-
1
-
-
0022650629
-
Randomised controlled trial of genetic amniocentesis in 4606 low-risk women
-
Tabor, A., Philip, J., Madsen, M., Bang, J., Obel, E. and Nrgaard-Pedersen, B. (1986) Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet, 1, 1287-1293.
-
(1986)
Lancet
, vol.1
, pp. 1287-1293
-
-
Tabor, A.1
Philip, J.2
Madsen, M.3
Bang, J.4
Obel, E.5
Nrgaard-Pedersen, B.6
-
2
-
-
0342618532
-
Presence of fetal DNA in maternal plasma and serum
-
DOI 10.1016/S0140-6736(97)02174-0
-
Lo, Y., Corbetta, N., Chamberlain, P., Rai, V., Sargent, I., Redman, C. and Wainscoat, J. (1997) Presence of fetal DNA in maternal plasma and serum. Lancet, 350, 485-487. (Pubitemid 27343304
-
(1997)
Lancet
, vol.350
, Issue.9076
, pp. 485-487
-
-
Dennis Lo, Y.M.1
Corbetta, N.2
Chamberlain, P.F.3
Rai, V.4
Sargent, I.L.5
Redman, C.W.G.6
Wainscoat, J.S.7
-
3
-
-
0347898005
-
Quantitative analysis of fetal DNA in maternal plasma and serum: Implications for noninvasive prenatal diagnosis
-
Lo, Y., Tein, M., Lau, T., Haines, C., Leung, T., Poon, P., Wainscoat, J., Johnson, P., Chang, A. and Hjelm, N. (1998) Quantitative analysis of fetal DNA in maternal plasma and serum: Implications for noninvasive prenatal diagnosis. Am. J. Hum. Genet., 62, 768-775.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 768-775
-
-
Lo, Y.1
Tein, M.2
Lau, T.3
Haines, C.4
Leung, T.5
Poon, P.6
Wainscoat, J.7
Johnson, P.8
Chang, A.9
Hjelm, N.10
-
4
-
-
78650207098
-
Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus
-
61ra91
-
Lo, Y., Chan, K., Sun, H., Chen, E., Jiang, P., Lun, F., Zheng, Y., Leung, T., Lau, T., Cantor, C. et al. (2010) Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci. Trans. Med., 2, 61ra91.
-
(2010)
Sci. Trans. Med.
, vol.2
-
-
Lo, Y.1
Chan, K.2
Sun, H.3
Chen, E.4
Jiang, P.5
Lun, F.6
Zheng, Y.7
Leung, T.8
Lau, T.9
Cantor, C.10
-
5
-
-
58149490683
-
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
-
Chiu, R., Chan, K., Gao, Y., Lau, V., Zheng, W., Leung, T., Foo, C., Xie, B., Tsui, N., Lun, F. et al. (2008) Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc. Natl Acad. Sci. USA., 105, 20458-20463.
-
(2008)
Proc. Natl Acad. Sci. USA.
, vol.105
, pp. 20458-20463
-
-
Chiu, R.1
Chan, K.2
Gao, Y.3
Lau, V.4
Zheng, W.5
Leung, T.6
Foo, C.7
Xie, B.8
Tsui, N.9
Lun, F.10
-
6
-
-
77649208031
-
Maternal plasma DNA analysis with massively parallel sequencing by ligation for noninvasive prenatal diagnosis of trisomy 21
-
Chiu, R., Sun, H., Akolekar, R., Clouser, C., Lee, C., McKernan, K., Zhou, D., Nicolaides, K. and Lo, Y. (2010) Maternal plasma DNA analysis with massively parallel sequencing by ligation for noninvasive prenatal diagnosis of trisomy 21. Clin. Chem., 56, 459-463.
-
(2010)
Clin. Chem.
, vol.56
, pp. 459-463
-
-
Chiu, R.1
Sun, H.2
Akolekar, R.3
Clouser, C.4
Lee, C.5
McKernan, K.6
Zhou, D.7
Nicolaides, K.8
Lo, Y.9
-
7
-
-
78751683468
-
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: Large scale validity study
-
Chiu, R., Akolekar, R., Zheng, Y., Leung, T., Sun, H., Chan, K., Lun, F., Go, A., Lau, E., To, W. et al. (2011) Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: Large scale validity study. BMJ, 342, c7401.
