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Items: 13

1.

Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk.

Castel SE, Cervera A, Mohammadi P, Aguet F, Reverter F, Wolman A, Guigo R, Iossifov I, Vasileva A, Lappalainen T.

Nat Genet. 2018 Sep;50(9):1327-1334. doi: 10.1038/s41588-018-0192-y. Epub 2018 Aug 20.

PMID:
30127527
2.

Corrigendum: Landscape of X chromosome inactivation across human tissues.

Tukiainen T, Villani AC, Yen A, Rivas MA, Marshall JL, Satija R, Aguirre M, Gauthier L, Fleharty M, Kirby A, Cummings BB, Castel SE, Karczewski KJ, Aguet F, Byrnes A, Consortium G, Lappalainen T, Regev A, Ardlie KG, Hacohen N, MacArthur DG.

Nature. 2018 Mar 7;555(7695):274. doi: 10.1038/nature25993.

PMID:
29517003
3.

Landscape of X chromosome inactivation across human tissues.

Tukiainen T, Villani AC, Yen A, Rivas MA, Marshall JL, Satija R, Aguirre M, Gauthier L, Fleharty M, Kirby A, Cummings BB, Castel SE, Karczewski KJ, Aguet F, Byrnes A; GTEx Consortium; Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group; Statistical Methods groups—Analysis Working Group; Enhancing GTEx (eGTEx) groups; NIH Common Fund; NIH/NCI; NIH/NHGRI; NIH/NIMH; NIH/NIDA; Biospecimen Collection Source Site—NDRI; Biospecimen Collection Source Site—RPCI; Biospecimen Core Resource—VARI; Brain Bank Repository—University of Miami Brain Endowment Bank; Leidos Biomedical—Project Management; ELSI Study; Genome Browser Data Integration &Visualization—EBI; Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz, Lappalainen T, Regev A, Ardlie KG, Hacohen N, MacArthur DG.

Nature. 2017 Oct 11;550(7675):244-248. doi: 10.1038/nature24265. Erratum in: Nature. 2018 Mar 7;555(7695):274.

4.

Quantifying the regulatory effect size of cis-acting genetic variation using allelic fold change.

Mohammadi P, Castel SE, Brown AA, Lappalainen T.

Genome Res. 2017 Nov;27(11):1872-1884. doi: 10.1101/gr.216747.116. Epub 2017 Oct 11.

5.

Genetic regulatory effects modified by immune activation contribute to autoimmune disease associations.

Kim-Hellmuth S, Bechheim M, Pütz B, Mohammadi P, Nédélec Y, Giangreco N, Becker J, Kaiser V, Fricker N, Beier E, Boor P, Castel SE, Nöthen MM, Barreiro LB, Pickrell JK, Müller-Myhsok B, Lappalainen T, Schumacher J, Hornung V.

Nat Commun. 2017 Aug 16;8(1):266. doi: 10.1038/s41467-017-00366-1.

6.

The Conserved RNA Binding Cyclophilin, Rct1, Regulates Small RNA Biogenesis and Splicing Independent of Heterochromatin Assembly.

Chang AY, Castel SE, Ernst E, Kim HS, Martienssen RA.

Cell Rep. 2017 Jun 20;19(12):2477-2489. doi: 10.1016/j.celrep.2017.05.086.

7.

Rare variant phasing and haplotypic expression from RNA sequencing with phASER.

Castel SE, Mohammadi P, Chung WK, Shen Y, Lappalainen T.

Nat Commun. 2016 Sep 8;7:12817. doi: 10.1038/ncomms12817.

8.

Dicer in action at replication-transcription collisions.

Ren J, Castel SE, Martienssen RA.

Mol Cell Oncol. 2015 Mar 9;2(3):e991224. doi: 10.4161/23723556.2014.991224. eCollection 2015 Jul-Sep.

9.

Tools and best practices for data processing in allelic expression analysis.

Castel SE, Levy-Moonshine A, Mohammadi P, Banks E, Lappalainen T.

Genome Biol. 2015 Sep 17;16:195. doi: 10.1186/s13059-015-0762-6.

10.

Dicer promotes transcription termination at sites of replication stress to maintain genome stability.

Castel SE, Ren J, Bhattacharjee S, Chang AY, Sánchez M, Valbuena A, Antequera F, Martienssen RA.

Cell. 2014 Oct 23;159(3):572-83. doi: 10.1016/j.cell.2014.09.031. Epub 2014 Oct 16.

11.

RNA interference in the nucleus: roles for small RNAs in transcription, epigenetics and beyond.

Castel SE, Martienssen RA.

Nat Rev Genet. 2013 Feb;14(2):100-12. doi: 10.1038/nrg3355. Review.

12.

RNAi promotes heterochromatic silencing through replication-coupled release of RNA Pol II.

Zaratiegui M, Castel SE, Irvine DV, Kloc A, Ren J, Li F, de Castro E, Marín L, Chang AY, Goto D, Cande WZ, Antequera F, Arcangioli B, Martienssen RA.

Nature. 2011 Oct 16;479(7371):135-8. doi: 10.1038/nature10501.

13.

Structural basis of the oxidative activation of the carboxysomal gamma-carbonic anhydrase, CcmM.

Peña KL, Castel SE, de Araujo C, Espie GS, Kimber MS.

Proc Natl Acad Sci U S A. 2010 Feb 9;107(6):2455-60. doi: 10.1073/pnas.0910866107. Epub 2010 Jan 25.

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