-
1
-
-
84938751857
-
Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis
-
25970088
-
Benn P Borrell A Chiu RW: Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn. 2015;35(8):725-34. 25970088 10.1002/pd.4608
-
(2015)
Prenat Diagn
, vol.35
, Issue.8
, pp. 725-734
-
-
Benn, P.1
Borrell, A.2
Chiu, R.W.3
-
2
-
-
85012886753
-
Practice Bulletin No. 163 Summary: Screening for Fetal Aneuploidy
-
27101120
-
Practice Bulletin No. 163 Summary: Screening for Fetal Aneuploidy. Obstet Gynecol. 2016;127(5):979-81. 27101120 10.1097/AOG.0000000000001439
-
(2016)
Obstet Gynecol
, vol.127
, Issue.5
, pp. 979-981
-
-
-
3
-
-
84878831736
-
ACMG position statement on prenatal/preconception expanded carrier screening
-
23619275
-
Grody WW Thompson BH Gregg AR: ACMG position statement on prenatal/preconception expanded carrier screening. Genet Med. 2013;15(6):482-3. 23619275 10.1038/gim.2013.47
-
(2013)
Genet Med
, vol.15
, Issue.6
, pp. 482-483
-
-
Grody, W.W.1
Thompson, B.H.2
Gregg, A.R.3
-
4
-
-
59449102851
-
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases
-
19012303, 3665952
-
Van den Veyver IB Patel A Shaw CA: Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn. 2009;29(1):29-39. 19012303 10.1002/pd.2127 3665952
-
(2009)
Prenat Diagn
, vol.29
, Issue.1
, pp. 29-39
-
-
Van den Veyver, I.B.1
Patel, A.2
Shaw, C.A.3
-
5
-
-
84859124052
-
Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature
-
22467166
-
Breman A Pursley AN Hixson P: Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat Diagn. 2012;32(4):351-61. 22467166 10.1002/pd.3861
-
(2012)
Prenat Diagn
, vol.32
, Issue.4
, pp. 351-361
-
-
Breman, A.1
Pursley, A.N.2
Hixson, P.3
-
6
-
-
84870549609
-
Chromosomal microarray versus karyotyping for prenatal diagnosis
-
23215555, 3549418
-
Wapner RJ Martin CL Levy B: Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012;367(23):2175-84. 23215555 10.1056/NEJMoa1203382 3549418
-
(2012)
N Engl J Med
, vol.367
, Issue.23
, pp. 2175-2184
-
-
Wapner, R.J.1
Martin, C.L.2
Levy, B.3
-
7
-
-
84943279493
-
Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders
-
26253094, pii: a023077.
-
Van den Veyver IB Eng CM: Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders. Cold Spring Harb Perspect Med. 2015;5(10): pii: a023077. 26253094 10.1101/cshperspect.a023077
-
(2015)
Cold Spring Harb Perspect Med
, vol.5
, Issue.10
-
-
Van den Veyver, I.B.1
Eng, C.M.2
-
8
-
-
84901360405
-
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound
-
24476948, 4030780
-
Carss KJ Hillman SC Parthiban V: Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound. Hum Mol Genet. 2014;23(12):3269-77. 24476948 10.1093/hmg/ddu038 4030780
-
(2014)
Hum Mol Genet
, vol.23
, Issue.12
, pp. 3269-3277
-
-
Carss, K.J.1
Hillman, S.C.2
Parthiban, V.3
-
9
-
-
84920878583
-
Prenatal exome sequencing for fetuses with structural abnormalities: the next step
-
25157891
-
Hillman SC Willams D Carss KJ: Prenatal exome sequencing for fetuses with structural abnormalities: the next step. Ultrasound Obstet Gynecol. 2015;45(1):4-9. 25157891 10.1002/uog.14653
-
(2015)
Ultrasound Obstet Gynecol
, vol.45
, Issue.1
, pp. 4-9
-
-
Hillman, S.C.1
Willams, D.2
Carss, K.J.3
-
10
-
-
84870568851
-
Clinical diagnosis by whole-genome sequencing of a prenatal sample
-
23215558, 3579222
-
Talkowski ME Ordulu Z Pillalamarri V: Clinical diagnosis by whole-genome sequencing of a prenatal sample. N Engl J Med. 2012;367(23):2226-32. 23215558 10.1056/NEJMoa1208594 3579222
-
(2012)
N Engl J Med
, vol.367
, Issue.23
, pp. 2226-2232
-
-
Talkowski, M.E.1
Ordulu, Z.2
Pillalamarri, V.3
-
11
-
-
84943362406
-
Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities
-
26275891
-
Drury S Williams H Trump N: Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities. Prenat Diagn. 2015;35(10):1010-7. 26275891 10.1002/pd.4675
-
(2015)
Prenat Diagn
, vol.35
, Issue.10
, pp. 1010-1017
-
-
Drury, S.1
Williams, H.2
Trump, N.3
-
12
-
-
84938415739
-
An exome sequencing strategy to diagnose lethal autosomal recessive disorders
-
24961629, 4205099
-
Ellard S Kivuva E Turnpenny P: An exome sequencing strategy to diagnose lethal autosomal recessive disorders. Eur J Hum Genet. 2015;23(3):401-4. 24961629 10.1038/ejhg.2014.120 4205099
-
(2015)
Eur J Hum Genet
, vol.23
, Issue.3
, pp. 401-404
-
-
Ellard, S.1
Kivuva, E.2
Turnpenny, P.3
-
13
-
-
84943233998
-
Exome sequencing for gene discovery in lethal fetal disorders--harnessing the value of extreme phenotypes
-
25046514
-
Filges I Friedman JM: Exome sequencing for gene discovery in lethal fetal disorders--harnessing the value of extreme phenotypes. Prenat Diagn. 2015;35(10):1005-9. 25046514 10.1002/pd.4464
-
(2015)
Prenat Diagn
, vol.35
, Issue.10
, pp. 1005-1009
-
-
Filges, I.1
Friedman, J.M.2
-
14
-
-
34249680839
-
Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation
-
17467974
-
Stankiewicz P Beaudet AL: Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev. 2007;17(3):182-92. 17467974 10.1016/j.gde.2007.04.009
-
(2007)
Curr Opin Genet Dev
, vol.17
, Issue.3
, pp. 182-192
-
-
Stankiewicz, P.1
Beaudet, A.L.2
-
15
-
-
84918840439
-
Clinical exome sequencing for genetic identification of rare Mendelian disorders
-
25326637, 4278636
-
Lee H Deignan JL Dorrani N: Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014;312(18):1880-7. 25326637 10.1001/jama.2014.14604 4278636
-
(2014)
JAMA
, vol.312
, Issue.18
, pp. 1880-1887
-
-
Lee, H.1
Deignan, J.L.2
Dorrani, N.3
-
16
-
-
84904465224
-
Genome sequencing identifies major causes of severe intellectual disability
-
24896178
-
Gilissen C Hehir-Kwa JY Thung DT: Genome sequencing identifies major causes of severe intellectual disability. Nature. 2014;511(7509):344-7. 24896178 10.1038/nature13394
-
(2014)
Nature
, vol.511
, Issue.7509
, pp. 344-347
-
-
Gilissen, C.1
Hehir-Kwa, J.Y.2
Thung, D.T.3
-
17
-
-
84902173195
-
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project
-
24906018, 4121481
-
Beaulieu CL Majewski J Schwartzentruber J: FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project. Am J Hum Genet. 2014;94(6):809-17. 24906018 10.1016/j.ajhg.2014.05.003 4121481
-
(2014)
Am J Hum Genet
, vol.94
, Issue.6
, pp. 809-817
-
-
Beaulieu, C.L.1
Majewski, J.2
Schwartzentruber, J.3
-
18
-
-
84943262415
-
Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice
-
26275793
-
Westerfield LE Stover SR Mathur VS: Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice. Prenat Diagn. 2015;35(10):1022-9. 26275793 10.1002/pd.4674
-
(2015)
Prenat Diagn
, vol.35
, Issue.10
, pp. 1022-1029
-
-
Westerfield, L.E.1
Stover, S.R.2
Mathur, V.S.3
-
19
-
-
84872871232
-
Recent advances in the prenatal interrogation of the human fetal genome
-
