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893 results

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Assessing predictions of the impact of variants on splicing in CAGI5.
Mount SM, Avsec Ž, Carmel L, Casadio R, Çelik MH, Chen K, Cheng J, Cohen NE, Fairbrother WG, Fenesh T, Gagneur J, Gotea V, Holzer T, Lin CF, Martelli PL, Naito T, Nguyen TYD, Savojardo C, Unger R, Wang R, Yang Y, Zhao H. Mount SM, et al. Among authors: unger r. Hum Mutat. 2019 Sep;40(9):1215-1224. doi: 10.1002/humu.23869. Epub 2019 Aug 19. Hum Mutat. 2019. PMID: 31301154 Free PMC article.
Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.
Daneshjou R, Wang Y, Bromberg Y, Bovo S, Martelli PL, Babbi G, Lena PD, Casadio R, Edwards M, Gifford D, Jones DT, Sundaram L, Bhat RR, Li X, Pal LR, Kundu K, Yin Y, Moult J, Jiang Y, Pejaver V, Pagel KA, Li B, Mooney SD, Radivojac P, Shah S, Carraro M, Gasparini A, Leonardi E, Giollo M, Ferrari C, Tosatto SCE, Bachar E, Azaria JR, Ofran Y, Unger R, Niroula A, Vihinen M, Chang B, Wang MH, Franke A, Petersen BS, Pirooznia M, Zandi P, McCombie R, Potash JB, Altman RB, Klein TE, Hoskins RA, Repo S, Brenner SE, Morgan AA. Daneshjou R, et al. Among authors: unger r. Hum Mutat. 2017 Sep;38(9):1182-1192. doi: 10.1002/humu.23280. Epub 2017 Jul 7. Hum Mutat. 2017. PMID: 28634997 Free PMC article.
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: unger r. 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.
The large repertoire of 2'-O-methylation guided by C/D snoRNAs on Trypanosoma brucei rRNA.
Rajan KS, Zhu Y, Adler K, Doniger T, Cohen-Chalamish S, Srivastava A, Shalev-Benami M, Matzov D, Unger R, Tschudi C, Günzl A, Carmichael GG, Michaeli S. Rajan KS, et al. Among authors: unger r. RNA Biol. 2020 Jul;17(7):1018-1039. doi: 10.1080/15476286.2020.1750842. Epub 2020 Apr 21. RNA Biol. 2020. PMID: 32250712 Free PMC article.
Pooled analysis of p53 mutations in hematological malignancies.
Prokocimer M, Unger R, Rennert HS, Rotter V, Rennert G. Prokocimer M, et al. Among authors: unger r. Hum Mutat. 1998;12(1):4-18. doi: 10.1002/(SICI)1098-1004(1998)12:1<4::AID-HUMU2>3.0.CO;2-G. Hum Mutat. 1998. PMID: 9633814 Review.
Swaps in protein sequences.
Fliess A, Motro B, Unger R. Fliess A, et al. Among authors: unger r. Proteins. 2002 Aug 1;48(2):377-87. doi: 10.1002/prot.10156. Proteins. 2002. PMID: 12112704 Free article.
893 results