-
1
-
-
0029836445
-
Microsatellite alterations in serum DNA of head and neck cancer patients
-
COI: 1:CAS:528:DyaK28XlsFemsr4%3D, PID: 8782464
-
Nawroz H, Koch W, Anker P, Stroun M, Sidransky D. Microsatellite alterations in serum DNA of head and neck cancer patients. Nat Med. 1996;2:1035–7.
-
(1996)
Nat Med
, vol.2
, pp. 1035-1037
-
-
Nawroz, H.1
Koch, W.2
Anker, P.3
Stroun, M.4
Sidransky, D.5
-
2
-
-
0029821872
-
Microsatellite alterations in plasma DNA of small cell lung cancer patients
-
COI: 1:CAS:528:DyaK28XlsFenu7Y%3D, PID: 8782463
-
Chen XQ, Stroun M, Magnenat JL, Nicod LP, Kurt AM, Lyautey J, et al. Microsatellite alterations in plasma DNA of small cell lung cancer patients. Nat Med. 1996;2:1033–5.
-
(1996)
Nat Med
, vol.2
, pp. 1033-1035
-
-
Chen, X.Q.1
Stroun, M.2
Magnenat, J.L.3
Nicod, L.P.4
Kurt, A.M.5
Lyautey, J.6
-
3
-
-
0342618532
-
Presence of fetal DNA in maternal plasma and serum
-
COI: 1:STN:280:DyaK2svitVSkuw%3D%3D, PID: 9274585
-
Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350:485–7.
-
(1997)
Lancet
, vol.350
, pp. 485-487
-
-
Lo, Y.M.1
Corbetta, N.2
Chamberlain, P.F.3
Rai, V.4
Sargent, I.L.5
Redman, C.W.6
-
4
-
-
76449093190
-
Update on procedure-related risks for prenatal diagnosis techniques
-
PID: 20051662
-
Tabor A, Alfirevic Z. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther. 2010;27:1–7.
-
(2010)
Fetal Diagn Ther
, vol.27
, pp. 1-7
-
-
Tabor, A.1
Alfirevic, Z.2
-
5
-
-
80053559403
-
Implementing prenatal diagnosis based on cell-free fetal DNA: accurate identification of factors affecting fetal DNA yield
-
PID: 21998643
-
Barrett AN, Zimmermann BG, Wang D, Holloway A, Chitty LS. Implementing prenatal diagnosis based on cell-free fetal DNA: accurate identification of factors affecting fetal DNA yield. PLoS One. 2011;6:e25202.
-
(2011)
PLoS One
, vol.6
-
-
Barrett, A.N.1
Zimmermann, B.G.2
Wang, D.3
Holloway, A.4
Chitty, L.S.5
-
6
-
-
78650207098
-
Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus
-
COI: 1:CAS:528:DC%2BC3MXhsFKqurk%3D, PID: 21148127
-
Lo YMD, Chan KC, Sun H, Chen EZ, Jiang P, Lun FM, et al. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci Transl Med. 2010;2:61ra91.
-
(2010)
Sci Transl Med
, vol.2
, pp. 61ra91
-
-
Lo, Y.M.D.1
Chan, K.C.2
Sun, H.3
Chen, E.Z.4
Jiang, P.5
Lun, F.M.6
-
8
-
-
0026665013
-
Quantitation of targets for PCR by use of limiting dilution
-
COI: 1:CAS:528:DyaK3sXhslSksw%3D%3D, PID: 1389177
-
Sykes PJ, Neoh SH, Brisco MJ, Hughes E, Condon J, Morley AA. Quantitation of targets for PCR by use of limiting dilution. Biotechniques. 1992;13:444–9.
-
(1992)
Biotechniques
, vol.13
, pp. 444-449
-
-
Sykes, P.J.1
Neoh, S.H.2
Brisco, M.J.3
Hughes, E.4
Condon, J.5
Morley, A.A.6
-
9
-
-
85025111671
-
Digital assays part i: partitioning statistics and digital PCR
-
PID: 28448765
-
Basu AS. Digital assays part i: partitioning statistics and digital PCR. SLAS Technol. 2017;22:369–86.
-
(2017)
SLAS Technol
, vol.22
, pp. 369-386
-
-
Basu, A.S.1
-
10
-
-
81255175501
-
High-throughput droplet digital PCR system for absolute quantitation of DNA copy number
-
COI: 1:CAS:528:DC%2BC3MXhtlyhtLzL, PID: 22035192
-
Hindson BJ, Ness KD, Masquelier DA, Belgrader P, Heredia NJ, Makarewicz AJ, et al. High-throughput droplet digital PCR system for absolute quantitation of DNA copy number. Anal Chem. 2011;83:8604–10.