23158400, 4378900
-
Hui L Bianchi DW: Recent advances in the prenatal interrogation of the human fetal genome. Trends Genet. 2013;29(2):84-91. 23158400 10.1016/j.tig.2012.10.013 4378900
-
(2013)
Trends Genet
, vol.29
, Issue.2
, pp. 84-91
-
-
Hui, L.1
Bianchi, D.W.2
-
20
-
-
84859112155
-
Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing
-
22467169
-
McGillivray G Rosenfeld JA McKinlay Gardner RJ: Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing. Prenat Diagn. 2012;32(4):389-95. 22467169 10.1002/pd.3849
-
(2012)
Prenat Diagn
, vol.32
, Issue.4
, pp. 389-395
-
-
McGillivray, G.1
Rosenfeld, J.A.2
McKinlay Gardner, R.J.3
-
21
-
-
84865155513
-
Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent
-
22396320
-
Dondorp W Sikkema-Raddatz B de Die-Smulders C: Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent. Hum Mutat. 2012;33(6):916-22. 22396320 10.1002/humu.22068
-
(2012)
Hum Mutat
, vol.33
, Issue.6
, pp. 916-922
-
-
Dondorp, W.1
Sikkema-Raddatz, B.2
de Die-Smulders, C.3
-
22
-
-
77952032690
-
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
-
20466091, 2869000
-
Miller DT Adam MP Aradhya S: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749-64. 20466091 10.1016/j.ajhg.2010.04.006 2869000
-
(2010)
Am J Hum Genet
, vol.86
, Issue.5
, pp. 749-764
-
-
Miller, D.T.1
Adam, M.P.2
Aradhya, S.3
-
23
-
-
84879099857
-
Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis
-
23512800
-
Hillman SC McMullan DJ Hall G: Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2013;41(6):610-20. 23512800 10.1002/uog.12464
-
(2013)
Ultrasound Obstet Gynecol
, vol.41
, Issue.6
, pp. 610-620
-
-
Hillman, S.C.1
McMullan, D.J.2
Hall, G.3
-
24
-
-
84870567269
-
Karyotype versus microarray testing for genetic abnormalities after stillbirth
-
23215556, 4295117
-
Reddy UM Page GP Saade GR: Karyotype versus microarray testing for genetic abnormalities after stillbirth. N Engl J Med. 2012;367(23):2185-93. 23215556 10.1056/NEJMoa1201569 4295117
-
(2012)
N Engl J Med
, vol.367
, Issue.23
, pp. 2185-2193
-
-
Reddy, U.M.1
Page, G.P.2
Saade, G.R.3
-
25
-
-
84893182999
-
Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis
-
24264715
-
American College of Obstetricians and Gynecologists Committee on Genetics: Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol. 2013;122(6):1374-7. 24264715 10.1097/01.AOG.0000438962.16108.d1
-
(2013)
Obstet Gynecol
, vol.122
, Issue.6
, pp. 1374-1377
-
-
-
26
-
-
84890957864
-
Additional information from chromosomal microarray analysis (CMA) over conventional karyotyping when diagnosing chromosomal abnormalities in miscarriage: a systematic review and meta-analysis
-
23859082
-
Dhillon RK Hillman SC Morris RK: Additional information from chromosomal microarray analysis (CMA) over conventional karyotyping when diagnosing chromosomal abnormalities in miscarriage: a systematic review and meta-analysis. BJOG. 2014;121(1):11-21. 23859082 10.1111/1471-0528.12382
-
(2014)
BJOG
, vol.121
, Issue.1
, pp. 11-21
-
-
Dhillon, R.K.1
Hillman, S.C.2
Morris, R.K.3
-
27
-
-
38449105506
-
ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy
-
18055749
-
American College of Obstetricians and Gynecologists: ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet Gynecol. 2007;110(6):1459-67. 18055749 10.1097/01.AOG.0000291570.63450.44
-
(2007)
Obstet Gynecol
, vol.110
, Issue.6
, pp. 1459-1467
-
-
-
28
-
-
84920848763
-
Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis
-
25042845
-
Akolekar R Beta J Picciarelli G: Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2015;45(1):16-26. 25042845 10.1002/uog.14636
-
(2015)
Ultrasound Obstet Gynecol
, vol.45
, Issue.1
, pp. 16-26
-
-
Akolekar, R.1
Beta, J.2
Picciarelli, G.3
-
29
-
-
84953449783
-
Risk of fetal loss associated with invasive testing following combined first-trimester screening for Down syndrome: a national cohort of 147,987 singleton pregnancies
-
26581188
-
Wulff CB Gerds TA Rode L: Risk of fetal loss associated with invasive testing following combined first-trimester screening for Down syndrome: a national cohort of 147,987 singleton pregnancies. Ultrasound Obstet Gynecol. 2016;47(1):38-44. 26581188 10.1002/uog.15820
-
(2016)
Ultrasound Obstet Gynecol
, vol.47
, Issue.1
, pp. 38-44
-
-
Wulff, C.B.1
Gerds, T.A.2
Rode, L.3
-
30
-
-
84874510427
-
The impact of utilization of early aneuploidy screening on amniocenteses available for training in obstetrics and fetal medicine
-
23354826
-
Rose NC Lagrave D Hafen B: The impact of utilization of early aneuploidy screening on amniocenteses available for training in obstetrics and fetal medicine. Prenat Diagn. 2013;33(3):242-4. 23354826 10.1002/pd.4052
-
(2013)
Prenat Diagn
, vol.33
, Issue.3
, pp. 242-244
-
-
Rose, N.C.1
Lagrave, D.2
Hafen, B.3
-
31
-
-
0032848828
-
Fetal cells in maternal blood: NIFTY clinical trial interim analysis. DM-STAT. NICHD fetal cell study (NIFTY) group
-
10521832
-
Bianchi DW Simpson JL Jackson LG: Fetal cells in maternal blood: NIFTY clinical trial interim analysis. DM-STAT. NICHD fetal cell study (NIFTY) group. Prenat Diagn. 1999;19(10):994-5. 10521832 10.1002/(SICI)1097-0223(199910)19:10<994::AID-PD662>3.0.CO;2-H
-
(1999)
Prenat Diagn
, vol.19
, Issue.10
, pp. 994-995
-
-
Bianchi, D.W.1
Simpson, J.L.2
Jackson, L.G.3
-
32
-
-
0342618532
-
Presence of fetal DNA in maternal plasma and serum
-
9274585
-
Lo YM Corbetta N Chamberlain PF: Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350(9076):485-7. 9274585 10.1016/S0140-6736(97)02174-0
-
(1997)
Lancet
, vol.350
, Issue.9076
, pp. 485-487
-
-
Lo, Y.M.1
Corbetta, N.2
Chamberlain, P.F.3
-
33
-
-
0037046654
-
New strategy for prenatal diagnosis of X-linked disorders
-
12000828
-
Costa JM Benachi A Gautier E: New strategy for prenatal diagnosis of X-linked disorders. N Engl J Med. 2002;346(19):1502. 12000828 10.1056/NEJM200205093461918
-
(2002)
N Engl J Med
, vol.346
, Issue.19
, pp. 1502
-
-
Costa, J.M.1
Benachi, A.2
Gautier, E.3
-
34
-
-
0032506669
-
Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma
-
9845707
-
Lo YM Hjelm NM Fidler C: Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma. N Engl J Med. 1998;339(24):1734-8. 9845707 10.1056/NEJM199812103392402
-
(1998)
N Engl J Med
, vol.339
, Issue.24
, pp. 1734-1738
-
-
Lo, Y.M.1
Hjelm, N.M.2
Fidler, C.3
-
35
-
-
25444479790
-
Noninvasive prenatal diagnosis of fetal Rhesus D: ready for Prime(r) Time
-
16199645
-
Bianchi DW Avent ND Costa JM: Noninvasive prenatal diagnosis of fetal Rhesus D: ready for Prime(r) Time. Obstet Gynecol. 2005;106(4):841-4. 16199645 10.1097/01.AOG.0000179477.59385.93
-
(2005)
Obstet Gynecol
, vol.106
, Issue.4
, pp. 841-844
-
-
Bianchi, D.W.1
Avent, N.D.2
Costa, J.M.3
-
36
