Kircher M - Search Results

1

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: kircher 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.

2

A general framework for estimating the relative pathogenicity of human genetic variants.

Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. Kircher M, et al. Nat Genet. 2014 Mar;46(3):310-5. doi: 10.1038/ng.2892. Epub 2014 Feb 2. Nat Genet. 2014. PMID: 24487276 Free PMC article.

3

Characterization of ancient and modern genomes by SNP detection and phylogenomic and metagenomic analysis using PALEOMIX.

Schubert M, Ermini L, Der Sarkissian C, Jónsson H, Ginolhac A, Schaefer R, Martin MD, Fernández R, Kircher M, McCue M, Willerslev E, Orlando L. Schubert M, et al. Among authors: kircher m. Nat Protoc. 2014 May;9(5):1056-82. doi: 10.1038/nprot.2014.063. Epub 2014 Apr 10. Nat Protoc. 2014. PMID: 24722405

4

Running spell-check to identify regulatory variants.

Kircher M, Shendure J. Kircher M, et al. Nat Genet. 2015 Aug;47(8):853-5. doi: 10.1038/ng.3364. Nat Genet. 2015. PMID: 26220134

5

Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin.

Snyder MW, Kircher M, Hill AJ, Daza RM, Shendure J. Snyder MW, et al. Among authors: kircher m. Cell. 2016 Jan 14;164(1-2):57-68. doi: 10.1016/j.cell.2015.11.050. Cell. 2016. PMID: 26771485 Free PMC article.

6

A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity.

Inoue F, Kircher M, Martin B, Cooper GM, Witten DM, McManus MT, Ahituv N, Shendure J. Inoue F, et al. Among authors: kircher m. Genome Res. 2017 Jan;27(1):38-52. doi: 10.1101/gr.212092.116. Epub 2016 Nov 9. Genome Res. 2017. PMID: 27831498 Free PMC article.

7

Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative.

Johnsen JM, Fletcher SN, Huston H, Roberge S, Martin BK, Kircher M, Josephson NC, Shendure J, Ruuska S, Koerper MA, Morales J, Pierce GF, Aschman DJ, Konkle BA. Johnsen JM, et al. Among authors: kircher m. Blood Adv. 2017 May 18;1(13):824-834. doi: 10.1182/bloodadvances.2016002923. eCollection 2017 May 23. Blood Adv. 2017. PMID: 29296726 Free PMC article.

8

Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.

Sukenik Halevy R, Chien HC, Heinz B, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Kircher M, Ahituv N. Sukenik Halevy R, et al. Among authors: kircher m. Hum Mutat. 2018 Jun;39(6):811-815. doi: 10.1002/humu.23417. Epub 2018 Mar 22. Hum Mutat. 2018. PMID: 29524275 Free PMC article.

9

Corrigendum: A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity.

Inoue F, Kircher M, Martin B, Cooper GM, Witten DM, McManus MT, Ahituv N, Shendure J. Inoue F, et al. Among authors: kircher m. Genome Res. 2018 May;28(5):766.3. doi: 10.1101/gr.237321.118. Genome Res. 2018. PMID: 29717003 Free PMC article. No abstract available.

10

Multiplex assessment of protein variant abundance by massively parallel sequencing.

Matreyek KA, Starita LM, Stephany JJ, Martin B, Chiasson MA, Gray VE, Kircher M, Khechaduri A, Dines JN, Hause RJ, Bhatia S, Evans WE, Relling MV, Yang W, Shendure J, Fowler DM. Matreyek KA, et al. Among authors: kircher m. Nat Genet. 2018 Jun;50(6):874-882. doi: 10.1038/s41588-018-0122-z. Epub 2018 May 21. Nat Genet. 2018. PMID: 29785012 Free PMC article.

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