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lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements.
Gordon MG, Inoue F, Martin B, Schubach M, Agarwal V, Whalen S, Feng S, Zhao J, Ashuach T, Ziffra R, Kreimer A, Georgakopoulos-Soares I, Yosef N, Ye CJ, Pollard KS, Shendure J, Kircher M, Ahituv N. Gordon MG, et al. Among authors: schubach m. Nat Protoc. 2020 Aug;15(8):2387-2412. doi: 10.1038/s41596-020-0333-5. Epub 2020 Jul 8. Nat Protoc. 2020. PMID: 32641802 Free PMC article.
Next-generation diagnostics and disease-gene discovery with the Exomiser.
Smedley D, Jacobsen JO, Jäger M, Köhler S, Holtgrewe M, Schubach M, Siragusa E, Zemojtel T, Buske OJ, Washington NL, Bone WP, Haendel MA, Robinson PN. Smedley D, et al. Among authors: schubach m. Nat Protoc. 2015 Dec;10(12):2004-15. doi: 10.1038/nprot.2015.124. Epub 2015 Nov 12. Nat Protoc. 2015. PMID: 26562621 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: schubach m. 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.
Author Correction: lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements.
Gordon MG, Inoue F, Martin B, Schubach M, Agarwal V, Whalen S, Feng S, Zhao J, Ashuach T, Ziffra R, Kreimer A, Georgakopoulos-Soares I, Yosef N, Ye CJ, Pollard KS, Shendure J, Kircher M, Ahituv N. Gordon MG, et al. Among authors: schubach m. Nat Protoc. 2021 Jul;16(7):3736. doi: 10.1038/s41596-020-00422-z. Nat Protoc. 2021. PMID: 33128032 No abstract available.
The Regulatory Mendelian Mutation score for GRCh38.
Schubach M, Nazaretyan L, Kircher M. Schubach M, et al. Gigascience. 2022 Dec 28;12:giad024. doi: 10.1093/gigascience/giad024. Epub 2023 Apr 21. Gigascience. 2022. PMID: 37083939 Free PMC article.
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.
Smedley D, Schubach M, Jacobsen JOB, Köhler S, Zemojtel T, Spielmann M, Jäger M, Hochheiser H, Washington NL, McMurry JA, Haendel MA, Mungall CJ, Lewis SE, Groza T, Valentini G, Robinson PN. Smedley D, et al. Among authors: schubach m. Am J Hum Genet. 2016 Sep 1;99(3):595-606. doi: 10.1016/j.ajhg.2016.07.005. Epub 2016 Aug 25. Am J Hum Genet. 2016. PMID: 27569544 Free PMC article.
36 results