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Page 1
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.
Blayney GV, Laffan E, Jacob PA, Baptiste CD, Gabriel H, Sparks TN, Yaron Y, Norton ME, Diderich K, Wang Y, Chong K, Chitayat D, Saini N, Aggarwal S, Pauta M, Borrell A, Gilmore K, Chandler NJ, Allen S, Vora N, Noor A, Monaghan C, Kilby MD, Wapner RJ, Chitty LS, Mone F. Blayney GV, et al. Among authors: norton me. Prenat Diagn. 2024 Apr;44(4):422-431. doi: 10.1002/pd.6466. Epub 2023 Dec 6. Prenat Diagn. 2024. PMID: 38054560 Free PMC article.
Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.
Brar BK, Thompson MG, Vora NL, Gilmore K, Blakemore K, Miller KA, Giordano J, Dufke A, Wong B, Stover S, Lianoglou B, Van den Veyver I, Dempsey E, Rosner M, Chong K, Chitayat D, Sparks TN, Norton ME, Wapner R, Baranano K, Jelin AC; Fetal Sequencing Consortium. Brar BK, et al. Among authors: norton me. Prenat Diagn. 2022 Dec;42(13):1686-1693. doi: 10.1002/pd.6269. Epub 2022 Nov 28. Prenat Diagn. 2022. PMID: 36403095 Free PMC article. Review.
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME. Slavotinek A, et al. Among authors: norton me. NPJ Genom Med. 2023 May 26;8(1):10. doi: 10.1038/s41525-023-00353-0. NPJ Genom Med. 2023. PMID: 37236975 Free PMC article.
The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction.
Brar BK, Blakemore K, Hertenstein C, Miller JL, Miller KA, Shamseldin H, Maddirevula S, Hays T, Lianoglou B, Dukhovny S, Baker LA, Sparks TN, Wapner R, Alkuraya FS, Norton ME, Jelin AC; Fetal Sequencing Consortium. Brar BK, et al. Among authors: norton me. Prenat Diagn. 2024 Feb;44(2):196-204. doi: 10.1002/pd.6425. Epub 2023 Aug 18. Prenat Diagn. 2024. PMID: 37594370
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Lowther C, Valkanas E, Giordano JL, Wang HZ, Currall BB, O'Keefe K, Pierce-Hoffman E, Kurtas NE, Whelan CW, Hao SP, Weisburd B, Jalili V, Fu J, Wong I, Collins RL, Zhao X, Austin-Tse CA, Evangelista E, Lemire G, Aggarwal VS, Lucente D, Gauthier LD, Tolonen C, Sahakian N, Stevens C, An JY, Dong S, Norton ME, MacKenzie TC, Devlin B, Gilmore K, Powell BC, Brandt A, Vetrini F, DiVito M, Sanders SJ, MacArthur DG, Hodge JC, O'Donnell-Luria A, Rehm HL, Vora NL, Levy B, Brand H, Wapner RJ, Talkowski ME. Lowther C, et al. Among authors: norton me. Am J Hum Genet. 2023 Sep 7;110(9):1454-1469. doi: 10.1016/j.ajhg.2023.07.010. Epub 2023 Aug 17. Am J Hum Genet. 2023. PMID: 37595579 Free PMC article.
Impact of high-risk prenatal screening results for 22q11.2 deletion syndrome on obstetric and neonatal management: Secondary analysis from the SMART study.
Martin K, Norton ME, MacPherson C, Demko Z, Egbert M, Haeri S, Malone F, Wapner RJ, Roman AS, Khalil A, Faro R, Madankumar R, Strong N, Silver R, Vohra N, Hyett J, Kao C, Hakonarson H, Jacobson B, Dar P. Martin K, et al. Among authors: norton me. Prenat Diagn. 2023 Dec;43(13):1574-1580. doi: 10.1002/pd.6483. Epub 2023 Dec 8. Prenat Diagn. 2023. PMID: 38066724
Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.
Sparks TN, Lianoglou BR, Adami RR, Pluym ID, Holliman K, Duffy J, Downum SL, Patel S, Faubel A, Boe NM, Field NT, Murphy A, Laurent LC, Jolley J, Uy C, Slavotinek AM, Devine P, Hodoglugil U, Van Ziffle J, Sanders SJ, MacKenzie TC, Norton ME; University of California Fetal–Maternal Consortium; University of California, San Francisco Center for Maternal–Fetal Precision Medicine. Sparks TN, et al. Among authors: norton me. N Engl J Med. 2020 Oct 29;383(18):1746-1756. doi: 10.1056/NEJMoa2023643. Epub 2020 Oct 7. N Engl J Med. 2020. PMID: 33027564 Free PMC article.
Performance of prenatal cfDNA screening for sex chromosomes.
Martin K, Dar P, MacPherson C, Egbert M, Demko Z, Parmar S, Hashimoto K, Haeri S, Malone F, Wapner RJ, Roman AS, Khalil A, Faro R, Madankumar R, Strong N, Silver RM, Vohra N, Hyett J, Rabinowitz M, Kao C, Hakonarson H, Jacobsson B, Norton ME. Martin K, et al. Among authors: norton me. Genet Med. 2023 Aug;25(8):100879. doi: 10.1016/j.gim.2023.100879. Epub 2023 May 5. Genet Med. 2023. PMID: 37154148 Free article.
248 results