-
-
33748787168
-
Diagnostic accuracy of noninvasive fetal Rh genotyping from maternal blood--a meta-analysis
-
17000250
-
Geifman-Holtzman O Grotegut CA Gaughan JP: Diagnostic accuracy of noninvasive fetal Rh genotyping from maternal blood--a meta-analysis. Am J Obstet Gynecol. 2006;195(4):1163-73. 17000250 10.1016/j.ajog.2006.07.033
-
(2006)
Am J Obstet Gynecol
, vol.195
, Issue.4
, pp. 1163-1173
-
-
Geifman-Holtzman, O.1
Grotegut, C.A.2
Gaughan, J.P.3
-
37
-
-
59649114083
-
Noninvasive prenatal diagnosis of fetal blood group phenotypes: current practice and future prospects
-
19085963
-
Daniels G Finning K Martin P: Noninvasive prenatal diagnosis of fetal blood group phenotypes: current practice and future prospects. Prenat Diagn. 2009;29(2):101-7. 19085963 10.1002/pd.2172
-
(2009)
Prenat Diagn
, vol.29
, Issue.2
, pp. 101-107
-
-
Daniels, G.1
Finning, K.2
Martin, P.3
-
38
-
-
84872159213
-
Circulating cell-free fetal DNA for the detection of RHD status and sex using reflex fetal identifiers
-
Jr, 23225162
-
Moise KJ Jr Boring NH O'Shaughnessy R: Circulating cell-free fetal DNA for the detection of RHD status and sex using reflex fetal identifiers. Prenat Diagn. 2013;33(1):95-101. 23225162 10.1002/pd.4018
-
(2013)
Prenat Diagn
, vol.33
, Issue.1
, pp. 95-101
-
-
Moise, K.J.1
Boring, N.H.2
O'Shaughnessy, R.3
-
39
-
-
84873261757
-
Clinical application of midtrimester non-invasive fetal RHD genotyping and identification of RHD variants in a mixed-ethnic population
-
23280558
-
Grande M Ordoñez E Cirigliano V: Clinical application of midtrimester non-invasive fetal RHD genotyping and identification of RHD variants in a mixed-ethnic population. Prenat Diagn. 2013;33(2):173-8. 23280558 10.1002/pd.4035
-
(2013)
Prenat Diagn
, vol.33
, Issue.2
, pp. 173-178
-
-
Grande, M.1
Ordoñez, E.2
Cirigliano, V.3
-
40
-
-
0036797932
-
Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma
-
12378583
-
González-González MC Garcia-Hoyos M Trujillo MJ: Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma. Prenat Diagn. 2002;22(10):946-8. 12378583 10.1002/pd.439
-
(2002)
Prenat Diagn
, vol.22
, Issue.10
, pp. 946-948
-
-
González-González, M.C.1
Garcia-Hoyos, M.2
Trujillo, M.J.3
-
41
-
-
84877625937
-
Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA
-
23408600, 4166694
-
Chitty LS Khalil A Barrett AN: Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. Prenat Diagn. 2013;33(5):416-23. 23408600 10.1002/pd.4066 4166694
-
(2013)
Prenat Diagn
, vol.33
, Issue.5
, pp. 416-423
-
-
Chitty, L.S.1
Khalil, A.2
Barrett, A.N.3
-
42
-
-
84933673322
-
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach
-
25728633, 4657458
-
Chitty LS Mason S Barrett AN: Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach. Prenat Diagn. 2015;35(7):656-62. 25728633 10.1002/pd.4583 4657458
-
(2015)
Prenat Diagn
, vol.35
, Issue.7
, pp. 656-662
-
-
Chitty, L.S.1
Mason, S.2
Barrett, A.N.3
-
43
-
-
84924194553
-
Non-invasive prenatal diagnostic testing for β-thalassaemia using cell-free fetal DNA and next generation sequencing
-
25400264
-
Xiong L Barrett AN Hua R: Non-invasive prenatal diagnostic testing for β-thalassaemia using cell-free fetal DNA and next generation sequencing. Prenat Diagn. 2015;35(3):258-65. 25400264 10.1002/pd.4536
-
(2015)
Prenat Diagn
, vol.35
, Issue.3
, pp. 258-265
-
-
Xiong, L.1
Barrett, A.N.2
Hua, R.3
-
44
-
-
84943348860
-
Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis
-
25708280, 4672687
-
Hill M Twiss P Verhoef TI: Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis. Prenat Diagn. 2015;35(10):950-8. 25708280 10.1002/pd.4585 4672687
-
(2015)
Prenat Diagn
, vol.35
, Issue.10
, pp. 950-958
-
-
Hill, M.1
Twiss, P.2
Verhoef, T.I.3
-
45
-
-
55849124028
-
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
-
18838674, 2562413
-
Fan HC Blumenfeld YJ Chitkara U: Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A. 2008;105(42):16266-71. 18838674 10.1073/pnas.0808319105 2562413
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, Issue.42
, pp. 16266-16271
-
-
Fan, H.C.1
Blumenfeld, Y.J.2
Chitkara, U.3
-
46
-
-
58149490683
-
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
-
19073917, 2600580
-
Chiu RW Chan KC Gao Y: Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci U S A. 2008;105(51):20458-63. 19073917 10.1073/pnas.0810641105 2600580
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, Issue.51
, pp. 20458-20463
-
-
Chiu, R.W.1
Chan, K.C.2
Gao, Y.3
-
47
-
-
78751683468
-
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study
-
21224326
-
Chiu RW Akolekar R Zheng YW: Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ. 2011;342:c7401. 21224326 10.1136/bmj.c7401
-
(2011)
BMJ
, vol.342
-
-
Chiu, R.W.1
Akolekar, R.2
Zheng, Y.W.3
-
48
-
-
80755172331
-
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study
-
22005709
-
Palomaki GE Kloza EM Lambert-Messerlian GM: DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011;13(11):913-20. 22005709 10.1097/GIM.0b013e3182368a0e
-
(2011)
Genet Med
, vol.13
, Issue.11
, pp. 913-920
-
-
Palomaki, G.E.1
Kloza, E.M.2
Lambert-Messerlian, G.M.3
-
49
-
-
84857868297
-
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study
-
22281937, 3938175
-
Palomaki GE Deciu C Kloza EM: DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med. 2012;14(3):296-305. 22281937 10.1038/gim.2011.73 3938175
-
(2012)
Genet Med
, vol.14
, Issue.3
, pp. 296-305
-
-
Palomaki, G.E.1
Deciu, C.2
Kloza, E.M.3
-
50
-
-
84860213983
-
Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing
-
22362253
-
Bianchi DW Platt LD Goldberg JD: Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol. 2012;119(5):890-901. 22362253 10.1097/AOG.0b013e31824fb482
-
(2012)
Obstet Gynecol
, vol.119
, Issue.5
, pp. 890-901
-
-
Bianchi, D.W.1
Platt, L.D.2
Goldberg, J.D.3
-
51
-
-
84877601474
-
Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing
-
23299662
-
Liang D Lv W Wang H: Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing. Prenat Diagn. 2013;33(5):409-15. 23299662 10.1002/pd.4033
-
(2013)
Prenat Diagn
, vol.33
, Issue.5
, pp. 409-415
-
-
Liang, D.1
Lv, W.2
Wang, H.3
-
52
-
-
84880038440
-
Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population
-
23703459
-
Song Y Liu C Qi H: Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population. Prenat Diagn. 2013;33(7):700-6. 23703459 10.1002/pd.4160
-
(2013)
Prenat Diagn
, vol.33
, Issue.7
, pp. 700-706
-
-
Song, Y.1
Liu, C.2
Qi, H.3
-
53
-
-
84878152406
-
Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma
-
23592550
-
Mazloom AR Dzakula Z Oeth P: Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma. Prenat Diagn. 2013;33(6):591-7. 23592550 10.1002/pd.4127
-
(2013)
