev-genom-090711-163806. Epub 2012 May 29. Review.

PMID:
22657389
12.

Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.

Zeevi DA, Altarescu G, Weinberg-Shukron A, Zahdeh F, Dinur T, Chicco G, Herskovitz Y, Renbaum P, Elstein D, Levy-Lahad E, Rolfs A, Zimran A.

J Clin Invest. 2015 Oct 1;125(10):3757-65. doi: 10.1172/JCI79322. Epub 2015 Aug 31.

13.

Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma.

Mazloom AR, Džakula Ž, Oeth P, Wang H, Jensen T, Tynan J, McCullough R, Saldivar JS, Ehrich M, van den Boom D, Bombard AT, Maeder M, McLennan G, Meschino W, Palomaki GE, Canick JA, Deciu C.

Prenat Diagn. 2013 Jun;33(6):591-7. doi: 10.1002/pd.4127.

PMID:
23592550
14.

Haplotype-assisted accurate non-invasive fetal whole genome recovery through maternal plasma sequencing.

Chen S, Ge H, Wang X, Pan X, Yao X, Li X, Zhang C, Chen F, Jiang F, Li P, Jiang H, Zheng H, Zhang L, Zhao L, Wang W, Li S, Wang J, Wang J, Yang H, Li Y, Zhang X.

Genome Med. 2013 Feb 27;5(2):18. doi: 10.1186/gm422. eCollection 2013.

15.

Recent advances in the analysis of fetal nucleic acids in maternal plasma.

Tsui NB, Lo YM.

Curr Opin Hematol. 2012 Nov;19(6):462-8. doi: 10.1097/MOH.0b013e328358e17a. Review.

PMID:
22954725
16.

Non-invasive prenatal diagnosis by single molecule counting technologies.

Chiu RW, Cantor CR, Lo YM.

Trends Genet. 2009 Jul;25(7):324-31. doi: 10.1016/j.tig.2009.05.004. Epub 2009 Jun 18. Review.

PMID:
19540612
17.

Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma.

Zhao C, Tynan J, Ehrich M, Hannum G, McCullough R, Saldivar JS, Oeth P, van den Boom D, Deciu C.

Clin Chem. 2015 Apr;61(4):608-16. doi: 10.1373/clinchem.2014.233312. Epub 2015 Feb 20.

18.

Noninvasive prenatal testing using cell-free fetal DNA in maternal plasma.

Dharajiya N, Zwiefelhofer T, Guan X, Angkachatchai V, Saldivar JS.

Curr Protoc Hum Genet. 2015 Jan 20;84:8.15.1-20. doi: 10.1002/0471142905.hg0815s84. Review.

PMID:
25599670
19.

Non-invasive prenatal measurement of the fetal genome.

Fan HC, Gu W, Wang J, Blumenfeld YJ, El-Sayed YY, Quake SR.

Nature. 2012 Jul 19;487(7407):320-4. doi: 10.1038/nature11251. Erratum in: Nature. 2012 Sep 13;489(7415):326.

20.

Probabilistic method for detecting copy number variation in a fetal genome using maternal plasma sequencing.

Rampášek L, Arbabi A, Brudno M.

Bioinformatics. 2014 Jun 15;30(12):i212-8. doi: 10.1093/bioinformatics/btu292.

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