Edelmann L - Search Results

1

Long-read HiFi sequencing of NUDT15: Phased full-gene haplotyping and pharmacogenomic allele discovery.

Scott ER, Yang Y, Botton MR, Seki Y, Hoshitsuki K, Harting J, Baybayan P, Cody N, Nicoletti P, Moriyama T, Chakraborty S, Yang JJ, Edelmann L, Schadt EE, Korlach J, Scott SA. Scott ER, et al. Among authors: edelmann l. Hum Mutat. 2022 Nov;43(11):1557-1566. doi: 10.1002/humu.24457. Epub 2022 Sep 12. Hum Mutat. 2022. PMID: 36057977 Free PMC article.

2

Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.

Edelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman SE, Diaz GA. Edelmann L, et al. Am J Hum Genet. 2001 Oct;69(4):863-8. doi: 10.1086/323677. Epub 2001 Aug 16. Am J Hum Genet. 2001. PMID: 11509994 Free PMC article.

3

CYP2C9, CYP2C19 and CYP2D6 allele frequencies in the Ashkenazi Jewish population.

Scott SA, Edelmann L, Kornreich R, Erazo M, Desnick RJ. Scott SA, et al. Among authors: edelmann l. Pharmacogenomics. 2007 Jul;8(7):721-30. doi: 10.2217/14622416.8.7.721. Pharmacogenomics. 2007. PMID: 18240905

4

Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations.

Scott SA, Edelmann L, Kornreich R, Desnick RJ. Scott SA, et al. Among authors: edelmann l. Am J Hum Genet. 2008 Feb;82(2):495-500. doi: 10.1016/j.ajhg.2007.10.002. Epub 2008 Jan 17. Am J Hum Genet. 2008. PMID: 18252229 Free PMC article.

5

Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization.

Scott SA, Cohen N, Brandt T, Toruner G, Desnick RJ, Edelmann L. Scott SA, et al. Among authors: edelmann l. Genet Med. 2010 Feb;12(2):85-92. doi: 10.1097/GIM.0b013e3181cc75d0. Genet Med. 2010. PMID: 20084009 Free article.

6

Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome.

Scott SA, Cohen N, Brandt T, Warburton PE, Edelmann L. Scott SA, et al. Among authors: edelmann l. Hum Mol Genet. 2010 Sep 1;19(17):3383-93. doi: 10.1093/hmg/ddq250. Epub 2010 Jun 22. Hum Mol Genet. 2010. PMID: 20570968 Free PMC article.

7

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

Scott SA, Edelmann L, Liu L, Luo M, Desnick RJ, Kornreich R. Scott SA, et al. Among authors: edelmann l. Hum Mutat. 2010 Nov;31(11):1240-50. doi: 10.1002/humu.21327. Hum Mutat. 2010. PMID: 20672374 Free PMC article.

8

Copy number variation and warfarin dosing: evaluation of CYP2C9, VKORC1, CYP4F2, GGCX and CALU.

Scott SA, Patel M, Martis S, Lubitz SA, van der Zee S, Yoo C, Edelmann L, Halperin JL, Desnick RJ. Scott SA, et al. Among authors: edelmann l. Pharmacogenomics. 2012 Feb;13(3):297-307. doi: 10.2217/pgs.11.156. Epub 2011 Dec 21. Pharmacogenomics. 2012. PMID: 22188360 Free PMC article.

9

Multi-ethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation.

Martis S, Mei H, Vijzelaar R, Edelmann L, Desnick RJ, Scott SA. Martis S, et al. Among authors: edelmann l. Pharmacogenomics J. 2013 Dec;13(6):558-66. doi: 10.1038/tpj.2012.48. Epub 2012 Nov 20. Pharmacogenomics J. 2013. PMID: 23164804 Free PMC article.

10

An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy.

Luo M, Liu L, Peter I, Zhu J, Scott SA, Zhao G, Eversley C, Kornreich R, Desnick RJ, Edelmann L. Luo M, et al. Among authors: edelmann l. Genet Med. 2014 Feb;16(2):149-56. doi: 10.1038/gim.2013.84. Epub 2013 Jun 20. Genet Med. 2014. PMID: 23788250 Free article.

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