Kircher M - Search Results

1

Massively parallel characterization of transcriptional regulatory elements in three diverse human cell types.

Agarwal V, Inoue F, Schubach M, Martin BK, Dash PM, Zhang Z, Sohota A, Noble WS, Yardimci GG, Kircher M, Shendure J, Ahituv N. Agarwal V, et al. Among authors: kircher m. bioRxiv [Preprint]. 2023 Mar 6:2023.03.05.531189. doi: 10.1101/2023.03.05.531189. bioRxiv. 2023. PMID: 36945371 Free PMC article. Preprint.

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

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

4

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.

5

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.

Wheeler PG, Ng BG, Sanford L, Sutton VR, Bartholomew DW, Pastore MT, Bamshad MJ, Kircher M, Buckingham KJ, Nickerson DA, Shendure J, Freeze HH. Wheeler PG, et al. Among authors: kircher m. Am J Med Genet A. 2016 Dec;170(12):3165-3171. doi: 10.1002/ajmg.a.37875. Epub 2016 Aug 2. Am J Med Genet A. 2016. PMID: 27480077 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

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.

Simon MT, Ng BG, Friederich MW, Wang RY, Boyer M, Kircher M, Collard R, Buckingham KJ, Chang R, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics; Van Hove JLK, Freeze HH, Abdenur JE. Simon MT, et al. Among authors: kircher m. Mitochondrion. 2017 May;34:84-90. doi: 10.1016/j.mito.2017.02.004. Epub 2017 Feb 12. Mitochondrion. 2017. PMID: 28216230 Free PMC article.

8

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.

9

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.

10

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.

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