-
(2011)
BMJ
, vol.342
-
-
Chiu, R.1
Akolekar, R.2
Zheng, Y.3
Leung, T.4
Sun, H.5
Chan, K.6
Lun, F.7
Go, A.8
Lau, E.9
To, W.10
-
8
-
-
84864297424
-
DNA sequencing of maternal plasma to identify down syndrome and other trisomies in multiple gestations
-
Canick, J., Kloza, E., Lambert-Messerlian, G., Haddow, J., Ehrich, M., van denBoom, D., Bombard, A., Deciu, C. and Palomaki, G. (2012) DNA sequencing of maternal plasma to identify down syndrome and other trisomies in multiple gestations. Prenat. Diagn., 32, 730-734.
-
(2012)
Prenat. Diagn.
, vol.32
, pp. 730-734
-
-
Canick, J.1
Kloza, E.2
Lambert-Messerlian, G.3
Haddow, J.4
Ehrich, M.5
Van Den Boom, D.6
Bombard, A.7
Deciu, C.8
Palomaki, G.9
-
9
-
-
79959937504
-
Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing
-
Chen, E., Chiu, R., Sun, H., Akolekar, R., Chan, K., Leung, T., Jiang, P., Zheng, Y., Lun, F., Chan, L. et al. (2011) Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PloS One, 6, e21791.
-
(2011)
PloS One
, vol.6
-
-
Chen, E.1
Chiu, R.2
Sun, H.3
Akolekar, R.4
Chan, K.5
Leung, T.6
Jiang, P.7
Zheng, Y.8
Lun, F.9
Chan, L.10
-
10
-
-
84870175220
-
Noninvasive fetal trisomy (nifty test: An advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies
-
Jiang, F., Ren, J., Chen, F., Zhou, Y., Xie, J., Dan, S., Su, Y., Xie, J., Yin, B., Su, W. et al. (2012) Noninvasive fetal trisomy (nifty) test: An advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies. BMC Med. Genomics, 5, 57.
-
(2012)
BMC Med. Genomics
, vol.5
, pp. 57
-
-
Jiang, F.1
Ren, J.2
Chen, F.3
Zhou, Y.4
Xie, J.5
Dan, S.6
Su, Y.7
Xie, J.8
Yin, B.9
Su, W.10
-
11
-
-
79959759113
-
Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood
-
Sehnert, A., Rhees, B., Comstock, D., deFeo, E., Heilek, G., Burke, J. and Rava, R. (2011) Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin. Chem., 57, 1042-1049.
-
(2011)
Clin. Chem.
, vol.57
, pp. 1042-1049
-
-
Sehnert, A.1
Rhees, B.2
Comstock, D.3
De Feo, E.4
Heilek, G.5
Burke, J.6
Rava, R.7
-
12
-
-
84863574483
-
Detection of microdeletion 22q11.2 in a fetus by nextgeneration sequencing of maternal plasma
-
Jensen, T., Dzakula, Z., Deciu, C., van denBoom, D. and Ehrich, M. (2012) Detection of microdeletion 22q11.2 in a fetus by nextgeneration sequencing of maternal plasma. Clin. Chem., 58, 1148-1151.
-
(2012)
Clin. Chem.
, vol.58
, pp. 1148-1151
-
-
Jensen, T.1
Dzakula, Z.2
Deciu, C.3
Van Den Boom, D.4
Ehrich, M.5
-
13
-
-
84873711791
-
Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma
-
Srinivasan, A., Bianchi, D., Huang, H., Sehnert, A. and Rava, R. (2013) Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am. J. Hum. Genet., 92, 167-176.
-
(2013)
Am. J. Hum. Genet.
, vol.92
, pp. 167-176
-
-
Srinivasan, A.1
Bianchi, D.2
Huang, H.3
Sehnert, A.4
Rava, R.5
-
14
-
-
84876269433
-
Noninvasive prenatal molecular karyotyping from maternal plasma
-
Yu, S., Jiang, P., Choy, K., Chan, K., Won, H., Leung, W., Lau, E., Tang, M., Leung, T., Lo, Y. et al. (2013) Noninvasive prenatal molecular karyotyping from maternal plasma. PloS One, 8, e60968.