-
(2011)
Anal Chem
, vol.83
, pp. 8604-8610
-
-
Hindson, B.J.1
Ness, K.D.2
Masquelier, D.A.3
Belgrader, P.4
Heredia, N.J.5
Makarewicz, A.J.6
-
11
-
-
84921996965
-
Determining lower limits of detection of digital PCR assays for cancer-related gene mutations
-
PID: 27920993
-
Milbury CA, Zhong Q, Lin J, Williams M, Olson J, Link DR, et al. Determining lower limits of detection of digital PCR assays for cancer-related gene mutations. Biomol Detect Quantif. 2014;1:8–22.
-
(2014)
Biomol Detect Quantif
, vol.1
, pp. 8-22
-
-
Milbury, C.A.1
Zhong, Q.2
Lin, J.3
Williams, M.4
Olson, J.5
Link, D.R.6
-
12
-
-
84978657930
-
Multiplex detection of rare mutations by picoliter droplet based digital PCR: sensitivity and specificity considerations
-
PID: 27416070
-
Zonta E, Garlan F, Pécuchet N, Perez-Toralla K, Caen O, Milbury C, et al. Multiplex detection of rare mutations by picoliter droplet based digital PCR: sensitivity and specificity considerations. PLoS One. 2016;11:e0159094.
-
(2016)
PLoS One
, vol.11
-
-
Zonta, E.1
Garlan, F.2
Pécuchet, N.3
Perez-Toralla, K.4
Caen, O.5
Milbury, C.6
-
13
-
-
45849087630
-
High throughput gene expression measurement with real time PCR in a microfluidic dynamic array
-
PID: 18301740
-
Spurgeon SL, Jones RC, Ramakrishnan R. High throughput gene expression measurement with real time PCR in a microfluidic dynamic array. PLoS One. 2008;3:e1662.
-
(2008)
PLoS One
, vol.3
-
-
Spurgeon, S.L.1
Jones, R.C.2
Ramakrishnan, R.3
-
14
-
-
33751005301
-
Nanoliter high throughput quantitative PCR
-
PID: 17000636
-
Morrison T, Hurley J, Garcia J, Yoder K, Katz A, Roberts D, et al. Nanoliter high throughput quantitative PCR. Nucleic Acids Res. 2006;34:e123.
-
(2006)
Nucleic Acids Res
, vol.34
-
-
Morrison, T.1
Hurley, J.2
Garcia, J.3
Yoder, K.4
Katz, A.5
Roberts, D.6
-
15
-
-
84920545307
-
Considerations for digital PCR as an accurate molecular diagnostic tool
-
COI: 1:CAS:528:DC%2BC2MXptVKktA%3D%3D, PID: 25338683
-
Huggett JF, Cowen S, Foy CA. Considerations for digital PCR as an accurate molecular diagnostic tool. Clin Chem. 2015;61:79–88.
-
(2015)
Clin Chem
, vol.61
, pp. 79-88
-
-
Huggett, J.F.1
Cowen, S.2
Foy, C.A.3
-
16
-
-
84861960860
-
Digital PCR hits its stride
-
COI: 1:CAS:528:DC%2BC38XotVWhsLc%3D
-
Baker M. Digital PCR hits its stride. Nat Methods. 2012;9:541–4.
-
(2012)
Nat Methods
, vol.9
, pp. 541-544
-
-
Baker, M.1
-
17
-
-
84922596938
-
Digital PCR compartmentalization I. Single-molecule detection of rare mutations [in French]
-
Perez-Toralla K, et al. Digital PCR compartmentalization I. Single-molecule detection of rare mutations [in French]. Med Sci (Paris). 2015;31:84–92.
-
(2015)
Med Sci (Paris)
, vol.31
, pp. 84-92
-
-
Perez-Toralla, K.1
-
18
-
-
51449098381
-
Mathematical analysis of copy number variation in a DNA sample using digital PCR on a nanofluidic device
-
PID: 18682853
-
Dube S, Qin J, Ramakrishnan R. Mathematical analysis of copy number variation in a DNA sample using digital PCR on a nanofluidic device. PLoS One. 2008;3:e2876.
