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Year Number of Results
2013 2
2014 1
2020 3
2021 0
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6 results
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Page 1
Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.
Westemeyer M, Saucier J, Wallace J, Prins SA, Shetty A, Malhotra M, Demko ZP, Eng CM, Weckstein L, Boostanfar R, Rabinowitz M, Benn P, Keen-Kim D, Billings P. Westemeyer M, et al. Genet Med. 2020 Aug;22(8):1320-1328. doi: 10.1038/s41436-020-0807-4. Epub 2020 May 5. Genet Med. 2020. PMID: 32366966 Free PMC article.
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.
Schmidt JL, Pizzino A, Nicholl J, Foley A, Wang Y, Rosenfeld JA, Mighion L, Bean L, da Silva C, Cho MT, Truty R, Garcia J, Speare V, Blanco K, Powis Z, Hobson GM, Kirwin S, Krock B, Lee H, Deignan JL, Westemeyer MA, Subaran RL, Thiffault I, Tsai EA, Fang T, Helman G, Vanderver A. Schmidt JL, et al. Among authors: westemeyer ma. Am J Med Genet A. 2020 Aug;182(8):1906-1912. doi: 10.1002/ajmg.a.61641. Epub 2020 Jun 23. Am J Med Genet A. 2020. PMID: 32573057
Correction: Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.
Westemeyer M, Saucier J, Wallace J, Prins SA, Shetty A, Malhotra M, Demko ZP, Eng CM, Weckstein L, Boostanfar R, Rabinowitz M, Benn P, Keen-Kim D, Billings P. Westemeyer M, et al. Genet Med. 2020 Jul;22(7):1282. doi: 10.1038/s41436-020-0853-y. Genet Med. 2020. PMID: 32483296 Free PMC article.
Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.
Rosenfeld JA, Kim KH, Angle B, Troxell R, Gorski JL, Westemeyer M, Frydman M, Senturias Y, Earl D, Torchia B, Schultz RA, Ellison JW, Tsuchiya K, Zimmerman S, Smolarek TA, Ballif BC, Shaffer LG. Rosenfeld JA, et al. Among authors: westemeyer m. Mol Syndromol. 2013 Jan;3(6):247-54. doi: 10.1159/000345578. Epub 2013 Jan 5. Mol Syndromol. 2013. PMID: 23599694 Free PMC article.
Non-invasive prenatal detection of trisomy 13 using a single nucleotide polymorphism- and informatics-based approach.
Hall MP, Hill M, Zimmermann B, Sigurjonsson S, Westemeyer M, Saucier J, Demko Z, Rabinowitz M. Hall MP, et al. Among authors: westemeyer m. PLoS One. 2014 May 7;9(5):e96677. doi: 10.1371/journal.pone.0096677. eCollection 2014. PLoS One. 2014. PMID: 24805989 Free PMC article.
SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy.
Samango-Sprouse C, Banjevic M, Ryan A, Sigurjonsson S, Zimmermann B, Hill M, Hall MP, Westemeyer M, Saucier J, Demko Z, Rabinowitz M. Samango-Sprouse C, et al. Among authors: westemeyer m. Prenat Diagn. 2013 Jul;33(7):643-9. doi: 10.1002/pd.4159. Epub 2013 Jun 20. Prenat Diagn. 2013. PMID: 23712453 Free PMC article.
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