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Clinical performance of non-invasive prenatal testing (NIPT) using targeted cell-free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies.
Stokowski R, Wang E, White K, Batey A, Jacobsson B, Brar H, Balanarasimha M, Hollemon D, Sparks A, Nicolaides K, Musci TJ. Stokowski R, et al. Prenat Diagn. 2015 Dec;35(12):1243-6. doi: 10.1002/pd.4686. Epub 2015 Oct 25. Prenat Diagn. 2015. PMID: 26332378 Free PMC article.
Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy.
Sparks AB, Wang ET, Struble CA, Barrett W, Stokowski R, McBride C, Zahn J, Lee K, Shen N, Doshi J, Sun M, Garrison J, Sandler J, Hollemon D, Pattee P, Tomita-Mitchell A, Mitchell M, Stuelpnagel J, Song K, Oliphant A. Sparks AB, et al. Among authors: stokowski r. Prenat Diagn. 2012 Jan;32(1):3-9. doi: 10.1002/pd.2922. Epub 2012 Jan 6. Prenat Diagn. 2012. PMID: 22223233 Free PMC article. Clinical Trial.
Influence of temperature during transportation on cell-free DNA analysis.
Hidestrand M, Stokowski R, Song K, Oliphant A, Deavers J, Goetsch M, Simpson P, Kuhlman R, Ames M, Mitchell M, Tomita-Mitchell A. Hidestrand M, et al. Among authors: stokowski r. Fetal Diagn Ther. 2012;31(2):122-8. doi: 10.1159/000335020. Epub 2012 Jan 19. Fetal Diagn Ther. 2012. PMID: 22261730
Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21.
Patil N, Berno AJ, Hinds DA, Barrett WA, Doshi JM, Hacker CR, Kautzer CR, Lee DH, Marjoribanks C, McDonough DP, Nguyen BT, Norris MC, Sheehan JB, Shen N, Stern D, Stokowski RP, Thomas DJ, Trulson MO, Vyas KR, Frazer KA, Fodor SP, Cox DR. Patil N, et al. Among authors: stokowski rp. Science. 2001 Nov 23;294(5547):1719-23. doi: 10.1126/science.1065573. Science. 2001. PMID: 11721056
22 results