-
(2008)
PLoS One
, vol.3
-
-
Dube, S.1
Qin, J.2
Ramakrishnan, R.3
-
19
-
-
85021711837
-
The role of BEAMing and digital PCR for multiplexed analysis in molecular oncology in the era of next-generation sequencing
-
Denis JA, Guillerm E, Coulet F, Larsen AK, Lacorte J-M. The role of BEAMing and digital PCR for multiplexed analysis in molecular oncology in the era of next-generation sequencing. Mol Diagn Ther. 2017;21(6):587–600. 10.1007/s40291-017-0287-7.
-
(2017)
Mol Diagn Ther
, vol.21
, Issue.6
, pp. 587-600
-
-
Denis, J.A.1
Guillerm, E.2
Coulet, F.3
Larsen, A.K.4
Lacorte, J.-M.5
-
20
-
-
84908010787
-
Impact of variance components on reliability of absolute quantification using digital PCR
-
Jacobs BKM, Goetghebeur E, Clement L. Impact of variance components on reliability of absolute quantification using digital PCR. BMC Bioinform. 2014;15:283.
-
(2014)
BMC Bioinform
, vol.15
, pp. 283
-
-
Jacobs, B.K.M.1
Goetghebeur, E.2
Clement, L.3
-
22
-
-
84878431927
-
The digital MIQE guidelines: minimum information for publication of quantitative digital PCR experiments
-
COI: 1:CAS:528:DC%2BC3sXpslKgtbo%3D, PID: 23570709
-
Huggett JF, Foy CA, Benes V, Emslie K, Garson JA, Haynes R, et al. The digital MIQE guidelines: minimum information for publication of quantitative digital PCR experiments. Clin Chem. 2013;59:892–902.
-
(2013)
Clin Chem
, vol.59
, pp. 892-902
-
-
Huggett, J.F.1
Foy, C.A.2
Benes, V.3
Emslie, K.4
Garson, J.A.5
Haynes, R.6
-
23
-
-
33845512998
-
Hypermethylated RASSF1A in maternal plasma: a universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis
-
COI: 1:CAS:528:DC%2BD2sXhtw%3D%3D, PID: 17068167
-
Chan KCA, Ding C, Gerovassili A, Yeung SW, Chiu RW, Leung TN, et al. Hypermethylated RASSF1A in maternal plasma: a universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis. Clin Chem. 2006;52:2211–8.
-
(2006)
Clin Chem
, vol.52
, pp. 2211-2218
-
-
Chan, K.C.A.1
Ding, C.2
Gerovassili, A.3
Yeung, S.W.4
Chiu, R.W.5
Leung, T.N.6
-
24
-
-
0036932959
-
First trimester fetal sex determination in maternal serum using real-time PCR [in French]
-
COI: 1:STN:280:DC%2BD3s7ks1CgtA%3D%3D, PID: 12661284
-
Costa JM, Benachi A, Gautier E, Jouannic JM, Ernault P, Dumez Y. First trimester fetal sex determination in maternal serum using real-time PCR [in French]. Gynecol Obstet Fertil. 2002;30:953–7.
-
(2002)
Gynecol Obstet Fertil
, vol.30
, pp. 953-957
-
-
Costa, J.M.1
Benachi, A.2
Gautier, E.3
Jouannic, J.M.4
Ernault, P.5
Dumez, Y.6
-
25
-
-
0036692036
-
Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service
-
COI: 1:STN:280:DC%2BD38nislOjtA%3D%3D
-
Finning KM, Martin PG, Soothill PW, Avent ND. Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service. Transfusion (Paris). 2002;42:1079–85.
-
(2002)
Transfusion (Paris)
, vol.42
, pp. 1079-1085
-
-
Finning, K.M.1
Martin, P.G.2
Soothill, P.W.3
Avent, N.D.4
-
26
-
-
80051564369
-
Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis
-
COI: 1:CAS:528:DC%2BC3MXhtVWlsrrN, PID: 21828326
-
Devaney SA, Palomaki GE, Scott JA, Bianchi DW. Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis. JAMA. 2011;306:627–36.
-
(2011)
JAMA
, vol.306
, pp. 627-636
-
-
Devaney, S.A.1
Palomaki, G.E.2
Scott, J.A.3
Bianchi, D.W.4
-
27
-
-
67650263847
-
Prenatal RhD testing: a review of studies published from 2006 to 2008
-
PID: 21113260
-
Legler TJ, Müller SP, Haverkamp A, Grill S, Hahn S. Prenatal RhD testing: a review of studies published from 2006 to 2008. Transfus Med Hemother. 2009;36:189–98.
