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Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.
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
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.
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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.
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Genetic Etiologies for Chronic Kidney Disease Revealed through Next-Generation Renal Gene Panel.
Bleyer AJ, Westemeyer M, Xie J, Bloom MS, Brossart K, Eckel JJ, Jones F, Molnar MZ, Kotzker W, Anand P, Kmoch S, Xue Y, Strom S, Punj S, Demko ZP, Tabriziani H, Billings PR, McKanna T.
Bleyer AJ, et al.
Am J Nephrol. 2022;53(4):297-306. doi: 10.1159/000522226. Epub 2022 Mar 24.
Am J Nephrol. 2022.
PMID: 35325889
Free PMC article.
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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.
Mol Syndromol. 2013 Jan;3(6):247-54. doi: 10.1159/000345578. Epub 2013 Jan 5.
Mol Syndromol. 2013.
PMID: 23599694
Free PMC article.
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Preimplantation Genetic Testing for Kidney Disease-Related Genes: A Laboratory's Experience.
Chaperon JL, Wemmer NM, McKanna TA, Clark DM, Westemeyer MA, Gauthier P, Bai Y, Coleman JM.
Chaperon JL, et al. Among authors: westemeyer ma.
Am J Nephrol. 2021;52(8):684-690. doi: 10.1159/000518253. Epub 2021 Sep 2.
Am J Nephrol. 2021.
PMID: 34515037
Free PMC article.
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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.
PLoS One. 2014 May 7;9(5):e96677. doi: 10.1371/journal.pone.0096677. eCollection 2014.
PLoS One. 2014.
PMID: 24805989
Free PMC article.
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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.
Prenat Diagn. 2013 Jul;33(7):643-9. doi: 10.1002/pd.4159. Epub 2013 Jun 20.
Prenat Diagn. 2013.
PMID: 23712453
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