Edelmann L - Search Results

1

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.

Chen R, Shi L, Hakenberg J, Naughton B, Sklar P, Zhang J, Zhou H, Tian L, Prakash O, Lemire M, Sleiman P, Cheng WY, Chen W, Shah H, Shen Y, Fromer M, Omberg L, Deardorff MA, Zackai E, Bobe JR, Levin E, Hudson TJ, Groop L, Wang J, Hakonarson H, Wojcicki A, Diaz GA, Edelmann L, Schadt EE, Friend SH. Chen R, et al. Among authors: edelmann l. Nat Biotechnol. 2016 May;34(5):531-8. doi: 10.1038/nbt.3514. Epub 2016 Apr 11. Nat Biotechnol. 2016. PMID: 27065010

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

A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population.

Webb BD, Brandt T, Liu L, Jalas C, Liao J, Fedick A, Linderman MD, Diaz GA, Kornreich R, Trachtman H, Mehta L, Edelmann L. Webb BD, et al. Among authors: edelmann l. Clin Genet. 2014 Aug;86(2):155-60. doi: 10.1111/cge.12247. Epub 2013 Sep 2. Clin Genet. 2014. PMID: 23927549

4

Analytical validation of whole exome and whole genome sequencing for clinical applications.

Linderman MD, Brandt T, Edelmann L, Jabado O, Kasai Y, Kornreich R, Mahajan M, Shah H, Kasarskis A, Schadt EE. Linderman MD, et al. Among authors: edelmann l. BMC Med Genomics. 2014 Apr 23;7:20. doi: 10.1186/1755-8794-7-20. BMC Med Genomics. 2014. PMID: 24758382 Free PMC article.

5

ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.

Wang J, Liao J, Zhang J, Cheng WY, Hakenberg J, Ma M, Webb BD, Ramasamudram-Chakravarthi R, Karger L, Mehta L, Kornreich R, Diaz GA, Li S, Edelmann L, Chen R. Wang J, et al. Among authors: edelmann l. Genome Med. 2015 Jul 29;7(1):77. doi: 10.1186/s13073-015-0207-6. Genome Med. 2015. PMID: 26338694 Free PMC article.

6

Development and clinical application of an integrative genomic approach to personalized cancer therapy.

Uzilov AV, Ding W, Fink MY, Antipin Y, Brohl AS, Davis C, Lau CY, Pandya C, Shah H, Kasai Y, Powell J, Micchelli M, Castellanos R, Zhang Z, Linderman M, Kinoshita Y, Zweig M, Raustad K, Cheung K, Castillo D, Wooten M, Bourzgui I, Newman LC, Deikus G, Mathew B, Zhu J, Glicksberg BS, Moe AS, Liao J, Edelmann L, Dudley JT, Maki RG, Kasarskis A, Holcombe RF, Mahajan M, Hao K, Reva B, Longtine J, Starcevic D, Sebra R, Donovan MJ, Li S, Schadt EE, Chen R. Uzilov AV, et al. Among authors: edelmann l. Genome Med. 2016 Jun 1;8(1):62. doi: 10.1186/s13073-016-0313-0. Genome Med. 2016. PMID: 27245685 Free PMC article.

7

Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.

Shi L, Webb BD, Birch AH, Elkhoury L, McCarthy J, Cai X, Oishi K, Mehta L, Diaz GA, Edelmann L, Kornreich R. Shi L, et al. Among authors: edelmann l. Clin Genet. 2017 Apr;91(4):599-604. doi: 10.1111/cge.12834. Epub 2016 Aug 22. Clin Genet. 2017. PMID: 27415407 Free PMC article.

8

Institutional profile: translational pharmacogenomics at the Icahn School of Medicine at Mount Sinai.

Scott SA, Owusu Obeng A, Botton MR, Yang Y, Scott ER, Ellis SB, Wallsten R, Kaszemacher T, Zhou X, Chen R, Nicoletti P, Naik H, Kenny EE, Vega A, Waite E, Diaz GA, Dudley J, Halperin JL, Edelmann L, Kasarskis A, Hulot JS, Peter I, Bottinger EP, Hirschhorn K, Sklar P, Cho JH, Desnick RJ, Schadt EE. Scott SA, et al. Among authors: edelmann l. Pharmacogenomics. 2017 Oct;18(15):1381-1386. doi: 10.2217/pgs-2017-0137. Epub 2017 Oct 6. Pharmacogenomics. 2017. PMID: 28982267 Free PMC article. Review.

9

Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints.

Shi L, Bai Y, Kharbutli Y, Oza AM, Amr SS, Edelmann L, Mehta L, Scott SA. Shi L, et al. Among authors: edelmann l. Mol Genet Genomic Med. 2019 Aug;7(8):e806. doi: 10.1002/mgg3.806. Epub 2019 Jun 19. Mol Genet Genomic Med. 2019. PMID: 31218851 Free PMC article.

10

Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles.

Botton MR, Lu X, Zhao G, Repnikova E, Seki Y, Gaedigk A, Schadt EE, Edelmann L, Scott SA. Botton MR, et al. Among authors: edelmann l. Hum Mutat. 2019 Nov;40(11):e37-e51. doi: 10.1002/humu.23855. Hum Mutat. 2019. PMID: 31260137 Free PMC article.

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