-
(2009)
Transfus Med Hemother
, vol.36
, pp. 189-198
-
-
Legler, T.J.1
Müller, S.P.2
Haverkamp, A.3
Grill, S.4
Hahn, S.5
-
28
-
-
84889607086
-
Noninvasive fetal RHD genotyping by microfluidics digital PCR using maternal plasma from two alloimmunized women with the variant RHD(IVS3 + 1G > A) allele
-
PID: 23999893
-
Tsui NBY, Hyland CA, Gardener GJ, Danon D, Fisk NM, Millard G, et al. Noninvasive fetal RHD genotyping by microfluidics digital PCR using maternal plasma from two alloimmunized women with the variant RHD(IVS3 + 1G > A) allele. Prenat Diagn. 2013;33:1214–6.
-
(2013)
Prenat Diagn
, vol.33
, pp. 1214-1216
-
-
Tsui, N.B.Y.1
Hyland, C.A.2
Gardener, G.J.3
Danon, D.4
Fisk, N.M.5
Millard, G.6
-
29
-
-
84946548020
-
Fetal sex and RHD genotyping with digital PCR demonstrates greater sensitivity than real-time PCR
-
COI: 1:CAS:528:DC%2BC28XjtVSgsb0%3D, PID: 26354802
-
Sillence KA, Roberts LA, Hollands HJ, Thompson HP, Kiernan M, Madgett TE, et al. Fetal sex and RHD genotyping with digital PCR demonstrates greater sensitivity than real-time PCR. Clin Chem. 2015;61:1399–407.
-
(2015)
Clin Chem
, vol.61
, pp. 1399-1407
-
-
Sillence, K.A.1
Roberts, L.A.2
Hollands, H.J.3
Thompson, H.P.4
Kiernan, M.5
Madgett, T.E.6
-
30
-
-
84955514826
-
Performance of droplet digital PCR in non-invasive fetal RHD genotyping—comparison with a routine real-time PCR based approach
-
PID: 26562517
-
Svobodová I, Pazourková E, Hořínek A, Novotná M, Calda P, Korabečná M. Performance of droplet digital PCR in non-invasive fetal RHD genotyping—comparison with a routine real-time PCR based approach. PLoS One. 2015;10:e0142572.
-
(2015)
PLoS One
, vol.10
-
-
Svobodová, I.1
Pazourková, E.2
Hořínek, A.3
Novotná, M.4
Calda, P.5
Korabečná, M.6
-
31
-
-
85002862842
-
Droplet digital PCR, a new approach to analyze fetal DNA from maternal blood: application to the determination of fetal RHD genotype
-
Orhant L, Rondeau S, Vasson A, Anselem O, Goffinet F, Allach El Khattabi L, et al. Droplet digital PCR, a new approach to analyze fetal DNA from maternal blood: application to the determination of fetal RHD genotype. Ann Biol Clin (Paris). 2006;74:269–77.
-
(2006)
Ann Biol Clin (Paris)
, vol.74
, pp. 269-277
-
-
Orhant, L.1
Rondeau, S.2
Vasson, A.3
Anselem, O.4
Goffinet, F.5
Allach El Khattabi, L.6
-
32
-
-
85026548832
-
Rapid RHD zygosity determination using digital PCR
-
COI: 1:CAS:528:DC%2BC2sXhvFGku73I, PID: 28615230
-
Sillence KA, Halawani AJ, Tounsi WA, Clarke KA, Kiernan M, Madgett TE, et al. Rapid RHD zygosity determination using digital PCR. Clin Chem. 2017;63:1388–97.
-
(2017)
Clin Chem
, vol.63
, pp. 1388-1397
-
-
Sillence, K.A.1
Halawani, A.J.2
Tounsi, W.A.3
Clarke, K.A.4
Kiernan, M.5
Madgett, T.E.6
-
33
-
-
84963706365
-
Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia
-
COI: 1:CAS:528:DC%2BC28XnslCqt7g%3D, PID: 26850935
-
Orhant L, Anselem O, Fradin M, Becker PH, Beugnet C, Deburgrave N, et al. Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia. Prenat Diagn. 2016;36:397–406.
