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Journal Abstract Search

160 related items for PubMed ID: 39251974

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  • 4. Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases.
    Qin Y, Yao Y, Liu N, Wang B, Liu L, Li H, Gao T, Xu R, Wang X, Zhang F, Song J.
    BMC Med Genomics; 2023 Oct 25; 16(1):262. PubMed ID: 37880672
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  • 6. The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
    Diderich KEM, Romijn K, Joosten M, Govaerts LCP, Polak M, Bruggenwirth HT, Wilke M, van Slegtenhorst MA, van Bever Y, Brooks AS, Mancini GMS, van de Laar IMBH, Kromosoeto JNR, Knapen MFCM, Go ATJI, Van Opstal D, Hoefsloot LH, Galjaard RH, Srebniak MI.
    Acta Obstet Gynecol Scand; 2021 Jun 25; 100(6):1106-1115. PubMed ID: 33249554
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  • 7. Whole-genome sequencing analysis in fetal structural anomalies: novel phenotype-genotype discoveries.
    Qi Q, Jiang Y, Zhou X, Lü Y, Xiao R, Bai J, Lou H, Sun W, Lian Y, Hao N, Li M, Chang J.
    Ultrasound Obstet Gynecol; 2024 May 25; 63(5):664-671. PubMed ID: 37842862
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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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  • 10. Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?
    Mellis R, Eberhardt RY, Hamilton SJ, PAGE Consortium, McMullan DJ, Kilby MD, Maher ER, Hurles ME, Giordano JL, Aggarwal V, Goldstein DB, Wapner RJ, Chitty LS.
    BJOG; 2022 Jan 23; 129(1):52-61. PubMed ID: 34411415
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  • 11. Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
    Yates CL, Monaghan KG, Copenheaver D, Retterer K, Scuffins J, Kucera CR, Friedman B, Richard G, Juusola J.
    Genet Med; 2017 Oct 23; 19(10):1171-1178. PubMed ID: 28425981
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  • 14. Implementation of exome sequencing in fetal diagnostics-Data and experiences from a tertiary center in Denmark.
    Becher N, Andreasen L, Sandager P, Lou S, Petersen OB, Christensen R, Vogel I.
    Acta Obstet Gynecol Scand; 2020 Jun 23; 99(6):783-790. PubMed ID: 32304219
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  • 15. [Analysis of families with fetal congenital abnormalities but negative prenatal diagnosis by whole exome sequencing].
    Fu F, Li LS, Du K, Li R, Yu QX, Wang D, Lei TY, Deng Q, Nie ZQ, Zhang WW, Yang X, Han J, Zhen L, Pan M, Zhang LN, Li FC, Zhang YL, Jing XY, Li DZ, Liao C.
    Zhonghua Fu Chan Ke Za Zhi; 2021 Jul 25; 56(7):458-466. PubMed ID: 34304437
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  • 16. Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
    Quinlan-Jones E, Lord J, Williams D, Hamilton S, Marton T, Eberhardt RY, Rinck G, Prigmore E, Keelagher R, McMullan DJ, Maher ER, Hurles ME, Kilby MD.
    Genet Med; 2019 May 25; 21(5):1065-1073. PubMed ID: 30293990
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  • 17. Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies.
    Chen X, Jiang Y, Chen R, Qi Q, Zhang X, Zhao S, Liu C, Wang W, Li Y, Sun G, Song J, Huang H, Cheng C, Zhang J, Cheng L, Liu J.
    J Transl Med; 2022 Jan 03; 20(1):10. PubMed ID: 34980134
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  • 18. Whole-exome sequencing in the evaluation of fetal congenital anomalies of the kidney and urinary tract detected by ultrasonography.
    Lei TY, Fu F, Li R, Yu QX, Du K, Zhang WW, Deng Q, Li LS, Wang D, Yang X, Zhen L, Li DZ, Liao C.
    Prenat Diagn; 2020 Sep 03; 40(10):1290-1299. PubMed ID: 32436246
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  • 19. Fetal exome sequencing: yield and limitations in a tertiary referral center.
    Daum H, Meiner V, Elpeleg O, Harel T, collaborating authors.
    Ultrasound Obstet Gynecol; 2019 Jan 03; 53(1):80-86. PubMed ID: 29947050
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  • 20. 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 03; 141(1):101-126. PubMed ID: 34853893
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