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Results: 19

1.

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-i218. doi: 10.1093/bioinformatics/btu292.

PMID:
24931986
[PubMed - in process]
Free PMC Article
2.

Noninvasive in vivo monitoring of tissue-specific global gene expression in humans.

Koh W, Pan W, Gawad C, Fan HC, Kerchner GA, Wyss-Coray T, Blumenfeld YJ, El-Sayed YY, Quake SR.

Proc Natl Acad Sci U S A. 2014 May 20;111(20):7361-6. doi: 10.1073/pnas.1405528111. Epub 2014 May 5.

PMID:
24799715
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Long-term persistence and effects of fetal microchimerisms on disease onset and status in a cohort of women with rheumatoid arthritis and systemic lupus erythematosus.

Kekow M, Barleben M, Drynda S, Jakubiczka S, Kekow J, Brune T.

BMC Musculoskelet Disord. 2013 Nov 18;14:325. doi: 10.1186/1471-2474-14-325.

PMID:
24245522
[PubMed - in process]
Free PMC Article
4.

Circulating nucleic acids in plasma and serum: applications in diagnostic techniques for noninvasive prenatal diagnosis.

Gahan PB.

Int J Womens Health. 2013 Apr 17;5:177-86. doi: 10.2147/IJWH.S34442. Print 2013.

PMID:
23637563
[PubMed]
Free PMC Article
5.

Noninvasive prenatal molecular karyotyping from maternal plasma.

Yu SC, Jiang P, Choy KW, Chan KC, Won HS, Leung WC, Lau ET, Tang MH, Leung TY, Lo YM, Chiu RW.

PLoS One. 2013 Apr 17;8(4):e60968. doi: 10.1371/journal.pone.0060968. Print 2013.

PMID:
23613765
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Noninvasive fetal genome sequencing: a primer.

Snyder MW, Simmons LE, Kitzman JO, Santillan DA, Santillan MK, Gammill HS, Shendure J.

Prenat Diagn. 2013 Jun;33(6):547-54. doi: 10.1002/pd.4097. Epub 2013 Apr 1. Review.

PMID:
23553552
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

The role of canonical and noncanonical pre-mRNA splicing in plant stress responses.

Dubrovina AS, Kiselev KV, Zhuravlev YN.

Biomed Res Int. 2013;2013:264314. doi: 10.1155/2013/264314. Epub 2012 Dec 26. Review.

PMID:
23509698
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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.

PMID:
23445999
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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.

PMID:
23445748
[PubMed]
Free PMC Article
10.

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation.

Hiatt JB, Pritchard CC, Salipante SJ, O'Roak BJ, Shendure J.

Genome Res. 2013 May;23(5):843-54. doi: 10.1101/gr.147686.112. Epub 2013 Feb 4.

PMID:
23382536
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

High-throughput sequencing for biology and medicine.

Soon WW, Hariharan M, Snyder MP.

Mol Syst Biol. 2013;9:640. doi: 10.1038/msb.2012.61. Review.

PMID:
23340846
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma.

Srinivasan A, Bianchi DW, Huang H, Sehnert AJ, Rava RP.

Am J Hum Genet. 2013 Feb 7;92(2):167-76. doi: 10.1016/j.ajhg.2012.12.006. Epub 2013 Jan 10.

PMID:
23313373
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

The future is now: single-cell genomics of bacteria and archaea.

Blainey PC.

FEMS Microbiol Rev. 2013 May;37(3):407-27. doi: 10.1111/1574-6976.12015. Epub 2013 Feb 11. Review.

PMID:
23298390
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

High-throughput sequencing and rare genetic diseases.

Makrythanasis P, Antonarakis SE.

Mol Syndromol. 2012 Nov;3(5):197-203. doi: 10.1159/000343941. Epub 2012 Nov 9.

PMID:
23293577
[PubMed]
Free PMC Article
15.

Chromosomal microarray versus karyotyping for prenatal diagnosis.

Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L.

N Engl J Med. 2012 Dec 6;367(23):2175-84. doi: 10.1056/NEJMoa1203382.

PMID:
23215555
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Non-invasive prenatal testing for single gene disorders: exploring the ethics.

Deans Z, Hill M, Chitty LS, Lewis C.

Eur J Hum Genet. 2013 Jul;21(7):713-8. doi: 10.1038/ejhg.2012.250. Epub 2012 Nov 28.

PMID:
23188047
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Applying deep DNA sequencing to common, complex pediatric traits.

Dagle JM, Murray JC.

Pediatrics. 2012 Dec;130(6):e1677-8. doi: 10.1542/peds.2012-2870. Epub 2012 Nov 19. No abstract available.

PMID:
23166345
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

The scope of prenatal diagnosis for women at increased risk for aneuploidies: views and preferences of professionals and potential users.

de Jong A, Dondorp WJ, Krumeich A, Boonekamp J, van Lith JM, de Wert GM.

J Community Genet. 2013 Jan;4(1):125-35. doi: 10.1007/s12687-012-0126-9. Epub 2012 Nov 9.

PMID:
23138342
[PubMed]
Free PMC Article
19.

De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention.

Gauthier J, Rouleau GA.

Genome Med. 2012 Sep 25;4(9):71. doi: 10.1186/gm372. eCollection 2012. Review.

PMID:
23009675
[PubMed]
Free PMC Article

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