Prenat Diagn
, vol.33
, Issue.6
, pp. 591-597
-
-
Mazloom, A.R.1
Dzakula, Z.2
Oeth, P.3
-
54
-
-
84895072217
-
Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe
-
24222400
-
Stumm M Entezami M Haug K: Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe. Prenat Diagn. 2014;34(2):185-91. 24222400 10.1002/pd.4278
-
(2014)
Prenat Diagn
, vol.34
, Issue.2
, pp. 185-191
-
-
Stumm, M.1
Entezami, M.2
Haug, K.3
-
55
-
-
84922522575
-
Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA
-
25025943
-
Grati FR Ferreira JC Bajaj K: Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA. Am J Obstet Gynecol. 2014;211(6):711-2. 25025943 10.1016/j.ajog.2014.07.015
-
(2014)
Am J Obstet Gynecol
, vol.211
, Issue.6
, pp. 711-712
-
-
Grati, F.R.1
Ferreira, J.C.2
Bajaj, K.3
-
56
-
-
84896691791
-
DNA sequencing versus standard prenatal aneuploidy screening
-
24571752
-
Bianchi DW Parker RL Wentworth J: DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;370(9):799-808. 24571752 10.1056/NEJMoa1311037
-
(2014)
N Engl J Med
, vol.370
, Issue.9
, pp. 799-808
-
-
Bianchi, D.W.1
Parker, R.L.2
Wentworth, J.3
-
57
-
-
84870695892
-
Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci
-
23108718, 3548605
-
Zimmermann B Hill M Gemelos G: Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn. 2012;32(13):1233-41. 23108718 10.1002/pd.3993 3548605
-
(2012)
Prenat Diagn
, vol.32
, Issue.13
, pp. 1233-1241
-
-
Zimmermann, B.1
Hill, M.2
Gemelos, G.3
-
58
-
-
84859320067
-
Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18
-
22464073
-
Ashoor G Syngelaki A Wagner M: Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012;206(4):322.e1-5. 22464073 10.1016/j.ajog.2012.01.029
-
(2012)
Am J Obstet Gynecol
, vol.206
, Issue.4
, pp. 322.e1-5
-
-
Ashoor, G.1
Syngelaki, A.2
Wagner, M.3
-
59
-
-
84868029481
-
Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population
-
23107079
-
Nicolaides KH Syngelaki A Ashoor G: Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol. 2012;207(5):374.e1-6. 23107079 10.1016/j.ajog.2012.08.033
-
(2012)
Am J Obstet Gynecol
, vol.207
, Issue.5
, pp. 1-6
-
-
Nicolaides, K.H.1
Syngelaki, A.2
Ashoor, G.3
-
60
-
-
84871532946
-
Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method
-
22996646
-
Ashoor G Syngelaki A Wang E: Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method. Ultrasound Obstet Gynecol. 2013;41(1):21-5. 22996646 10.1002/uog.12299
-
(2013)
Ultrasound Obstet Gynecol
, vol.41
, Issue.1
, pp. 21-25
-
-
Ashoor, G.1
Syngelaki, A.2
Wang, E.3
-
61
-
-
84878164024
-
Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y
-
23613152
-
Nicolaides KH Syngelaki A Gil M: Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y. Prenat Diagn. 2013;33(6):575-9. 23613152 10.1002/pd.4103
-
(2013)
Prenat Diagn
, vol.33
, Issue.6
, pp. 575-579
-
-
Nicolaides, K.H.1
Syngelaki, A.2
Gil, M.3
-
62
-
-
84905093469
-
Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort
-
25004354, 4144440
-
Pergament E Cuckle H Zimmermann B: Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol. 2014;124(2 Pt 1):210-8. 25004354 10.1097/AOG.0000000000000363 4144440
-
(2014)
Obstet Gynecol
, vol.124
, Issue.2
, pp. 210-218
-
-
Pergament, E.1
Cuckle, H.2
Zimmermann, B.3
-
63
-
-
84884982181
-
European non-invasive trisomy evaluation (EU-NITE) study: a multicenter prospective cohort study for non-invasive fetal trisomy 21 testing
-
23794121
-
Verweij EJ Jacobsson B van Scheltema PA: European non-invasive trisomy evaluation (EU-NITE) study: a multicenter prospective cohort study for non-invasive fetal trisomy 21 testing. Prenat Diagn. 2013;33(10):996-1001. 23794121 10.1002/pd.4182
-
(2013)
Prenat Diagn
, vol.33
, Issue.10
, pp. 996-1001
-
-
Verweij, E.J.1
Jacobsson, B.2
van Scheltema, P.A.3
-
64
-
-
84896698058
-
Assessment of fetal sex chromosome aneuploidy using directed cell-free DNA analysis
-
24335155
-
Nicolaides KH Musci TJ Struble CA: Assessment of fetal sex chromosome aneuploidy using directed cell-free DNA analysis. Fetal Diagn Ther. 2014;35(1):1-6. 24335155 10.1159/000357198
-
(2014)
Fetal Diagn Ther
, vol.35
, Issue.1
, pp. 1-6
-
-
Nicolaides, K.H.1
Musci, T.J.2
Struble, C.A.3
-
65
-
-
84926492837
-
Cell-free DNA analysis for noninvasive examination of trisomy
-
25830321
-
Norton ME Jacobsson B Swamy GK: Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med. 2015;372(17):1589-97. 25830321 10.1056/NEJMoa1407349
-
(2015)
N Engl J Med
, vol.372
, Issue.17
, pp. 1589-1597
-
-
Norton, M.E.1
Jacobsson, B.2
Swamy, G.K.3
-
66
-
-
84906874410
-
Cell-free DNA analysis for trisomy risk assessment in first-trimester twin pregnancies
-
24247435
-
del Mar Gil M Quezada MS Bregant B: Cell-free DNA analysis for trisomy risk assessment in first-trimester twin pregnancies. Fetal Diagn Ther. 2014;35(3):204-11. 24247435 10.1159/000356495
-
(2014)
Fetal Diagn Ther
, vol.35
, Issue.3
, pp. 204-211
-
-
del Mar Gil, M.1
Quezada, M.S.2
Bregant, B.3
-
67
-
-
84870688045
-
Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors
-
23138752
-
Dan S Wang W Ren J: Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors. Prenat Diagn. 2012;32(13):1225-32. 23138752 10.1002/pd.4002
-
(2012)
Prenat Diagn
, vol.32
, Issue.13
, pp. 1225-1232
-
-
Dan, S.1
Wang, W.2
Ren, J.3
-
68
-
-
84908296065
-
Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing
-
25111587
-
Dar P Curnow KJ Gross SJ: Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol. 2014;211(5):527.e1-527.e17. 25111587 10.1016/j.ajog.2014.08.006
-
(2014)
Am J Obstet Gynecol
, vol.211
, Issue.5
-
-
Dar, P.1
Curnow, K.J.2
Gross, S.J.3
-
69
-
-
84928601078
-
Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies
-
25598039
-
Zhang H Gao Y Jiang F: Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies. Ultrasound Obstet Gynecol. 2015;45(5):530-8. 25598039 10.1002/uog.14792
-
(2015)
Ultrasound Obstet Gynecol
, vol.45
, Issue.5
, pp. 530-538
-
-
Zhang, H.1
Gao, Y.2
Jiang, F.3
-
70
-
-
84928470965
-
Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases
-
25101914
-
Wang J Sahoo T Schonberg S: Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases. Genet Med. 2015;17(3):234-6. 25101914 10.1038/gim.2014.92
-
(2015)
Genet Med
, vol.17
, Issue.3
, pp. 234-236
-
-
Wang, J.1
Sahoo, T.2
Schonberg, S.3
-
71
-
-
84928492137
-
Accurate description of DNA-based noninvasive prenatal screening
-
25830325
-
Cheung SW Patel A Leung TY: Accurate description of DNA-based noninvasive prenatal screening. N Engl J Med. 2015;372(17):1675-7. 25830325 10.1056/NEJMc1412222
-
(2015)
N Engl J Med
, vol.372
, Issue.17
, pp. 1675-1677
-
-
Cheung, S.W.1
Patel, A.2
Leung, T.Y.3
-
72
-
-
84891814405
-
Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road?
