-
1
-
-
77949831756
-
Structural variation in the human genome and its role in disease
-
Stankiewicz P, Lupski JR. Structural variation in the human genome and its role in disease. Annu Rev Med 2010;61:437-55.
-
(2010)
Annu Rev Med
, vol.61
, pp. 437-455
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
2
-
-
77950461601
-
Origins and functional impact of copy number variation in the human genome
-
Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, et al. Origins and functional impact of copy number variation in the human genome. Nature 2010;464:704-12.
-
(2010)
Nature
, vol.464
, pp. 704-712
-
-
Conrad, D.F.1
Pinto, D.2
Redon, R.3
Feuk, L.4
Gokcumen, O.5
Zhang, Y.6
-
3
-
-
58849161823
-
Single nucleotide polymorphism-based system improves the applicability of quantitative PCR for chimerism monitoring
-
Gineikiene E, Stoskus M, Griskevicius L. Single nucleotide polymorphism-based system improves the applicability of quantitative PCR for chimerism monitoring. J Mol Diagn 2009;11:66-74.
-
(2009)
J Mol Diagn
, vol.11
, pp. 66-74
-
-
Gineikiene, E.1
Stoskus, M.2
Griskevicius, L.3
-
4
-
-
0037220006
-
A novel rapid single nucleotide polymorphism (SNP)-based method for assessment of hematopoietic chimerism after allogeneic stem cell transplantation
-
DOI 10.1182/blood-2002-05-1365
-
Hochberg EP, Miklos DB, Neuberg D, Eichner DA, McLaughlin SF, Mattes-Ritz A, et al. A novel rapid single nucleotide polymorphism (SNP)-based method for assessment of hematopoietic chimerism after allogeneic stem cell transplantation. Blood 2003;101:363-9. (Pubitemid 36025933)
-
(2003)
Blood
, vol.101
, Issue.1
, pp. 363-369
-
-
Hochberg, E.P.1
Miklos, D.B.2
Neuberg, D.3
Eichner, D.A.4
McLaughlin, S.F.5
Mattes-Ritz, A.6
Alyea, E.P.7
Antin, J.H.8
Soiffer, R.J.9
Ritz, J.10
-
5
-
-
84872057068
-
Validation of chimerism in pediatric recipients of allogeneic hematopoietic stem cell transplantation (HSCT) a comparison between two methods: Real-time PCR (qPCR) vs. variable number tandem repeats PCR (VNTR PCR)
-
Kletzel M, Huang W, Olszewski M, Khan S. Validation of chimerism in pediatric recipients of allogeneic hematopoietic stem cell transplantation (HSCT) a comparison between two methods: Real-time PCR (qPCR) vs. variable number tandem repeats PCR (VNTR PCR). Chimerism 2013;4:1-8.
-
(2013)
Chimerism
, vol.4
, pp. 1-8
-
-
Kletzel, M.1
Huang, W.2
Olszewski, M.3
Khan, S.4
-
6
-
-
0347898005
-
Quantitative analysis of fetal DNA in maternal plasma and serum: Implications for noninvasive prenatal diagnosis
-
DOI 10.1086/301800
-
Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 1998;62:768-75. (Pubitemid 28194317)
-
(1998)
American Journal of Human Genetics
, vol.62
, Issue.4
, pp. 768-775
-
-
Lo, Y.M.D.1
Tein, M.S.C.2
Lau, T.K.3
Haines, C.J.4
Leung, T.N.5
Poon, P.M.K.6
Wainscoat, J.S.7
Johnson, P.J.8
Chang, A.M.Z.9
Hjelm, N.M.10
-
7
-
-
84870695892
-
Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci
-
Zimmermann B, Hill M, Gemelos G, Demko Z, Banjevic M, Baner J, et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn 2012;32:1233-41.
