Difference between revisions of "Publications"

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* '''[https://onlinelibrary.wiley.com/doi/full/10.1002/humu.23797 Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay.]''' Shigaki D, Adato O, Adhikar A, Dong S, Hawkins-Hooker A, Inoue F, Juven-Gershon T, Kenlay H, Martin B, Patra A, Penzar D, Schubach M, Xiong C, Yan Z, Boyle A, Kreimer A, Kulakovskiy IV, Reid J, Unger R, Yosef N, Shendure J, Ahituv N, Kircher M, and Beer MA.  Human Mutation 2019.
 
* '''[https://onlinelibrary.wiley.com/doi/full/10.1002/humu.23797 Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay.]''' Shigaki D, Adato O, Adhikar A, Dong S, Hawkins-Hooker A, Inoue F, Juven-Gershon T, Kenlay H, Martin B, Patra A, Penzar D, Schubach M, Xiong C, Yan Z, Boyle A, Kreimer A, Kulakovskiy IV, Reid J, Unger R, Yosef N, Shendure J, Ahituv N, Kircher M, and Beer MA.  Human Mutation 2019.
  
* '''[https://stm.sciencemag.org/content/11/497/eaaw0790.abstract , Epigenetic activation and memory at a novel TGFβ2 enhancer in systemic sclerosis fibroblasts.]''' Shin JY, Beckett JD, Shah A, McMahan Z, Paik J, Sampedro MM, MacFarlane EG, Beer MA, Warren D, Wigley FM, and Dietz HC.  Science Translational Medicine 2019.
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* '''[https://stm.sciencemag.org/content/11/497/eaaw0790.abstract Epigenetic activation and memory at a novel TGFβ2 enhancer in systemic sclerosis fibroblasts.]''' Shin JY, Beckett JD, Shah A, McMahan Z, Paik J, Sampedro MM, MacFarlane EG, Beer MA, Warren D, Wigley FM, and Dietz HC.  Science Translational Medicine 2019.
  
 
* '''[https://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1006625 Local epigenomic state cannot discriminate interacting and non-interacting enhancer–promoter pairs with high accuracy.]''' Xi, W and Beer, MA.  PLOS Comp Biol 2018.
 
* '''[https://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1006625 Local epigenomic state cannot discriminate interacting and non-interacting enhancer–promoter pairs with high accuracy.]''' Xi, W and Beer, MA.  PLOS Comp Biol 2018.

Revision as of 14:37, 5 August 2019

  • A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, MacDonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attié-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N. 2009. Nat Genet. 41:739-45.



For a full list including my prior work in simulations of plasma turbulence, see my google scholar page.