-
(2013)
PloS One
, vol.8
-
-
Yu, S.1
Jiang, P.2
Choy, K.3
Chan, K.4
Won, H.5
Leung, W.6
Lau, E.7
Tang, M.8
Leung, T.9
Lo, Y.10
-
15
-
-
84872020299
-
Cancer genome scanning in plasma: Detection of tumor-Associated copy number aberrations, single-nucleotide variants, and tumoral heterogeneity by massively parallel sequencing
-
Chan, K., Jiang, P., Zheng, Y., Liao, G., Sun, H., Wong, J., Siu, S., Chan, W., Chan, S., Chan, A. et al. (2013) Cancer genome scanning in plasma: Detection of tumor-Associated copy number aberrations, single-nucleotide variants, and tumoral heterogeneity by massively parallel sequencing. Clin. Chem., 59, 211-124.
-
(2013)
Clin. Chem.
, vol.59
, pp. 211-124
-
-
Chan, K.1
Jiang, P.2
Zheng, Y.3
Liao, G.4
Sun, H.5
Wong, J.6
Siu, S.7
Chan, W.8
Chan, S.9
Chan, A.10
-
16
-
-
84862118837
-
Noninvasive whole-genome sequencing of a human fetus
-
137ra76
-
Kitzman, J., Snyder, M., Ventura, M., Lewis, A., Qiu, R., Simmons, L., Gammill, H., Rubens, C., Santillan, D., Murray, J. et al. (2012) Noninvasive whole-genome sequencing of a human fetus. Sci. Trans. Med., 4, 137ra76.
-
(2012)
Sci. Trans. Med.
, vol.4
-
-
Kitzman, J.1
Snyder, M.2
Ventura, M.3
Lewis, A.4
Qiu, R.5
Simmons, L.6
Gammill, H.7
Rubens, C.8
Santillan, D.9
Murray, J.10
-
17
-
-
84878135436
-
A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing
-
Chen, S., Lau, T., Zhang, C., Xu, C., Xu, Z., Hu, P., Xu, J., Huang, H., Pan, L., Jiang, F. et al. (2013) A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing. Prenat. Diagn., 33, 584-590.
-
(2013)
Prenat. Diagn.
, vol.33
, pp. 584-590
-
-
Chen, S.1
Lau, T.2
Zhang, C.3
Xu, C.4
Xu, Z.5
Hu, P.6
Xu, J.7
Huang, H.8
Pan, L.9
Jiang, F.10
-
18
-
-
84936916896
-
Robust locally weighted regression and smoothing scatterplots
-
Cleveland, W.S. (1979) Robust locally weighted regression and smoothing scatterplots. Journal of the American statistical association, 74, 829-836.
-
(1979)
Journal of the American statistical association
, vol.74
, pp. 829-836
-
-
Cleveland, W.S.1
-
19
-
-
67649884743
-
Fast and accurate short read alignment with burrows-wheeler transform
-
Li, H. and Durbin, R. (2009) Fast and accurate short read alignment with burrows-wheeler transform. Bioinformatics, 25, 1754-1760.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
20
-
-
62349130698
-
Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
-
Langmead, B., Trapnell, C., Pop, M. and Salzberg, S. (2009) Ultrafast and memory-efficient alignment of short DNA sequences to the human genome. Genome Bio., 10, R25.
-
(2009)
Genome Bio.
, vol.10
-
-
Langmead, B.1
Trapnell, C.2
Pop, M.3
Salzberg, S.4
-
21
-
-
69649109364
-
Circos: An information aesthetic for comparative genomics
-
Krzywinski, M., Schein, J., Birol, I., Connors, J., Gascoyne, R., Horsman, D., Jones, S. and Marra, M. (2009) Circos: An information aesthetic for comparative genomics. Genome Res., 19, 1639-1645.
-
(2009)
Genome Res.
, vol.19
, pp. 1639-1645
-
-
Krzywinski, M.1
Schein, J.2
Birol, I.3
Connors, J.4
Gascoyne, R.5
Horsman, D.6
Jones, S.7
Marra, M.8
-
22
-
-
67650711615
-
Soap2: An improved ultrafast tool for short read alignment
-
Li, R., Yu, C., Li, Y., Lam, T., Yiu, S., Kristiansen, K. and Wang, J. (2009) Soap2: An improved ultrafast tool for short read alignment. Bioinformatics, 25, 1966-1967.
-
(2009)
Bioinformatics
, vol.25
, pp. 1966-1967
-
-
Li, R.1
Yu, C.2
Li, Y.3
Lam, T.4
Yiu, S.5
Kristiansen, K.6
Wang, J.7
|