-
(2012)
Prenat Diagn
, vol.32
, pp. 1233-1241
-
-
Zimmermann, B.1
Hill, M.2
Gemelos, G.3
Demko, Z.4
Banjevic, M.5
Baner, J.6
-
8
-
-
52949141845
-
Integrated detection and population-genetic analysis of SNPs and copy number variation
-
McCarroll SA, Kuruvilla FG, Korn JM, Cawley S, Nemesh J, Wysoker A, et al. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet 2008;40:1166-74.
-
(2008)
Nat Genet
, vol.40
, pp. 1166-1174
-
-
McCarroll, S.A.1
Kuruvilla, F.G.2
Korn, J.M.3
Cawley, S.4
Nemesh, J.5
Wysoker, A.6
-
9
-
-
84861193184
-
Consanguinity in Centre d'Etude du Polymorphisme Humain (CEPH) pedigrees
-
Stevens EL, Heckenberg G, Baugher JD, Roberson ED, Downey TJ, Pevsner J. Consanguinity in Centre d'Etude du Polymorphisme Humain (CEPH) pedigrees. Eur J Hum Genet 2012;20:657-67.
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 657-667
-
-
Stevens, E.L.1
Heckenberg, G.2
Baugher, J.D.3
Roberson, E.D.4
Downey, T.J.5
Pevsner, J.6
-
10
-
-
84869776202
-
Unexpected relationships and inbreeding in HapMap phase III populations
-
Stevens EL, Baugher JD, Shirley MD, Frelin LP, Pevsner J. Unexpected relationships and inbreeding in HapMap phase III populations. PLoS One 2012;7:e49575.
-
(2012)
PLoS One
, vol.7
-
-
Stevens, E.L.1
Baugher, J.D.2
Shirley, M.D.3
Frelin, L.P.4
Pevsner, J.5
-
11
-
-
84863230684
-
Nonhematopoietically derived DNA is shorter than hematopoietically derived DNA in plasma: A transplantation model
-
Zheng YW, Chan KC, Sun H, Jiang P, Su X, Chen EZ, et al. Nonhematopoietically derived DNA is shorter than hematopoietically derived DNA in plasma: a transplantation model. Clin Chem 2011;58:549-58.
-
(2011)
Clin Chem
, vol.58
, pp. 549-558
-
-
Zheng, Y.W.1
Chan, K.C.2
Sun, H.3
Jiang, P.4
Su, X.5
Chen, E.Z.6
-
12
-
-
33750376978
-
Enhanced ascertainment of microchimerism with real-time quantitative polymerase chain reaction amplification of insertion-deletion polymorphisms
-
DOI 10.1111/j.1537-2995.2006.00992.x
-
Lee TH, Chafets DM, Reed W, Wen L, Yang Y, Chen J, et al. Enhanced ascertainment of microchimerism with real-time quantitative polymerase chain reaction amplification of insertion-deletion polymorphisms. Transfusion 2006;46:1870-8. (Pubitemid 44631592)
-
(2006)
Transfusion
, vol.46
, Issue.11
, pp. 1870-1878
-
-
Lee, T.-H.1
Chafets, D.M.2
Reed, W.3
Wen, L.4
Yang, Y.5
Chen, J.6
Utter, G.H.7
Owings, J.T.8
Busch, M.P.9
-
13
-
-
84876523427
-
The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes
-
Montgomery SB, Goode DL, Kvikstad E, Albers CA, Zhang ZD, Mu XJ, et al. The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes. Genome Res 2013;23:749-61.
-
(2013)
Genome Res
, vol.23
, pp. 749-761
-
-
Montgomery, S.B.1
Goode, D.L.2
Kvikstad, E.3
Albers, C.A.4
Zhang, Z.D.5
Mu, X.J.6
-
14
-
-
84879494122
-
Current status in non-invasive prenatal detection of down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasma
-
Langlois S, Brock JA, Genetics C, Wilson RD, Audibert F, Brock JA, et al. Current status in non-invasive prenatal detection of down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasma. J Obstet Gynaecol Can 2013;35:177-81.