-
24255077, 4827766
-
Bianchi DW Wilkins-Haug L: Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road? Clin Chem. 2014;60(1):78-87. 24255077 10.1373/clinchem.2013.202663 4827766
-
(2014)
Clin Chem
, vol.60
, Issue.1
, pp. 78-87
-
-
Bianchi, D.W.1
Wilkins-Haug, L.2
-
73
-
-
84919424427
-
Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test
-
25447960
-
Curnow KJ Wilkins-Haug L Ryan A: Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test. Am J Obstet Gynecol. 2015;212(1):79.e1-9. 25447960 10.1016/j.ajog.2014.10.012
-
(2015)
Am J Obstet Gynecol
, vol.212
, Issue.1
-
-
Curnow, K.J.1
Wilkins-Haug, L.2
Ryan, A.3
-
74
-
-
84905571246
-
Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results
-
24525917
-
Grati FR Malvestiti F Ferreira JC: Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results. Genet Med. 2014;16(8):620-4. 24525917 10.1038/gim.2014.3
-
(2014)
Genet Med
, vol.16
, Issue.8
, pp. 620-624
-
-
Grati, F.R.1
Malvestiti, F.2
Ferreira, J.C.3
-
75
-
-
84879495377
-
Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism
-
23492874
-
Hall AL Drendel HM Verbrugge JL: Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism. Genet Med. 2013;15(9):729-32. 23492874 10.1038/gim.2013.26
-
(2013)
Genet Med
, vol.15
, Issue.9
, pp. 729-732
-
-
Hall, A.L.1
Drendel, H.M.2
Verbrugge, J.L.3
-
76
-
-
84873257075
-
Fetal aneuploidy screening by maternal plasma DNA sequencing: 'false positive' due to confined placental mosaicism
-
23192749
-
Choi H Lau TK Jiang FM: Fetal aneuploidy screening by maternal plasma DNA sequencing: 'false positive' due to confined placental mosaicism. Prenat Diagn. 2013;33(2):198-200. 23192749 10.1002/pd.4024
-
(2013)
Prenat Diagn
, vol.33
, Issue.2
, pp. 198-200
-
-
Choi, H.1
Lau, T.K.2
Jiang, F.M.3
-
77
-
-
84894316199
-
Review: cell-free fetal DNA in the maternal circulation as an indication of placental health and disease
-
24388429, 4886648
-
Taglauer ES Wilkins-Haug L Bianchi DW: Review: cell-free fetal DNA in the maternal circulation as an indication of placental health and disease. Placenta. 2014;35(Suppl):S64-8. 24388429 10.1016/j.placenta.2013.11.014 4886648
-
(2014)
Placenta
, vol.35
, pp. S64-S68
-
-
Taglauer, E.S.1
Wilkins-Haug, L.2
Bianchi, D.W.3
-
79
-
-
84922478203
-
Fetal sex chromosome testing by maternal plasma DNA sequencing: clinical laboratory experience and biology
-
25568992
-
Bianchi DW Parsa S Bhatt S: Fetal sex chromosome testing by maternal plasma DNA sequencing: clinical laboratory experience and biology. Obstet Gynecol. 2015;125(2):375-82. 25568992 10.1097/AOG.0000000000000637
-
(2015)
Obstet Gynecol
, vol.125
, Issue.2
, pp. 375-382
-
-
Bianchi, D.W.1
Parsa, S.2
Bhatt, S.3
-
80
-
-
84924256744
-
Circulating cell free DNA testing: are some test failures informative?
-
25449554
-
Palomaki GE Kloza EM Lambert-Messerlian GM: Circulating cell free DNA testing: are some test failures informative? Prenat Diagn. 2015;35(3):289-93. 25449554 10.1002/pd.4541
-
(2015)
Prenat Diagn
, vol.35
, Issue.3
, pp. 289-293
-
-
Palomaki, G.E.1
Kloza, E.M.2
Lambert-Messerlian, G.M.3
-
81
-
-
84891792588
-
Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X
-
24046201
-
Rava RP Srinivasan A Sehnert AJ: Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X. Clin Chem. 2014;60(1):243-50. 24046201 10.1373/clinchem.2013.207951
-
(2014)
Clin Chem
, vol.60
, Issue.1
, pp. 243-250
-
-
Rava, R.P.1
Srinivasan, A.2
Sehnert, A.J.3
-
82
-
-
84880035770
-
The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies
-
23592541
-
Canick JA Palomaki GE Kloza EM: The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat Diagn. 2013;33(7):667-74. 23592541 10.1002/pd.4126
-
(2013)
Prenat Diagn
, vol.33
, Issue.7
, pp. 667-674
-
-
Canick, J.A.1
Palomaki, G.E.2
Kloza, E.M.3
-
83
-
-
84871536941
-
Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics
-
23108725
-
Ashoor G Syngelaki A Poon LC: Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol. 2013;41(1):26-32. 23108725 10.1002/uog.12331
-
(2013)
Ultrasound Obstet Gynecol
, vol.41
, Issue.1
, pp. 26-32
-
-
Ashoor, G.1
Syngelaki, A.2
Poon, L.C.3
-
84
-
-
84878159751
-
Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease
-
23559449
-
Osborne CM Hardisty E Devers P: Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease. Prenat Diagn. 2013;33(6):609-11. 23559449 10.1002/pd.4100
-
(2013)
Prenat Diagn
, vol.33
, Issue.6
, pp. 609-611
-
-
Osborne, C.M.1
Hardisty, E.2
Devers, P.3
-
85
-
-
84937459187
-
Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies
-
26168314
-
Bianchi DW Chudova D Sehnert AJ: Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies. JAMA. 2015;314(2):162-9. 26168314 10.1001/jama.2015.7120
-
(2015)
JAMA
, vol.314
, Issue.2
, pp. 162-169
-
-
Bianchi, D.W.1
Chudova, D.2
Sehnert, A.J.3
-
86
-
-
84959871295
-
Follow-up of multiple aneuploidies and single monosomies detected by noninvasive prenatal testing: implications for management and counseling
-
26785403
-
Snyder HL Curnow KJ Bhatt S: Follow-up of multiple aneuploidies and single monosomies detected by noninvasive prenatal testing: implications for management and counseling. Prenat Diagn. 2016;36(3):203-9. 26785403 10.1002/pd.4778
-
(2016)
Prenat Diagn
, vol.36
, Issue.3
, pp. 203-209
-
-
Snyder, H.L.1
Curnow, K.J.2
Bhatt, S.3
-
87
-
-
84907717938
-
Non-invasive prenatal chromosomal aneuploidy testing--clinical experience: 100,000 clinical samples
-
25289665, 4188614
-
McCullough RM Almasri EA Guan X: Non-invasive prenatal chromosomal aneuploidy testing--clinical experience: 100,000 clinical samples. PLoS One. 2014;9(10):e109173. 25289665 10.1371/journal.pone.0109173 4188614
-
(2014)
PLoS One
, vol.9
, Issue.10
-
-
McCullough, R.M.1
Almasri, E.A.2
Guan, X.3
-
88
-
-
80955166920
-
Noninvasive prenatal diagnosis of a fetal microdeletion syndrome
-
22070496, 4308687
-
Peters D Chu T Yatsenko SA: Noninvasive prenatal diagnosis of a fetal microdeletion syndrome. N Engl J Med. 2011;365(19):1847-8. 22070496 10.1056/NEJMc1106975 4308687
-
(2011)
N Engl J Med
, vol.365
, Issue.19
, pp. 1847-1848
-
-
Peters, D.1
Chu, T.2
Yatsenko, S.A.3
-
89
-
-
84863574483
-
Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma
-
22563040
-
Jensen TJ Dzakula Z Deciu C: Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma. Clin Chem. 2012;58(7):1148-51. 22563040 10.1373/clinchem.2011.180794
-
(2012)
Clin Chem
, vol.58
, Issue.7
, pp. 1148-1151
-
-
Jensen, T.J.1
Dzakula, Z.2
Deciu, C.3
-
90
-
-
84878135436
-
A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing
-
23592436
-
Chen S Lau TK Zhang C: A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing. Prenat Diagn. 2013;33(6):584-90. 23592436 10.1002/pd.4110
-
(2013)
Prenat Diagn
, vol.33
, Issue.6
, pp. 584-590
-
-
Chen, S.1
Lau, T.K.2
Zhang, C.3
-
91
-
-
84873711791
-
Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma
-
23313373, 3567270
-
