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516 results

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Page 1
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.
Karyotype versus microarray testing for genetic abnormalities after stillbirth.
Reddy UM, Page GP, Saade GR, Silver RM, Thorsten VR, Parker CB, Pinar H, Willinger M, Stoll BJ, Heim-Hall J, Varner MW, Goldenberg RL, Bukowski R, Wapner RJ, Drews-Botsch CD, O'Brien BM, Dudley DJ, Levy B; NICHD Stillbirth Collaborative Research Network. Reddy UM, et al. Among authors: wapner rj. N Engl J Med. 2012 Dec 6;367(23):2185-93. doi: 10.1056/NEJMoa1201569. N Engl J Med. 2012. PMID: 23215556 Free PMC article.
Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes.
Wapner RJ, Babiarz JE, Levy B, Stosic M, Zimmermann B, Sigurjonsson S, Wayham N, Ryan A, Banjevic M, Lacroute P, Hu J, Hall MP, Demko Z, Siddiqui A, Rabinowitz M, Gross SJ, Hill M, Benn P. Wapner RJ, et al. Am J Obstet Gynecol. 2015 Mar;212(3):332.e1-9. doi: 10.1016/j.ajog.2014.11.041. Epub 2014 Dec 2. Am J Obstet Gynecol. 2015. PMID: 25479548 Free article.
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.
Collins RL, Brand H, Redin CE, Hanscom C, Antolik C, Stone MR, Glessner JT, Mason T, Pregno G, Dorrani N, Mandrile G, Giachino D, Perrin D, Walsh C, Cipicchio M, Costello M, Stortchevoi A, An JY, Currall BB, Seabra CM, Ragavendran A, Margolin L, Martinez-Agosto JA, Lucente D, Levy B, Sanders SJ, Wapner RJ, Quintero-Rivera F, Kloosterman W, Talkowski ME. Collins RL, et al. Among authors: wapner rj. Genome Biol. 2017 Mar 6;18(1):36. doi: 10.1186/s13059-017-1158-6. Genome Biol. 2017. PMID: 28260531 Free PMC article.
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: wapner rj. Lancet. 2019 Feb 23;393(10173):758-767. doi: 10.1016/S0140-6736(18)32042-7. Epub 2019 Jan 31. Lancet. 2019. PMID: 30712878
Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis.
Vossaert L, Wang Q, Salman R, McCombs AK, Patel V, Qu C, Mancini MA, Edwards DP, Malovannaya A, Liu P, Shaw CA, Levy B, Wapner RJ, Bi W, Breman AM, Van den Veyver IB, Beaudet AL. Vossaert L, et al. Among authors: wapner rj. Am J Hum Genet. 2019 Dec 5;105(6):1262-1273. doi: 10.1016/j.ajhg.2019.11.004. Epub 2019 Nov 27. Am J Hum Genet. 2019. PMID: 31785788 Free PMC article.
516 results