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JAMA, ISSN 0098-7484, 11/2014, Volume 312, Issue 18, pp. 1870 - 1879
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 10/2013, Volume 369, Issue 16, pp. 1502 - 1511
Journal Article
Journal Article
Journal Article
by Hoed, M. den and Eijgelsheim, M and Esko, T and Brundel, B.J and Peal, D.S and Evans, D.M and Nolte, I.M and Segre, A.V and Holm, H and Handsaker, R.E and Westra, H.J and Johnson, T and Isaacs, A and Yang, J and Lundby, A and Zhao, J.H and Kim, Y. J and Go, M.J and Almgren, P and Bochud, M and Boucher, G and Cornelis, M.C and Gudbjartsson, D and Hadley, D and Harst, P. van der and Hayward, C and Heijer, M. den and Igl, W and Jackson, A.U and Kutalik, Z and Luan, J and Kemp, J.P and Kristiansson, K and Ladenvall, C and Lorentzon, M and Montasser, M.E and Njajou, O.T and O'Reilly, P.F and Padmanabhan, S and Pourcain, B. St and Rankinen, T and Salo, P and Tanaka, T and Timpson, N.J and Vitart, V and Waite, L and Wheeler, W and Zhang, W and isma, H.H and Feitosa, M.F and Kerr, K.F and Lind, P.A and Mihailov, E and Onland-Moret, N.C and Song, C and Weedon, M.N and Xie, W and Yengo, L and Absher, D and Albert, C.M and Alonso, A and Arking, D.E and Bakker, P.I. de and Balkau, B and Barlassina, C and Benaglio, P and Bis, J.C and Bouatia-Naji, N and Brage, S and Chanock, S.J and Chines, P.S and Chung, M and Darbar, D and Dina, C and Dorr, M and Elliott, P and Felix, S.B and Fischer, K and Fuchsberger, C and Geus, E.J. de and Goyette, P and Gudnason, V and Harris, T.B and Hartikainen, A.L and Havulinna, A.S and Heckbert, S.R and Hicks, A.A and Hofman, A and Holewijn, S and Hoogstra-Berends, F and Hottenga, J.J and Jensen, M.K and Johansson, A and Junttila, J and Kaab, S and Kanon, B and Ketkar, S and Khaw, K.T and Knowles, J.W and Kooner, A.S and ... and QRS GWGWAS Consortium and Global BPgen Consortium and QT-IGCGC Consortium and CARDIoGRAM Consortium and PR GWGWAS Consortium and CHARGE-AF Consortium and QRS GWAS Consortium and QT-IGC Consortium and PR GWAS Consortium and Medicinska fakulteten and Science for Life Laboratory, SciLifeLab and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm and Kardiovaskulär epidemiologi and Genomik and Uppsala universitet and Institutionen för medicinska vetenskaper and Uppsala kliniska forskningscentrum (UCR)
Nature Genetics, ISSN 1061-4036, 2013, Volume 45, Issue 6, pp. 621 - 631
Journal Article
Journal of Genetic Counseling, ISSN 1059-7700, 8/2014, Volume 23, Issue 4, pp. 496 - 505
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 886 - 893
Journal Article
Current Genetic Medicine Reports, ISSN 2167-4876, 06/2017, Volume 5, Issue 2, pp. 75 - 83
Purpose of review This review aims to summarize the current landscape of prenatal diagnostic exome sequencing (PDES), provide insight into this new diagnostic... 
Etiology | Fetuses
Journal Article
American Journal of Obstetrics and Gynecology, ISSN 0002-9378, 12/2017, Volume 217, Issue 6, pp. 691.e1 - 691.e6
Since its debut in 2011, cell-free fetal DNA screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data... 
amniocentesis | trisomy 13 | trisomy 21 | 47,XXY | noninvasive prenatal testing | noninvasive prenatal screening | 47,XXX | 47,XYY | cell-free DNA | NIPT | prenatal diagnosis | microdeletion syndrome | trisomy 18 | CHROMOSOMAL MICROARRAY | TRISOMIES 21 | FREE DNA | RISK | CLINICAL-EXPERIENCE | OBSTETRICS & GYNECOLOGY | FETAL ANEUPLOIDIES | Chromosome Disorders - blood | Predictive Value of Tests | Turner Syndrome - blood | Cri-du-Chat Syndrome - diagnosis | Humans | Angelman Syndrome - diagnosis | Sex Chromosome Disorders of Sex Development - genetics | Turner Syndrome - diagnosis | Sex Chromosome Disorders of Sex Development - blood | Trisomy 18 Syndrome - diagnosis | Cri-du-Chat Syndrome - genetics | Klinefelter Syndrome - blood | Klinefelter Syndrome - genetics | Sex Chromosome Aberrations | Microarray Analysis | Karyotyping | Down Syndrome - blood | Angelman Syndrome - genetics | Chorionic Villi Sampling | Chromosome Disorders - diagnosis | Prader-Willi Syndrome - genetics | Female | Down Syndrome - diagnosis | Amniocentesis | Prader-Willi Syndrome - diagnosis | Trisomy 13 Syndrome - genetics | Chromosomes, Human, X - genetics | Prader-Willi Syndrome - blood | Prenatal Diagnosis | In Situ Hybridization, Fluorescence | Cri-du-Chat Syndrome - blood | Pregnancy | Trisomy 18 Syndrome - blood | Sex Chromosome Disorders of Sex Development - diagnosis | Trisomy - diagnosis | Trisomy - genetics | Trisomy 13 Syndrome - blood | Cell-Free Nucleic Acids - blood | Trisomy 18 Syndrome - genetics | Down Syndrome - genetics | Klinefelter Syndrome - diagnosis | Turner Syndrome - genetics | Angelman Syndrome - blood | Trisomy 13 Syndrome - diagnosis | Chromosome Disorders - genetics | DNA microarrays | Medical screening | Pregnant women | Chromosomes | Analysis | Index Medicus | Abridged Index Medicus
Journal Article