Srinivasan A Bianchi DW Huang H: Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am J Hum Genet. 2013;92(2):167-76. 23313373 10.1016/j.ajhg.2012.12.006 3567270
-
(2013)
Am J Hum Genet
, vol.92
, Issue.2
, pp. 167-176
-
-
Srinivasan, A.1
Bianchi, D.W.2
Huang, H.3
-
92
-
-
84876269433
-
Noninvasive prenatal molecular karyotyping from maternal plasma
-
23613765, 3629174
-
Yu SC Jiang P Choy KW: Noninvasive prenatal molecular karyotyping from maternal plasma. PLoS One. 2013;8(4):e60968. 23613765 10.1371/journal.pone.0060968 3629174
-
(2013)
PLoS One
, vol.8
, Issue.4
, pp. e60968
-
-
Yu, S.C.1
Jiang, P.2
Choy, K.W.3
-
93
-
-
84900427521
-
Noninvasive prenatal testing for microdeletion syndromes and expanded trisomies: proceed with caution
-
24785862
-
Vora NL O'Brien BM: Noninvasive prenatal testing for microdeletion syndromes and expanded trisomies: proceed with caution. Obstet Gynecol. 2014;123(5):1097-9. 24785862 10.1097/AOG.0000000000000237
-
(2014)
Obstet Gynecol
, vol.123
, Issue.5
, pp. 1097-1099
-
-
Vora, N.L.1
O'Brien, B.M.2
-
94
-
-
84906889566
-
Noninvasive prenatal screening by next-generation sequencing
-
24849140
-
Gregg AR Van den Veyver IB Gross SJ: Noninvasive prenatal screening by next-generation sequencing. Annu Rev Genomics Hum Genet. 2014;15:327-47. 24849140 10.1146/annurev-genom-090413-025341
-
(2014)
Annu Rev Genomics Hum Genet
, vol.15
, pp. 327-347
-
-
Gregg, A.R.1
Van den Veyver, I.B.2
Gross, S.J.3
-
95
-
-
84937968977
-
Noninvasive prenatal testing for 22q11.2 deletion syndrome: deeper sequencing increases the positive predictive value
-
25986033
-
Gross SJ Ryan A Benn P: Noninvasive prenatal testing for 22q11.2 deletion syndrome: deeper sequencing increases the positive predictive value. Am J Obstet Gynecol. 2015;213(2):254-5. 25986033 10.1016/j.ajog.2015.05.028
-
(2015)
Am J Obstet Gynecol
, vol.213
, Issue.2
, pp. 254-255
-
-
Gross, S.J.1
Ryan, A.2
Benn, P.3
-
96
-
-
84924766673
-
Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes
-
25479548
-
Wapner RJ Babiarz JE Levy B: Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes. Am J Obstet Gynecol. 2015;212(3):332.e1-9. 25479548 10.1016/j.ajog.2014.11.041
-
(2015)
Am J Obstet Gynecol
, vol.212
, Issue.3
-
-
Wapner, R.J.1
Babiarz, J.E.2
Levy, B.3
-
97
-
-
84945119197
-
Current Status of Testing for Microdeletion Syndromes and Rare Autosomal Trisomies Using Cell-Free DNA Technology
-
26444108
-
Yaron Y Jani J Schmid M: Current Status of Testing for Microdeletion Syndromes and Rare Autosomal Trisomies Using Cell-Free DNA Technology. Obstet Gynecol. 2015;126(5):1095-9. 26444108 10.1097/AOG.0000000000001091
-
(2015)
Obstet Gynecol
, vol.126
, Issue.5
, pp. 1095-1099
-
-
Yaron, Y.1
Jani, J.2
Schmid, M.3
-
98
-
-
84943267089
-
Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing
-
26088833, 5034801
-
Helgeson J Wardrop J Boomer T: Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing. Prenat Diagn. 2015;35(10):999-1004. 26088833 10.1002/pd.4640 5034801
-
(2015)
Prenat Diagn
, vol.35
, Issue.10
, pp. 999-1004
-
-
Helgeson, J.1
Wardrop, J.2
Boomer, T.3
-
99
-
-
84960420622
-
Posttest risk calculation following positive noninvasive prenatal screening using cell-free DNA in maternal plasma
-
26772793
-
Benn P: Posttest risk calculation following positive noninvasive prenatal screening using cell-free DNA in maternal plasma. Am J Obstet Gynecol. 2016;214(6):676.e1-7. 26772793 10.1016/j.ajog.2016.01.003
-
(2016)
Am J Obstet Gynecol
, vol.214
, Issue.6
-
-
Benn, P.1
-
100
-
-
84925707774
-
Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma
-
25710461
-
Zhao C Tynan J Ehrich M: Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma. Clin Chem. 2015;61(4):608-16. 25710461 10.1373/clinchem.2014.233312
-
(2015)
Clin Chem
, vol.61
, Issue.4
, pp. 608-616
-
-
Zhao, C.1
Tynan, J.2
Ehrich, M.3
-
101
-
-
84961857091
-
Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants
-
26899906
-
Lefkowitz RB Tynan JA Liu T: Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants. Am J Obstet Gynecol. 2016;215(2):227.e1-227.e16. 26899906 10.1016/j.ajog.2016.02.030
-
(2016)
Am J Obstet Gynecol
, vol.215
, Issue.2
-
-
Lefkowitz, R.B.1
Tynan, J.A.2
Liu, T.3
-
102
-
-
84937712692
-
Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up
-
25569438, 4496325
-
Yatsenko SA Peters DG Saller DN: Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up. Genet Med. 2015;17(10):836-8. 25569438 10.1038/gim.2014.197 4496325
-
(2015)
Genet Med
, vol.17
, Issue.10
, pp. 836-838
-
-
Yatsenko, S.A.1
Peters, D.G.2
Saller, D.N.3
-
103
-
-
84959267420
-
Expanding noninvasive prenatal testing to include microdeletions and segmental aneuploidy: cause for concern?
-
26795592
-
Sahoo T Hovanes K Strecker MN: Expanding noninvasive prenatal testing to include microdeletions and segmental aneuploidy: cause for concern? Genet Med. 2016;18(3):275-6. 26795592 10.1038/gim.2015.196
-
(2016)
Genet Med
, vol.18
, Issue.3
, pp. 275-276
-
-
Sahoo, T.1
Hovanes, K.2
Strecker, M.N.3
-
104
-
-
84873056824
-
NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy
-
23179172
-
Wilson KL Czerwinski JL Hoskovec JM: NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy. J Genet Couns. 2013;22(1):4-15. 23179172 10.1007/s10897-012-9545-3
-
(2013)
J Genet Couns
, vol.22
, Issue.1
, pp. 4-15
-
-
Wilson, K.L.1
Czerwinski, J.L.2
Hoskovec, J.M.3
-
105
-
-
84877253478
-
ACMG statement on noninvasive prenatal screening for fetal aneuploidy
-
23558255
-
Gregg AR Gross SJ Best RG: ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med. 2013;15(5):395-8. 23558255 10.1038/gim.2013.29
-
(2013)
Genet Med
, vol.15
, Issue.5
, pp. 395-398
-
-
Gregg, A.R.1
Gross, S.J.2
Best, R.G.3
-
106
-
-
85044697273
-
Committee Opinion No. 640: Cell-Free DNA Screening For Fetal Aneuploidy
-
26287791
-
Committee Opinion No. 640: Cell-Free DNA Screening For Fetal Aneuploidy. Obstet Gynecol. 2015;126(3):e31-7. 26287791 10.1097/AOG.0000000000001051
-
(2015)
Obstet Gynecol
, vol.126
, Issue.3
-
-
-
107
-
-
84944352609
-
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening
-
25782669, 4613463
-
Dondorp W de Wert G Bombard Y: Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet. 2015;23(11):1438-50. 25782669 10.1038/ejhg.2015.57 4613463
-
(2015)
Eur J Hum Genet
, vol.23
, Issue.11
, pp. 1438-1450
-
-
Dondorp, W.1
de Wert, G.2
Bombard, Y.3
-
108
-
-
84989907437
-
Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics
-
27467454
-
Gregg AR Skotko BG Benkendorf JL: Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016;18(10):1056-65. 27467454 10.1038/gim.2016.97
-
(2016)
Genet Med
, vol.18
, Issue.10
, pp. 1056-1065
-
-
Gregg, A.R.1
Skotko, B.G.2
Benkendorf, J.L.3
-
109
-
-
84874531862
-
Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center
-
23354915
-
Alamillo CM Krantz D Evans M: Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center. Prenat Diagn. 2013;33(3):251-6. 23354915 10.1002/pd.4054
-
(2013)
Prenat Diagn
