Schadt EE - 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: schadt ee. 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

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: schadt ee. BMC Med Genomics. 2014 Apr 23;7:20. doi: 10.1186/1755-8794-7-20. BMC Med Genomics. 2014. PMID: 24758382 Free PMC article.

3

Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss.

Webb BD, Wheeler PG, Hagen JJ, Cohen N, Linderman MD, Diaz GA, Naidich TP, Rodenburg RJ, Houten SM, Schadt EE. Webb BD, et al. Among authors: schadt ee. Hum Mutat. 2015 Jun;36(6):587-92. doi: 10.1002/humu.22781. Epub 2015 Apr 8. Hum Mutat. 2015. PMID: 25754315 Free PMC article.

4

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: schadt ee. Nat Biotechnol. 2016 May;34(5):531-8. doi: 10.1038/nbt.3514. Epub 2016 Apr 11. Nat Biotechnol. 2016. PMID: 27065010

5

METHODS FOR CLUSTERING TIME SERIES DATA ACQUIRED FROM MOBILE HEALTH APPS.

Tignor N, Wang P, Genes N, Rogers L, Hershman SG, Scott ER, Zweig M, Yvonne Chan YF, Schadt EE. Tignor N, et al. Among authors: schadt ee. Pac Symp Biocomput. 2017;22:300-311. doi: 10.1142/9789813207813_0029. Pac Symp Biocomput. 2017. PMID: 27896984 Free article.

6

Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.

Webb BD, Metikala S, Wheeler PG, Sherpa MD, Houten SM, Horb ME, Schadt EE. Webb BD, et al. Among authors: schadt ee. Hum Mutat. 2017 Apr;38(4):373-377. doi: 10.1002/humu.23171. Epub 2017 Feb 2. Hum Mutat. 2017. PMID: 28054444 Free PMC article.

7

The Asthma Mobile Health Study, a large-scale clinical observational study using ResearchKit.

Chan YY, Wang P, Rogers L, Tignor N, Zweig M, Hershman SG, Genes N, Scott ER, Krock E, Badgeley M, Edgar R, Violante S, Wright R, Powell CA, Dudley JT, Schadt EE. Chan YY, et al. Among authors: schadt ee. Nat Biotechnol. 2017 Apr;35(4):354-362. doi: 10.1038/nbt.3826. Epub 2017 Mar 13. Nat Biotechnol. 2017. PMID: 28288104 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: schadt ee. 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

The asthma mobile health study, smartphone data collected using ResearchKit.

Chan YY, Bot BM, Zweig M, Tignor N, Ma W, Suver C, Cedeno R, Scott ER, Gregory Hershman S, Schadt EE, Wang P. Chan YY, et al. Among authors: schadt ee. Sci Data. 2018 May 22;5:180096. doi: 10.1038/sdata.2018.96. Sci Data. 2018. PMID: 29786695 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: schadt ee. 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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