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Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay.
Shigaki D, Adato O, Adhikari AN, Dong S, Hawkins-Hooker A, Inoue F, Juven-Gershon T, Kenlay H, Martin B, Patra A, Penzar DD, Schubach M, Xiong C, Yan Z, Boyle AP, Kreimer A, Kulakovskiy IV, Reid J, Unger R, Yosef N, Shendure J, Ahituv N, Kircher M, Beer MA. Shigaki D, et al. Among authors: ahituv n. Hum Mutat. 2019 Sep;40(9):1280-1291. doi: 10.1002/humu.23797. Epub 2019 Jun 23. Hum Mutat. 2019. PMID: 31106481 Free PMC article.
Medical sequencing at the extremes of human body mass.
Ahituv N, Kavaslar N, Schackwitz W, Ustaszewska A, Martin J, Hebert S, Doelle H, Ersoy B, Kryukov G, Schmidt S, Yosef N, Ruppin E, Sharan R, Vaisse C, Sunyaev S, Dent R, Cohen J, McPherson R, Pennacchio LA. Ahituv N, et al. Am J Hum Genet. 2007 Apr;80(4):779-91. doi: 10.1086/513471. Epub 2007 Mar 5. Am J Hum Genet. 2007. PMID: 17357083 Free PMC article.
Massively parallel functional dissection of mammalian enhancers in vivo.
Patwardhan RP, Hiatt JB, Witten DM, Kim MJ, Smith RP, May D, Lee C, Andrie JM, Lee SI, Cooper GM, Ahituv N, Pennacchio LA, Shendure J. Patwardhan RP, et al. Among authors: ahituv n. Nat Biotechnol. 2012 Feb 26;30(3):265-70. doi: 10.1038/nbt.2136. Nat Biotechnol. 2012. PMID: 22371081 Free PMC article.
Functional characterization of SIM1-associated enhancers.
Kim MJ, Oksenberg N, Hoffmann TJ, Vaisse C, Ahituv N. Kim MJ, et al. Among authors: ahituv n. Hum Mol Genet. 2014 Apr 1;23(7):1700-8. doi: 10.1093/hmg/ddt559. Epub 2013 Nov 7. Hum Mol Genet. 2014. PMID: 24203700 Free PMC article.
162 results