, vol.33
, Issue.3
, pp. 251-256
-
-
Alamillo, C.M.1
Krantz, D.2
Evans, M.3
-
110
-
-
84925581764
-
Chromosome abnormalities detected by current prenatal screening and noninvasive prenatal testing
-
25437727
-
Norton ME Jelliffe-Pawlowski LL Currier RJ: Chromosome abnormalities detected by current prenatal screening and noninvasive prenatal testing. Obstet Gynecol. 2014;124(5):979-86. 25437727 10.1097/AOG.0000000000000452
-
(2014)
Obstet Gynecol
, vol.124
, Issue.5
, pp. 979-986
-
-
Norton, M.E.1
Jelliffe-Pawlowski, L.L.2
Currier, R.J.3
-
111
-
-
84969513607
-
Cell-free DNA vs sequential screening for the detection of fetal chromosomal abnormalities
-
27091082
-
Benn P Norwitz ER Pergament E: Cell-free DNA vs sequential screening for the detection of fetal chromosomal abnormalities. Am J Obstet Gynecol. 2016;215(2):252-3. 27091082 10.1016/j.ajog.2016.04.012
-
(2016)
Am J Obstet Gynecol
, vol.215
, Issue.2
, pp. 252-253
-
-
Benn, P.1
Norwitz, E.R.2
Pergament, E.3
-
112
-
-
22244465516
-
Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment
-
16005334
-
Caine A Maltby AE Parkin CA: Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment. Lancet. 2005;366(9480):123-8. 16005334 10.1016/S0140-6736(05)66790-6
-
(2005)
Lancet
, vol.366
, Issue.9480
, pp. 123-128
-
-
Caine, A.1
Maltby, A.E.2
Parkin, C.A.3
-
113
-
-
84897599061
-
Potential diagnostic consequences of applying non-invasive prenatal testing: population-based study from a country with existing first-trimester screening
-
24375770
-
Petersen OB Vogel I Ekelund C: Potential diagnostic consequences of applying non-invasive prenatal testing: population-based study from a country with existing first-trimester screening. Ultrasound Obstet Gynecol. 2014;43(3):265-71. 24375770 10.1002/uog.13270
-
(2014)
Ultrasound Obstet Gynecol
, vol.43
, Issue.3
, pp. 265-271
-
-
Petersen, O.B.1
Vogel, I.2
Ekelund, C.3
-
114
-
-
84937977668
-
Clinical experience and follow-up with large-scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing
-
25940612
-
Singh ON: Clinical experience and follow-up with large-scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol. 2015;213(2):253. 25940612 10.1016/j.ajog.2015.04.039
-
(2015)
Am J Obstet Gynecol
, vol.213
, Issue.2
, pp. 253
-
-
Singh, O.N.1
-
115
-
-
84937974018
-
Reply: To PMID 25111587
-
25940611
-
Dar P Gross SJ Benn P: Reply: To PMID 25111587. Am J Obstet Gynecol. 2015;213(2):253-4. 25940611 10.1016/j.ajog.2015.04.040
-
(2015)
Am J Obstet Gynecol
, vol.213
, Issue.2
, pp. 253-254
-
-
Dar, P.1
Gross, S.J.2
Benn, P.3
-
116
-
-
77958157320
-
ACOG Committee Opinion No. 469: Carrier screening for fragile X syndrome
-
20859177
-
American College of Obstetricians and Gynecologists Committee on Genetics: ACOG Committee Opinion No. 469: Carrier screening for fragile X syndrome. Obstet Gynecol. 2010;116(4):1008-10. 20859177 10.1097/AOG.0b013e3181fae884
-
(2010)
Obstet Gynecol
, vol.116
, Issue.4
, pp. 1008-1010
-
-
-
117
-
-
79953212970
-
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis
-
21422883
-
American College of Obstetricians and Gynecologists Committee on Genetics: ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. Obstet Gynecol. 2011;117(4):1028-31. 21422883 10.1097/AOG.0b013e31821922c2
-
(2011)
Obstet Gynecol
, vol.117
, Issue.4
, pp. 1028-1031
-
-
-
118
-
-
57449107362
-
Carrier screening for spinal muscular atrophy
-
18941424, 3110347
-
Prior TW Professional Practice and Guidelines Committee: Carrier screening for spinal muscular atrophy. Genet Med. 2008;10(11):840-2. 18941424 10.1097/GIM.0b013e318188d069 3110347
-
(2008)
Genet Med
, vol.10
, Issue.11
, pp. 840-842
-
-
Prior, T.W.1
-
119
-
-
38149050660
-
Carrier screening in individuals of Ashkenazi Jewish descent
-
18197057, 3110977
-
Gross SJ Pletcher BA Monaghan KG: Carrier screening in individuals of Ashkenazi Jewish descent. Genet Med. 2008;10(1):54-6. 18197057 10.1097/GIM.0b013e31815f247c 3110977
-
(2008)
Genet Med
, vol.10
, Issue.1
, pp. 54-56
-
-
Gross, S.J.1
Pletcher, B.A.2
Monaghan, K.G.3
-
120
-
-
84923584486
-
Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine
-
25730230
-
Edwards JG Feldman G Goldberg J: Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine. Obstet Gynecol. 2015;125(3):653-62. 25730230 10.1097/AOG.0000000000000666
-
(2015)
Obstet Gynecol
, vol.125
, Issue.3
, pp. 653-662
-
-
Edwards, J.G.1
Feldman, G.2
Goldberg, J.3
-
121
-
-
84921452750
-
Current controversies in prenatal diagnosis 4: pre-conception expanded carrier screening should replace all current prenatal screening for specific single gene disorders
-
25395388
-
Langlois S Benn P Wilkins-Haug L: Current controversies in prenatal diagnosis 4: pre-conception expanded carrier screening should replace all current prenatal screening for specific single gene disorders. Prenat Diagn. 2015;35(1):23-8. 25395388 10.1002/pd.4532
-
(2015)
Prenat Diagn
, vol.35
, Issue.1
, pp. 23-28
-
-
Langlois, S.1
Benn, P.2
Wilkins-Haug, L.3
-
122
-
-
84875178813
-
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals
-
22975760, 3908551
-
Lazarin GA Haque IS Nazareth S: An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. Genet Med. 2013;15(3):178-86. 22975760 10.1038/gim.2012.114 3908551
-
(2013)
Genet Med
, vol.15
, Issue.3
, pp. 178-186
-
-
Lazarin, G.A.1
Haque, I.S.2
Nazareth, S.3
-
123
-
-
78651393550
-
Carrier testing for severe childhood recessive diseases by next-generation sequencing
-
21228398, 3740116
-
Bell CJ Dinwiddie DL Miller NA: Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med. 2011;3(65):65ra4. 21228398 10.1126/scitranslmed.3001756 3740116
-
(2011)
Sci Transl Med
, vol.3
, Issue.65
-
-
Bell, C.J.1
Dinwiddie, D.L.2
Miller, N.A.3
-
124
-
-
84945910426
-
Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology
-
26354092
-
Martin J Asan Yi Y: Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology. Fertil Steril. 2015;104(5):1286-93. 26354092 10.1016/j.fertnstert.2015.07.1166
-
(2015)
Fertil Steril
, vol.104
, Issue.5
, pp. 1286-1293
-
-
Martin, J.1
Asan, Y.2
-
125
-
-
84960330499
-
Current controversies in traditional and expanded carrier screening
-
26844860
-
Lazarin GA Goldberg JD: Current controversies in traditional and expanded carrier screening. Curr Opin Obstet Gynecol. 2016;28(2):136-41. 26844860 10.1097/GCO.0000000000000256
-
(2016)
Curr Opin Obstet Gynecol
, vol.28
, Issue.2
, pp. 136-141
-
-
Lazarin, G.A.1
Goldberg, J.D.2
-
126
-
-
79952228519
-
Genetic assessment following increased nuchal translucency and normal karyotype
-
21321969
-
Pergament E Alamillo C Sak K: Genetic assessment following increased nuchal translucency and normal karyotype. Prenat Diagn. 2011;31(3):307-10. 21321969 10.1002/pd.2718
-
(2011)
Prenat Diagn
, vol.31
, Issue.3
, pp. 307-310
-
-
Pergament, E.1
Alamillo, C.2
Sak, K.3
-
127
-
-
84859752404
-
Increased nuchal translucency in the presence of normal chromosomes: what's next?