-
(2013)
J Obstet Gynaecol Can
, vol.35
, pp. 177-181
-
-
Langlois, S.1
Brock, J.A.2
Genetics, C.3
Wilson, R.D.4
Audibert, F.5
Brock, J.A.6
-
15
-
-
84934434964
-
RHD genotyping from maternal plasma: Guidelines and technical challenges
-
Avent ND. RHD genotyping from maternal plasma: guidelines and technical challenges. Methods Mol Biol 2008;444:185-201.
-
(2008)
Methods Mol Biol
, vol.444
, pp. 185-201
-
-
Avent, N.D.1
-
16
-
-
84865569308
-
Noninvasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis
-
Wright CF, Wei Y, Higgins JP, Sagoo GS. Noninvasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis. BMC Res Notes 2012;5:476.
-
(2012)
BMC Res Notes
, vol.5
, pp. 476
-
-
Wright, C.F.1
Wei, Y.2
Higgins, J.P.3
Sagoo, G.S.4
-
17
-
-
84880035770
-
The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies
-
Canick JA, Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE. The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat Diagn 2013;33:667-74.
-
(2013)
Prenat Diagn
, vol.33
, pp. 667-674
-
-
Canick, J.A.1
Palomaki, G.E.2
Kloza, E.M.3
Lambert-Messerlian, G.M.4
Haddow, J.E.5
-
18
-
-
84891792588
-
Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X
-
Rava RP, Srinivasan A, Sehnert AJ, Bianchi DW. Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X. Clin Chem 2014;60:243-50.
-
(2014)
Clin Chem
, vol.60
, pp. 243-250
-
-
Rava, R.P.1
Srinivasan, A.2
Sehnert, A.J.3
Bianchi, D.W.4
-
19
-
-
84880043573
-
Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma
-
Wang E, Batey A, Struble C, Musci T, Song K, Oliphant A. Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenat Diagn 2013;33:662-6.
-
(2013)
Prenat Diagn
, vol.33
, pp. 662-666
-
-
Wang, E.1
Batey, A.2
Struble, C.3
Musci, T.4
Song, K.5
Oliphant, A.6
-
20
-
-
84878445851
-
Maternal plasma cell-free fetal and maternal DNA at 11-13 weeks' gestation: Relation to fetal and maternal characteristics and pregnancy outcomes
-
Poon LC, Musci T, Song K, Syngelaki A, Nicolaides KH. Maternal plasma cell-free fetal and maternal DNA at 11-13 weeks' gestation: relation to fetal and maternal characteristics and pregnancy outcomes. Fetal Diagn Ther 2013;33:215-23.
-
(2013)
Fetal Diagn Ther
, vol.33
, pp. 215-223
-
-
Poon, L.C.1
Musci, T.2
Song, K.3
Syngelaki, A.4
Nicolaides, K.H.5
-
21
-
-
84871536941
-
Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: Relation to maternal and fetal characteristics
-
Ashoor G, Syngelaki A, Poon LC, Rezende JC, Nicolaides KH. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol 2013;41:26-32.
-
(2013)
Ultrasound Obstet Gynecol
, vol.41
, pp. 26-32
-
-
Ashoor, G.1
Syngelaki, A.2
Poon, L.C.3
Rezende, J.C.4
Nicolaides, K.H.5
-
22
-
-
84880035770
-
The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies
-
Canick JA, Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE. The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat Diagn 2013:1-8.
-
(2013)
Prenat Diagn
, pp. 1-8
-
-
Canick, J.A.1
Palomaki, G.E.2
Kloza, E.M.3
Lambert-Messerlian, G.M.4
Haddow, J.E.5
-
23
-
-
84866386220
-
Evaluation of a novel assay for detection of the fetal marker RASSF1A: Facilitating improved diagnostic reliability of noninvasive prenatal diagnosis
-
White HE, Dent CL, Hall VJ, Crolla JA, Chitty LS. Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis. PLoS One 2012;7:e45073.
-
(2012)
PLoS One
, vol.7
-
-
White, H.E.1
Dent, C.L.2
Hall, V.J.3
Crolla, J.A.4
Chitty, L.S.5
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