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An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.
Milko LV, O'Daniel JM, DeCristo DM, Crowley SB, Foreman AKM, Wallace KE, Mollison LF, Strande NT, Girnary ZS, Boshe LJ, Aylsworth AS, Gucsavas-Calikoglu M, Frazier DM, Vora NL, Roche MI, Powell BC, Powell CM, Berg JS. Milko LV, et al. Among authors: vora nl. J Pediatr. 2019 Jun;209:68-76. doi: 10.1016/j.jpeds.2018.12.027. Epub 2019 Mar 7. J Pediatr. 2019. PMID: 30851990 Free PMC article.
Advances in genetic prenatal diagnosis and screening.
Hardisty EE, Vora NL. Hardisty EE, et al. Among authors: vora nl. Curr Opin Pediatr. 2014 Dec;26(6):634-8. doi: 10.1097/MOP.0000000000000145. Curr Opin Pediatr. 2014. PMID: 25211161 Review.
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. Vora NL, et al. Genet Med. 2017 Nov;19(11):1207-1216. doi: 10.1038/gim.2017.33. Epub 2017 May 18. Genet Med. 2017. PMID: 28518170 Free PMC article.
Screening for fetal chromosomal and subchromosomal disorders.
Harris S, Reed D, Vora NL. Harris S, et al. Among authors: vora nl. Semin Fetal Neonatal Med. 2018 Apr;23(2):85-93. doi: 10.1016/j.siny.2017.10.006. Epub 2017 Nov 8. Semin Fetal Neonatal Med. 2018. PMID: 29128491 Free PMC article. Review.
Increasing the diagnostic yield of exome sequencing by copy number variant analysis.
Marchuk DS, Crooks K, Strande N, Kaiser-Rogers K, Milko LV, Brandt A, Arreola A, Tilley CR, Bizon C, Vora NL, Wilhelmsen KC, Evans JP, Berg JS. Marchuk DS, et al. Among authors: vora nl. PLoS One. 2018 Dec 17;13(12):e0209185. doi: 10.1371/journal.pone.0209185. eCollection 2018. PLoS One. 2018. PMID: 30557390 Free PMC article.
112 results