-
22277886
-
Alamillo CM Fiddler M Pergament E: Increased nuchal translucency in the presence of normal chromosomes: what's next? Curr Opin Obstet Gynecol. 2012;24(2):102-8. 22277886 10.1097/GCO.0b013e3283505b25
-
(2012)
Curr Opin Obstet Gynecol
, vol.24
, Issue.2
, pp. 102-108
-
-
Alamillo, C.M.1
Fiddler, M.2
Pergament, E.3
-
128
-
-
84918771753
-
Molecular findings among patients referred for clinical whole-exome sequencing
-
25326635, 4326249
-
Yang Y Muzny DM Xia F: Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014;312(18):1870-9. 25326635 10.1001/jama.2014.14601 4326249
-
(2014)
JAMA
, vol.312
, Issue.18
, pp. 1870-1879
-
-
Yang, Y.1
Muzny, D.M.2
Xia, F.3
-
129
-
-
84885785987
-
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
-
24088041, 4211433
-
Yang Y Muzny DM Reid JG: Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013;369(16):1502-11. 24088041 10.1056/NEJMoa1306555 4211433
-
(2013)
N Engl J Med
, vol.369
, Issue.16
, pp. 1502-1511
-
-
Yang, Y.1
Muzny, D.M.2
Reid, J.G.3
-
130
-
-
84929649670
-
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita
-
26004201, 4457946
-
Ravenscroft G Nolent F Rajagopalan S: Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita. Am J Hum Genet. 2015;96(6):955-61. 26004201 10.1016/j.ajhg.2015.04.014 4457946
-
(2015)
Am J Hum Genet
, vol.96
, Issue.6
, pp. 955-961
-
-
Ravenscroft, G.1
Nolent, F.2
Rajagopalan, S.3
-
131
-
-
84920720732
-
CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein
-
25557780, 4289687
-
Slavotinek A Kaylor J Pierce H: CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein. Am J Hum Genet. 2015;96(1):162-9. 25557780 10.1016/j.ajhg.2014.11.013 4289687
-
(2015)
Am J Hum Genet
, vol.96
, Issue.1
, pp. 162-169
-
-
Slavotinek, A.1
Kaylor, J.2
Pierce, H.3
-
132
-
-
84952720047
-
Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis
-
26365340, 4596890
-
Mejlachowicz D Nolent F Maluenda J: Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis. Am J Hum Genet. 2015;97(4):616-20. 26365340 10.1016/j.ajhg.2015.08.010 4596890
-
(2015)
Am J Hum Genet
, vol.97
, Issue.4
, pp. 616-620
-
-
Mejlachowicz, D.1
Nolent, F.2
Maluenda, J.3
-
133
-
-
84938294241
-
Rare ACTG1 variants in fetal microlissencephaly
-
26188271
-
Poirier K Martinovic J Laquerrière A: Rare ACTG1 variants in fetal microlissencephaly. Eur J Med Genet. 2015;58(8):416-8. 26188271 10.1016/j.ejmg.2015.06.006
-
(2015)
Eur J Med Genet
, vol.58
, Issue.8
, pp. 416-418
-
-
Poirier, K.1
Martinovic, J.2
Laquerrière, A.3
-
134
-
-
84907597145
-
Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype
-
24128419
-
Filges I Nosova E Bruder E: Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype. Clin Genet. 2014;86(3):220-8. 24128419 10.1111/cge.12301
-
(2014)
Clin Genet
, vol.86
, Issue.3
, pp. 220-228
-
-
Filges, I.1
Nosova, E.2
Bruder, E.3
-
135
-
-
84945477018
-
Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies
-
26147564
-
Alamillo CL Powis Z Farwell K: Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies. Prenat Diagn. 2015;35(11):1073-8. 26147564 10.1002/pd.4648
-
(2015)
Prenat Diagn
, vol.35
, Issue.11
, pp. 1073-1078
-
-
Alamillo, C.L.1
Powis, Z.2
Farwell, K.3
-
136
-
-
84863954202
-
Non-invasive prenatal measurement of the fetal genome
-
22763444, 3561905
-
Fan HC Gu W Wang J: Non-invasive prenatal measurement of the fetal genome. Nature. 2012;487(7407):320-4. 22763444 10.1038/nature11251 3561905
-
(2012)
Nature
, vol.487
, Issue.7407
, pp. 320-324
-
-
Fan, H.C.1
Gu, W.2
Wang, J.3
-
137
-
-
84862118837
-
Noninvasive whole-genome sequencing of a human fetus
-
22674554, 3379884
-
Kitzman JO Snyder MW Ventura M: Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med. 2012;4(137):137ra76. 22674554 10.1126/scitranslmed.3004323 3379884
-
(2012)
Sci Transl Med
, vol.4
, Issue.137
-
-
Kitzman, J.O.1
Snyder, M.W.2
Ventura, M.3
-
138
-
-
84868370281
-
Circulating trophoblastic cells provide genetic diagnosis in 63 fetuses at risk for cystic fibrosis or spinal muscular atrophy
-
23000084
-
Mouawia H Saker A Jais JP: Circulating trophoblastic cells provide genetic diagnosis in 63 fetuses at risk for cystic fibrosis or spinal muscular atrophy. Reprod Biomed Online. 2012;25(5):508-20. 23000084 10.1016/j.rbmo.2012.08.002
-
(2012)
Reprod Biomed Online
, vol.25
, Issue.5
, pp. 508-520
-
-
Mouawia, H.1
Saker, A.2
Jais, J.P.3
-
139
-
-
84906968062
-
Characterization of fetal cells from the maternal circulation by microarray gene expression analysis--could the extravillous trophoblasts be a target for future cell-based non-invasive prenatal diagnosis?
-
24217417
-
Hatt L Brinch M Singh R: Characterization of fetal cells from the maternal circulation by microarray gene expression analysis--could the extravillous trophoblasts be a target for future cell-based non-invasive prenatal diagnosis? Fetal Diagn Ther. 2014;35(3):218-27. 24217417 10.1159/000356073
-
(2014)
Fetal Diagn Ther
, vol.35
, Issue.3
, pp. 218-227
-
-
Hatt, L.1
Brinch, M.2
Singh, R.3
-
140
-
-
84964716026
-
Using fetal cells for prenatal diagnosis: History and recent progress
-
27133782
-
Beaudet AL: Using fetal cells for prenatal diagnosis: History and recent progress. Am J Med Genet C Semin Med Genet. 2016;172(2):123-7. 27133782 10.1002/ajmg.c.31487
-
(2016)
Am J Med Genet C Semin Med Genet
, vol.172
, Issue.2
, pp. 123-127
-
-
Beaudet, A.L.1
-
141
-
-
84857506553
-
Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays
-
22470934
-
Bi W Breman A Shaw CA: Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays. Prenat Diagn. 2012;32(1):10-20. 22470934 10.1002/pd.2855
-
(2012)
Prenat Diagn
, vol.32
, Issue.1
, pp. 10-20
-
-
Bi, W.1
Breman, A.2
Shaw, C.A.3
-
142
-
-
84909950761
-
A new marker set that identifies fetal cells in maternal circulation with high specificity
-
24912661
-
Hatt L Brinch M Singh R: A new marker set that identifies fetal cells in maternal circulation with high specificity. Prenat Diagn. 2014;34(11):1066-72. 24912661 10.1002/pd.4429
-
(2014)
Prenat Diagn
, vol.34
, Issue.11
, pp. 1066-1072
-
-
Hatt, L.1
Brinch, M.2
Singh, R.3
-
143
-
-
84906961204
-
Fetal gender and several cytokines are associated with the number of fetal cells in maternal blood--an observational study
-
25188498, 4154776
-
Schlütter JM Kirkegaard I Petersen OB: Fetal gender and several cytokines are associated with the number of fetal cells in maternal blood--an observational study. PLoS One. 2014;9(9):e106934. 25188498 10.1371/journal.pone.0106934 4154776
-
(2014)
PLoS One
, vol.9
, Issue.9
-
-
Schlütter, J.M.1
Kirkegaard, I.2
Petersen, O.B.3
-
144
-
-
84901693829
-
Validation of automatic scanning of microscope slides in recovering rare cellular events: application for detection of fetal cells in maternal blood
-
24578229
-
Emad A Bouchard EF Lamoureux J: Validation of automatic scanning of microscope slides in recovering rare cellular events: application for detection of fetal cells in maternal blood. Prenat Diagn. 2014;34(6):538-46. 24578229 10.1002/pd.4345
-
(2014)
Prenat Diagn
, vol.34
, Issue.6
, pp. 538-546
-
-
Emad, A.1
Bouchard, E.F.2
Lamoureux, J.3
-
145
-
-
84906944831
-
Evaluation of the impact of density gradient centrifugation on fetal cell loss during enrichment from maternal peripheral blood
-
24752776
-
Emad A Drouin R: Evaluation of the impact of density gradient centrifugation on fetal cell loss during enrichment from maternal peripheral blood. Prenat Diagn. 2014;34(9):878-85. 24752776 10.1002/pd.4387
-
(2014)
Prenat Diagn
, vol.34
, Issue.9
, pp. 878-885
-
-
Emad, A.1
Drouin, R.2
|