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Journal Abstract Search

298 related items for PubMed ID: 32333414

  • 1. Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
    Deden C, Neveling K, Zafeiropopoulou D, Gilissen C, Pfundt R, Rinne T, de Leeuw N, Faas B, Gardeitchik T, Sallevelt SCEH, Paulussen A, Stevens SJC, Sikkel E, Elting MW, van Maarle MC, Diderich KEM, Corsten-Janssen N, Lichtenbelt KD, Lachmeijer G, Vissers LELM, Yntema HG, Nelen M, Feenstra I, van Zelst-Stams WAG.
    Prenat Diagn; 2020 Jul; 40(8):972-983. PubMed ID: 32333414
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  • 8. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
    Petrovski S, Aggarwal V, Giordano JL, Stosic M, Wou K, Bier L, Spiegel E, Brennan K, Stong N, Jobanputra V, Ren Z, Zhu X, Mebane C, Nahum O, Wang Q, Kamalakaran S, Malone C, Anyane-Yeboa K, Miller R, Levy B, Goldstein DB, Wapner RJ.
    Lancet; 2019 Feb 23; 393(10173):758-767. PubMed ID: 30712878
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  • 13. Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis.
    Huang W, Zhu X, Sun G, Gao Z, Kong X.
    BMC Med Genomics; 2023 Feb 16; 16(1):25. PubMed ID: 36797717
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  • 15. A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.
    Dufke A, Hoopmann M, Waldmüller S, Prodan NC, Beck-Wödl S, Grasshoff U, Heinrich T, Riess A, Kehrer M, Falb RJ, Liebmann A, Roggia C, Stampfer M, Schadeck M, Müller AJ, Grimmel M, Stöbe P, Gauck D, Buchert-Lo R, Baumann S, Schäferhoff K, Bertrand M, Menden B, Sturm M, Schütz L, Riess O, Ossowski S, Haack TB, Kagan KO.
    Prenat Diagn; 2022 Jun 16; 42(7):901-910. PubMed ID: 35574990
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  • 19. Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.
    Al-Hamed MH, Kurdi W, Khan R, Tulbah M, AlNemer M, AlSahan N, AlMugbel M, Rafiullah R, Assoum M, Monies D, Shah Z, Rahbeeni Z, Derar N, Hakami F, Almutairi G, AlOtaibi A, Ali W, AlShammasi A, AlMubarak W, AlDawoud S, AlAmri S, Saeed B, Bukhari H, Ali M, Akili R, Alquayt L, Hagos S, Elbardisy H, Akilan A, Almuhana N, AlKhalifah A, Abouelhoda M, Ramzan K, Sayer JA, Imtiaz F.
    Hum Genet; 2022 Jan 16; 141(1):101-126. PubMed ID: 34853893
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  • 20. Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
    Chandler N, Best S, Hayward J, Faravelli F, Mansour S, Kivuva E, Tapon D, Male A, DeVile C, Chitty LS.
    Genet Med; 2018 Nov 16; 20(11):1430-1437. PubMed ID: 29595812
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