-
(2016)
Prenat Diagn
, vol.36
, pp. 397-406
-
-
Orhant, L.1
Anselem, O.2
Fradin, M.3
Becker, P.H.4
Beugnet, C.5
Deburgrave, N.6
-
34
-
-
85083140414
-
Non-invasive prenatal diagnosis of cystic fibrosis and neurofibromatosis type 1 from maternal plasma: detection of paternally-inherited mutations using droplet digital PCR
-
(accepted)
-
Gruber A, Pacault M, El Khattabi LA, Vaucouleur N, Orhant L, Bienvenu T, et al. Non-invasive prenatal diagnosis of cystic fibrosis and neurofibromatosis type 1 from maternal plasma: detection of paternally-inherited mutations using droplet digital PCR. Clin Chem Lab Med. 2017 (accepted).
-
(2017)
Clin Chem Lab Med
-
-
Gruber, A.1
Pacault, M.2
El Khattabi, L.A.3
Vaucouleur, N.4
Orhant, L.5
Bienvenu, T.6
-
35
-
-
84955466264
-
A non-invasive droplet digital PCR (ddPCR) assay to detect paternal CFTR mutations in the cell-free fetal DNA (cffDNA) of three pregnancies at risk of cystic fibrosis via compound heterozygosity
-
PID: 26561302
-
Debrand E, Lykoudi A, Bradshaw E, Allen SK. A non-invasive droplet digital PCR (ddPCR) assay to detect paternal CFTR mutations in the cell-free fetal DNA (cffDNA) of three pregnancies at risk of cystic fibrosis via compound heterozygosity. PLoS One. 2015;10:e0142729.
-
(2015)
PLoS One
, vol.10
-
-
Debrand, E.1
Lykoudi, A.2
Bradshaw, E.3
Allen, S.K.4
-
36
-
-
34548727890
-
Digital PCR for the molecular detection of fetal chromosomal aneuploidy
-
COI: 1:CAS:528:DC%2BD2sXpt1Gnsrs%3D, PID: 17664418
-
Lo YMD, Lun FM, Chan KC, Tsui NB, Chong KC, Lau TK, et al. Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc Natl Acad Sci USA. 2007;104:13116–21.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 13116-13121
-
-
Lo, Y.M.D.1
Lun, F.M.2
Chan, K.C.3
Tsui, N.B.4
Chong, K.C.5
Lau, T.K.6
-
37
-
-
64249172678
-
Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy
-
PID: 19375573
-
Fan HC, Blumenfeld YJ, El-Sayed YY, Chueh J, Quake SR. Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy. Am J Obstet Gynecol. 2009;200:543.e1–7.
-
(2009)
Am J Obstet Gynecol
, vol.200
, pp. 543-547
-
-
Fan, H.C.1
Blumenfeld, Y.J.2
El-Sayed, Y.Y.3
Chueh, J.4
Quake, S.R.5
-
38
-
-
84862507346
-
Digital PCR for noninvasive detection of aneuploidy: power analysis equations for feasibility
-
PID: 22538702
-
Evans MI, Wright DA, Pergament E, Cuckle HS, Nicolaides KH. Digital PCR for noninvasive detection of aneuploidy: power analysis equations for feasibility. Fetal Diagn Ther. 2012;31:244–7.
-
(2012)
Fetal Diagn Ther
, vol.31
, pp. 244-247
-
-
Evans, M.I.1
Wright, D.A.2
Pergament, E.3
Cuckle, H.S.4
Nicolaides, K.H.5
-
39
-
-
84969758422
-
Could digital PCR be an alternative as a non-invasive prenatal test for trisomy 21: a proof of concept study
-
PID: 27167625
-
El Khattabi LA, Rouillac-Le Sciellour C, Le Tessier D, Luscan A, Coustier A, Porcher R, et al. Could digital PCR be an alternative as a non-invasive prenatal test for trisomy 21: a proof of concept study. PLoS One. 2016;11:e0155009.
-
(2016)
PLoS One
, vol.11
-
-
El Khattabi, L.A.1
Rouillac-Le Sciellour, C.2
Le Tessier, D.3
Luscan, A.4
Coustier, A.5
Porcher, R.6
-
40
-
-
84960158680
-
Accuracy of non-invasive prenatal testing using cell-free DNA for detection of down, Edwards and Patau syndromes: a systematic review and meta-analysis
-
PID: 26781507
-
Taylor-Phillips S, Freeman K, Geppert J, Agbebiyi A, Uthman OA, Madan J, et al. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of down, Edwards and Patau syndromes: a systematic review and meta-analysis. BMJ Open. 2016;6:e010002.
