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265 related items for PubMed ID: 30629328
21. Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges. Vora NL, Powell B, Brandt A, Strande N, Hardisty E, Gilmore K, Foreman AKM, Wilhelmsen K, Bizon C, Reilly J, Owen P, Powell CM, Skinner D, Rini C, Lyerly AD, Boggess KA, Weck K, Berg JS, Evans JP. Genet Med; 2017 Nov; 19(11):1207-1216. PubMed ID: 28518170 [Abstract] [Full Text] [Related]
22. Two fetuses in one family of arterial tortuosity syndrome: prenatal ultrasound diagnosis. Liang M, Wen H, Li S. BMC Pregnancy Childbirth; 2021 Aug 12; 21(1):548. PubMed ID: 34384376 [Abstract] [Full Text] [Related]
23. 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 [Abstract] [Full Text] [Related]
26. 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 03; 63(5):664-671. PubMed ID: 37842862 [Abstract] [Full Text] [Related]
27. Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing. Zhou J, Yang Z, Sun J, Liu L, Zhou X, Liu F, Xing Y, Cui S, Xiong S, Liu X, Yang Y, Wei X, Zou G, Wang Z, Wei X, Wang Y, Zhang Y, Yan S, Wu F, Zeng F, Wang J, Duan T, Peng Z, Sun L. Genes (Basel); 2021 Mar 06; 12(3):. PubMed ID: 33800913 [Abstract] [Full Text] [Related]
28. 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 06; 40(10):1290-1299. PubMed ID: 32436246 [Abstract] [Full Text] [Related]
30. The role of next-generation sequencing in the investigation of ultrasound-identified fetal structural anomalies. Kilby MD. BJOG; 2021 Jan 06; 128(2):420-429. PubMed ID: 32975887 [Abstract] [Full Text] [Related]
31. High-resolution microarray in the assessment of fetal anomalies detected by ultrasound. Charan P, Woodrow N, Walker SP, Ganesamoorthy D, McGillivray G, Palma-Dias R. Aust N Z J Obstet Gynaecol; 2014 Feb 06; 54(1):46-52. PubMed ID: 24471846 [Abstract] [Full Text] [Related]
33. Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes. Qi Q, Jiang Y, Zhou X, Meng H, Hao N, Chang J, Bai J, Wang C, Wang M, Guo J, Ouyang Y, Xu Z, Xiao M, Zhang VW, Liu J. Genes (Basel); 2020 Nov 25; 11(12):. PubMed ID: 33255631 [Abstract] [Full Text] [Related]
34. 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 [Abstract] [Full Text] [Related]
38. Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis. Mellis R, Oprych K, Scotchman E, Hill M, Chitty LS. Prenat Diagn; 2022 May 16; 42(6):662-685. PubMed ID: 35170059 [Abstract] [Full Text] [Related]
39. Ethical and counseling challenges in prenatal exome sequencing. Harris S, Gilmore K, Hardisty E, Lyerly AD, Vora NL. Prenat Diagn; 2018 Nov 16; 38(12):897-903. PubMed ID: 30171820 [Abstract] [Full Text] [Related]