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532 results

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Page 1
Improving prenatal diagnosis through standards and aggregation.
Duyzend MH, Cacheiro P, Jacobsen JOB, Giordano J, Brand H, Wapner RJ, Talkowski ME, Robinson PN, Smedley D. Duyzend MH, et al. Among authors: giordano j. Prenat Diagn. 2024 Apr;44(4):454-464. doi: 10.1002/pd.6522. Epub 2024 Jan 19. Prenat Diagn. 2024. PMID: 38242839 Review.
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. Petrovski S, et al. Among authors: giordano jl. Lancet. 2019 Feb 23;393(10173):758-767. doi: 10.1016/S0140-6736(18)32042-7. Epub 2019 Jan 31. Lancet. 2019. PMID: 30712878
COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review.
Mone F, Eberhardt RY, Morris RK, Hurles ME, McMullan DJ, Maher ER, Lord J, Chitty LS, Giordano JL, Wapner RJ, Kilby MD; CODE Study Collaborators. Mone F, et al. Among authors: giordano jl. Ultrasound Obstet Gynecol. 2021 Jan;57(1):43-51. doi: 10.1002/uog.22072. Epub 2020 Dec 3. Ultrasound Obstet Gynecol. 2021. PMID: 32388881 Free article.
Causal Genetic Variants in Stillbirth.
Stanley KE, Giordano J, Thorsten V, Buchovecky C, Thomas A, Ganapathi M, Liao J, Dharmadhikari AV, Revah-Politi A, Ernst M, Lippa N, Holmes H, Povysil G, Hostyk J, Parker CB, Goldenberg R, Saade GR, Dudley DJ, Pinar H, Hogue C, Reddy UM, Silver RM, Aggarwal V, Allen AS, Wapner RJ, Goldstein DB. Stanley KE, et al. Among authors: giordano j. N Engl J Med. 2020 Sep 17;383(12):1107-1116. doi: 10.1056/NEJMoa1908753. Epub 2020 Aug 12. N Engl J Med. 2020. PMID: 32786180 Free PMC article.
Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis.
Mone F, Eberhardt RY, Hurles ME, Mcmullan DJ, Maher ER, Lord J, Chitty LS, Dempsey E, Homfray T, Giordano JL, Wapner RJ, Sun L, Sparks TN, Norton ME, Kilby MD. Mone F, et al. Among authors: giordano jl. Ultrasound Obstet Gynecol. 2021 Oct;58(4):509-518. doi: 10.1002/uog.23652. Ultrasound Obstet Gynecol. 2021. PMID: 33847422 Free PMC article.
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. Mellis R, et al. Among authors: giordano jl. BJOG. 2022 Jan;129(1):52-61. doi: 10.1111/1471-0528.16869. Epub 2021 Sep 14. BJOG. 2022. PMID: 34411415 Free PMC article.
532 results