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2011 1
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39 results

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Page 1
The Perspectives and Experiences of Prospective Parents Declining Diagnostic Prenatal Genome Sequencing in Continuing Pregnancies With Fetal Structural Anomalies.
Weingarten LS, Rosenbaum A, de Voest J, Galloway S, Giordano JL, Stover S, Westerfield LE, Bonesteele G, Gilmore KL, Tolusso L, Wong B, Wittman AT, Swarr DT, Leslie N, Johnson A, Van den Veyver IB, Vora NL, Clifton RG, Caughey AB, Wapner RJ, Chung WK. Weingarten LS, et al. Prenat Diagn. 2025 Dec 3. doi: 10.1002/pd.70034. Online ahead of print. Prenat Diagn. 2025. PMID: 41339121
Amniocentesis in pregnancies at or beyond 24 weeks: an international multicenter study.
Zemet R, Maktabi MA, Tinfow A, Giordano JL, Heisler TM, Yan Q, Plaschkes R, Stokes J, Walsh JM, Corcoran S, Schindewolf E, Miller K, Talati AN, Miller KA, Blakemore K, Swanson K, Ramm J, Bedei I, Sparks TN, Jelin AC, Vora NL, Gebb JS, Crosby DA, Berkenstadt M, Weisz B, Wapner RJ, Van Den Veyver IB. Zemet R, et al. Am J Obstet Gynecol. 2025 Apr;232(4):402.e1-402.e16. doi: 10.1016/j.ajog.2024.06.025. Epub 2024 Jun 22. Am J Obstet Gynecol. 2025. PMID: 38914189 Free PMC article.
Lethal phenotypes in Mendelian disorders.
Cacheiro P, Lawson S, Van den Veyver IB, Marengo G, Zocche D, Murray SA, Duyzend M, Robinson PN, Smedley D. Cacheiro P, et al. Genet Med. 2024 Jul;26(7):101141. doi: 10.1016/j.gim.2024.101141. Epub 2024 Apr 15. Genet Med. 2024. PMID: 38629401 Free PMC article.
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. Prenat Diagn. 2024 Apr;44(4):454-464. doi: 10.1002/pd.6522. Epub 2024 Jan 19. Prenat Diagn. 2024. PMID: 38242839 Free PMC article. Review.
CYP3A4 and CYP3A5 Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, and Pharmacogenomics Knowledgebase.
Pratt VM, Cavallari LH, Fulmer ML, Gaedigk A, Hachad H, Ji Y, Kalman LV, Ly RC, Moyer AM, Scott SA, van Schaik RHN, Whirl-Carrillo M, Weck KE. Pratt VM, et al. J Mol Diagn. 2023 Sep;25(9):619-629. doi: 10.1016/j.jmoldx.2023.06.008. Epub 2023 Jul 6. J Mol Diagn. 2023. PMID: 37419245 Free PMC article. Review.
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Patterson V, Ullah F, Bryant L, Griffin JN, Sidhu A, Saliganan S, Blaile M, Saenz MS, Smith R, Ellingwood S, Grange DK, Hu X, Mireguli M, Luo Y, Shen Y, Mulhern M, Zackai E, Ritter A, Izumi K, Hoefele J, Wagner M, Riedhammer KM, Seitz B, Robin NH, Goodloe D, Mignot C, Keren B, Cox H, Jarvis J, Hempel M, Gibson CF, Tran Mau-Them F, Vitobello A, Bruel AL, Sorlin A, Mehta S, Raymond FL, Gilmore K, Powell BC, Weck K, Li C, Vulto-van Silfhout AT, Giacomini T, Mancardi MM, Accogli A, Salpietro V, Zara F, Vora NL, Davis EE, Burdine R, Bhoj E. Patterson V, et al. Sci Adv. 2023 Apr 28;9(17):eade0631. doi: 10.1126/sciadv.ade0631. Epub 2023 Apr 26. Sci Adv. 2023. PMID: 37126546 Free PMC article.
TPMT and NUDT15 Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, and Pharmacogenomics Knowledgebase.
Pratt VM, Cavallari LH, Fulmer ML, Gaedigk A, Hachad H, Ji Y, Kalman LV, Ly RC, Moyer AM, Scott SA, van Schaik RHN, Whirl-Carrillo M, Weck KE. Pratt VM, et al. J Mol Diagn. 2022 Oct;24(10):1051-1063. doi: 10.1016/j.jmoldx.2022.06.007. Epub 2022 Aug 2. J Mol Diagn. 2022. PMID: 35931343 Free PMC article. Review.
Recommendations for Clinical CYP2D6 Genotyping Allele Selection: A Joint Consensus Recommendation of the Association for Molecular Pathology, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, and the European Society for Pharmacogenomics and Personalized Therapy.
Pratt VM, Cavallari LH, Del Tredici AL, Gaedigk A, Hachad H, Ji Y, Kalman LV, Ly RC, Moyer AM, Scott SA, van Schaik RHN, Whirl-Carrillo M, Weck KE. Pratt VM, et al. J Mol Diagn. 2021 Sep;23(9):1047-1064. doi: 10.1016/j.jmoldx.2021.05.013. Epub 2021 Jun 10. J Mol Diagn. 2021. PMID: 34118403 Free PMC article. Review.
Causal Genetic Variants in Stillbirth. Reply.
Stanley KE, Wapner RJ, Goldstein DB. Stanley KE, et al. N Engl J Med. 2020 Dec 31;383(27):2687-2688. doi: 10.1056/NEJMc2032136. N Engl J Med. 2020. PMID: 33382938 No abstract available.
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. 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.
Chromosomal microarray versus karyotyping for prenatal diagnosis.
Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L. Wapner RJ, et al. N Engl J Med. 2012 Dec 6;367(23):2175-84. doi: 10.1056/NEJMoa1203382. N Engl J Med. 2012. PMID: 23215555 Free PMC article. Clinical Trial.