-
(2016)
BMJ Open
, vol.6
-
-
Taylor-Phillips, S.1
Freeman, K.2
Geppert, J.3
Agbebiyi, A.4
Uthman, O.A.5
Madan, J.6
-
41
-
-
85016075051
-
Noninvasive prenatal testing for fetal aneuploidy and single gene disorders
-
PID: 28342726
-
Skrzypek H, Hui L. Noninvasive prenatal testing for fetal aneuploidy and single gene disorders. Best Pract Res Clin Obstet Gynaecol. 2017;42:26–38.
-
(2017)
Best Pract Res Clin Obstet Gynaecol
, vol.42
, pp. 26-38
-
-
Skrzypek, H.1
Hui, L.2
-
42
-
-
84868288522
-
Genomic analysis of fetal nucleic acids in maternal blood
-
COI: 1:CAS:528:DC%2BC38XhsVGit7zM
-
Lo YMD, Chiu RWK. Genomic analysis of fetal nucleic acids in maternal blood. Annu Rev Genom Hum Genet. 2012;13:285–306.
-
(2012)
Annu Rev Genom Hum Genet
, vol.13
, pp. 285-306
-
-
Lo, Y.M.D.1
Chiu, R.W.K.2
-
44
-
-
33748587336
-
Getting more from digital SNP data
-
PID: 16397858
-
El Karoui N, Zhou W, Whittemore AS. Getting more from digital SNP data. Stat Med. 2006;25:3124–33.
-
(2006)
Stat Med
, vol.25
, pp. 3124-3133
-
-
El Karoui, N.1
Zhou, W.2
Whittemore, A.S.3
-
45
-
-
58149401202
-
Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma
-
COI: 1:CAS:528:DC%2BD1cXhsFCmtbrO, PID: 19060211
-
Lun FMF, Tsui NB, Chan KC, Leung TY, Lau TK, Charoenkwan P, et al. Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma. Proc Natl Acad Sci USA. 2008;105:19920–5.
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 19920-19925
-
-
Lun, F.M.F.1
Tsui, N.B.2
Chan, K.C.3
Leung, T.Y.4
Lau, T.K.5
Charoenkwan, P.6
-
46
-
-
84861658383
-
Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia
-
COI: 1:CAS:528:DC%2BC38XosFegtL8%3D, PID: 22451622
-
Barrett AN, McDonnell TCR, Chan KCA, Chitty LS. Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia. Clin Chem. 2012;58:1026–32.
-
(2012)
Clin Chem
, vol.58
, pp. 1026-1032
-
-
Barrett, A.N.1
McDonnell, T.C.R.2
Chan, K.C.A.3
Chitty, L.S.4
-
47
-
-
79953703694
-
Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA
-
COI: 1:CAS:528:DC%2BC3MXkslagurg%3D, PID: 21263151
-
Tsui NBY, Kadir RA, Chan KC, Chi C, Mellars G, Tuddenham EG, et al. Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Blood. 2011;117:3684–91.
-
(2011)
Blood
, vol.117
, pp. 3684-3691
-
-
Tsui, N.B.Y.1
Kadir, R.A.2
Chan, K.C.3
Chi, C.4
Mellars, G.5
Tuddenham, E.G.6
-
48
-
-
85026312850
-
Noninvasive detection of F8 int 22 h-related inversions and sequence variants in maternal plasma of hemophilia carriers
-
COI: 1:CAS:528:DC%2BC2sXhs1aqsLvM, PID: 28490568
-
Hudecova I, Jiang P, Davies J, Lo YMD, Kadir RA, Chiu RWK. Noninvasive detection of F8 int 22 h-related inversions and sequence variants in maternal plasma of hemophilia carriers. Blood. 2017;130:340–7.
-
(2017)
Blood
, vol.130
, pp. 340-347
-
-
Hudecova, I.1
Jiang, P.2
Davies, J.3
Lo, Y.M.D.4
Kadir, R.A.5
Chiu, R.W.K.6
-
49
-
-
84873711791
-
Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma
-
COI: 1:CAS:528:DC%2BC3sXnslKgtw%3D%3D, PID: 23313373
-
Srinivasan A, Bianchi DW, Huang H, Sehnert AJ, Rava RP. Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am J Hum Genet. 2013;92:167–76.
-
(2013)
Am J Hum Genet
, vol.92
, pp. 167-176
-
-
Srinivasan, A.1
Bianchi, D.W.2
Huang, H.3
Sehnert, A.J.4
Rava, R.P.5
-
50
-
-
84925707774
-
Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma
-
COI: 1:CAS:528:DC%2BC2MXlsl2gsrk%3D, PID: 25710461
-
Zhao C, Tynan J, Ehrich M, Hannum G, McCullough R, Saldivar JS, et al. Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma. Clin Chem. 2015;61:608–16.
-
(2015)
Clin Chem
, vol.61
, pp. 608-616
-
-
Zhao, C.1
Tynan, J.2
Ehrich, M.3
Hannum, G.4
McCullough, R.5
Saldivar, J.S.6
-
51
-
-
84924766673
-
Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes
-
PID: 25479548
-
Wapner RJ, Babiarz JE, Levy B, Stosic M, Zimmermann B, Sigurjonsson S, et al. Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes. Am J Obstet Gynecol. 2015;212:332.e1–9.
-
(2015)
Am J Obstet Gynecol
, vol.212
, pp. 332-339
-
-
Wapner, R.J.1
Babiarz, J.E.2
Levy, B.3
Stosic, M.4
Zimmermann, B.5
Sigurjonsson, S.6
-
52
-
-
84900427521
-
Noninvasive prenatal testing for microdeletion syndromes and expanded trisomies: proceed with caution
-
PID: 24785862
-
Vora NL, OʼBrien BM. Noninvasive prenatal testing for microdeletion syndromes and expanded trisomies: proceed with caution. Obstet Gynecol. 2014;123:1097–9.
-
(2014)
Obstet Gynecol
, vol.123
, pp. 1097-1099
-
-
Vora, N.L.1
OʼBrien, B.M.2
-
53
-
-
84989288335
-
Mapping the deletion endpoints in individuals with 22q11.2 deletion syndrome by droplet digital PCR
-
PID: 25312060
-
Hwang VJ, Maar D, Regan J, Angkustsiri K, Simon TJ, Tassone F. Mapping the deletion endpoints in individuals with 22q11.2 deletion syndrome by droplet digital PCR. BMC Med Genet. 2014;15:106.
-
(2014)
BMC Med Genet
, vol.15
, pp. 106
-
-
Hwang, V.J.1
Maar, D.2
Regan, J.3
Angkustsiri, K.4
Simon, T.J.5
Tassone, F.6
-
54
-
-
84920517933
-
Screening newborn blood spots for 22q11.2 deletion syndrome using multiplex droplet digital PCR
-
COI: 1:CAS:528:DC%2BC2MXptVKrug%3D%3D, PID: 25388430
-
Pretto D, Maar D, Yrigollen CM, Regan J, Tassone F. Screening newborn blood spots for 22q11.2 deletion syndrome using multiplex droplet digital PCR. Clin Chem. 2015;61:182–90.
-
(2015)
Clin Chem
, vol.61
, pp. 182-190
-
-
Pretto, D.1
Maar, D.2
Yrigollen, C.M.3
Regan, J.4
Tassone, F.5
-
55
-
-
84954515531
-
Prenatal diagnosis innovation: genome sequencing of maternal plasma
-
COI: 1:CAS:528:DC%2BC2MXhs1yjsL%2FN, PID: 26473414
-
Wong FCK, Lo YMD. Prenatal diagnosis innovation: genome sequencing of maternal plasma. Annu Rev Med. 2016;67:419–32.
-
(2016)
Annu Rev Med
, vol.67
, pp. 419-432
-
-
Wong, F.C.K.1
Lo, Y.M.D.2
-
56
-
-
77955980639
-
DNA methylation profiling of human placentas reveals promoter hypomethylation of multiple genes in early-onset preeclampsia
-
COI: 1:CAS:528:DC%2BC3cXhtVCnurnF, PID: 20442742
-
Yuen RK, Peñaherrera MS, von Dadelszen P, McFadden DE, Robinson WP. DNA methylation profiling of human placentas reveals promoter hypomethylation of multiple genes in early-onset preeclampsia. Eur J Hum Genet. 2010;18:1006–12.
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 1006-1012
-
-
Yuen, R.K.1
Peñaherrera, M.S.2
von Dadelszen, P.3
McFadden, D.E.4
Robinson, W.P.5
-
57
-
-
84876482665
-
Promoter hypomethylation of TIMP3 is associated with pre-eclampsia in a Chinese population
-
COI: 1:CAS:528:DC%2BC3sXjtF2kt78%3D, PID: 23172037
-
Xiang Y, Zhang X, Li Q, Xu J, Zhou X, Wang T, et al. Promoter hypomethylation of TIMP3 is associated with pre-eclampsia in a Chinese population. Mol Hum Reprod. 2013;19:153–9.
-
(2013)
Mol Hum Reprod
, vol.19
, pp. 153-159
-
-
Xiang, Y.1
Zhang, X.2
Li, Q.3
Xu, J.4
Zhou, X.5
Wang, T.6
-
58
-
-
84929069769
-
Quantification of epigenetic biomarkers: an evaluation of established and emerging methods for DNA methylation analysis
-
Redshaw N, Huggett JF, Taylor MS, Foy CA, Devonshire AS. Quantification of epigenetic biomarkers: an evaluation of established and emerging methods for DNA methylation analysis. BMC Genom. 2014;15:1174.
-
(2014)
BMC Genom
, vol.15
, pp. 1174
-
-
Redshaw, N.1
Huggett, J.F.2
Taylor, M.S.3
Foy, C.A.4
Devonshire, A.S.5
-
59
-
-
0033762298
-
Presence of fetal RNA in maternal plasma
-
COI: 1:CAS:528:DC%2BD3cXotFejsb4%3D, PID: 11067820
-
Poon LL, Leung TN, Lau TK, Lo YM. Presence of fetal RNA in maternal plasma. Clin Chem. 2000;46:1832–4.
-
(2000)
Clin Chem
, vol.46
, pp. 1832-1834
-
-
Poon, L.L.1
Leung, T.N.2
Lau, T.K.3
Lo, Y.M.4
-
60
-
-
66849131588
-
A strategy for identifying circulating placental RNA markers for fetal growth assessment
-
COI: 1:CAS:528:DC%2BD1MXmtlKqt7g%3D, PID: 19226523
-
Pang WWI, Tsui MH, Sahota D, Leung TY, Lau TK, Lo YM, et al. A strategy for identifying circulating placental RNA markers for fetal growth assessment. Prenat Diagn. 2009;29:495–504.
-
(2009)
Prenat Diagn
, vol.29
, pp. 495-504
-
-
Pang, W.W.I.1
Tsui, M.H.2
Sahota, D.3
Leung, T.Y.4
Lau, T.K.5
Lo, Y.M.6
-
61
-
-
85028556221
-
Measuring fetal brain and lung transcripts in amniotic fluid supernatant: a comparison of digital PCR and RT-qPCR methods
-
Hui L, Beard S, Hannan NJ. Measuring fetal brain and lung transcripts in amniotic fluid supernatant: a comparison of digital PCR and RT-qPCR methods. J Matern Fetal Neonatal Med. 2017;24:1–6. 10.1080/14767058.2017.1367378.
-
(2017)
J Matern Fetal Neonatal Med
, vol.24
, pp. 1-6
-
-
Hui, L.1
Beard, S.2
Hannan, N.J.3
-
62
-
-
84922329190
-
Stability of absolute copy number of housekeeping genes in preeclamptic and normal placentas, as measured by digital PCR
-
PID: 25454476
-
Kaitu’u-Lino TJ, Hastie R, Cannon P, Lee S, Stock O, Hannan NJ, et al. Stability of absolute copy number of housekeeping genes in preeclamptic and normal placentas, as measured by digital PCR. Placenta. 2014;35:1106–9.
-
(2014)
Placenta
, vol.35
, pp. 1106-1109
-
-
Kaitu’u-Lino, T.J.1
Hastie, R.2
Cannon, P.3
Lee, S.4
Stock, O.5
Hannan, N.J.6
-
63
-
-
84920514296
-
Developing noninvasive diagnosis for single-gene disorders: the role of digital PCR
-
COI: 1:CAS:528:DC%2BC2MXnvFGmsrs%3D, PID: 24740232
-
Barrett AN, Chitty LS. Developing noninvasive diagnosis for single-gene disorders: the role of digital PCR. Methods Mol Biol. 2014;1160:215–28.
-
(2014)
Methods Mol Biol
, vol.1160
, pp. 215-228
-
-
Barrett, A.N.1
Chitty, L.S.2
-
64
-
-
84943657622
-
Digital PCR analysis of circulating nucleic acids
-
COI: 1:CAS:528:DC%2BC2MXlvVSmtbk%3D, PID: 25828047
-
Hudecova I. Digital PCR analysis of circulating nucleic acids. Clin Biochem. 2015;48:948–56.
-
(2015)
Clin Biochem
, vol.48
, pp. 948-956
-
-
Hudecova, I.1
|