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Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.

Dines JN, Liu YJ, Neufeld-Kaiser W, Sawyer T, Ishak GE, Tully HM, Racobaldo M, Sanchez-Valle A, Disteche CM, Juusola J, Torti E, McWalter K, Doherty D, Dipple KM.

Am J Med Genet A. 2019 Jul 11. doi: 10.1002/ajmg.a.61281. [Epub ahead of print]


Sexual Inequality in the Cancer Cell.

Arnold AP, Disteche CM.

Cancer Res. 2018 Oct 1;78(19):5504-5505. doi: 10.1158/0008-5472.CAN-18-2219.


X-Chromosome Inactivation and Escape from X Inactivation in Mouse.

Ma W, Bonora G, Berletch JB, Deng X, Noble WS, Disteche CM.

Methods Mol Biol. 2018;1861:205-219. doi: 10.1007/978-1-4939-8766-5_15.


A Single-Cell Atlas of In Vivo Mammalian Chromatin Accessibility.

Cusanovich DA, Hill AJ, Aghamirzaie D, Daza RM, Pliner HA, Berletch JB, Filippova GN, Huang X, Christiansen L, DeWitt WS, Lee C, Regalado SG, Read DF, Steemers FJ, Disteche CM, Trapnell C, Shendure J.

Cell. 2018 Aug 23;174(5):1309-1324.e18. doi: 10.1016/j.cell.2018.06.052. Epub 2018 Aug 2.


Orientation-dependent Dxz4 contacts shape the 3D structure of the inactive X chromosome.

Bonora G, Deng X, Fang H, Ramani V, Qiu R, Berletch JB, Filippova GN, Duan Z, Shendure J, Noble WS, Disteche CM.

Nat Commun. 2018 Apr 13;9(1):1445. doi: 10.1038/s41467-018-03694-y.


Using DNase Hi-C techniques to map global and local three-dimensional genome architecture at high resolution.

Ma W, Ay F, Lee C, Gulsoy G, Deng X, Cook S, Hesson J, Cavanaugh C, Ware CB, Krumm A, Shendure J, Blau CA, Disteche CM, Noble WS, Duan Z.

Methods. 2018 Jun 1;142:59-73. doi: 10.1016/j.ymeth.2018.01.014. Epub 2018 Jan 31.


Structural aspects of the inactive X chromosome.

Bonora G, Disteche CM.

Philos Trans R Soc Lond B Biol Sci. 2017 Nov 5;372(1733). pii: 20160357. doi: 10.1098/rstb.2016.0357. Review.


Allele-specific non-CG DNA methylation marks domains of active chromatin in female mouse brain.

Keown CL, Berletch JB, Castanon R, Nery JR, Disteche CM, Ecker JR, Mukamel EA.

Proc Natl Acad Sci U S A. 2017 Apr 4;114(14):E2882-E2890. doi: 10.1073/pnas.1611905114. Epub 2017 Mar 20.


Massively multiplex single-cell Hi-C.

Ramani V, Deng X, Qiu R, Gunderson KL, Steemers FJ, Disteche CM, Noble WS, Duan Z, Shendure J.

Nat Methods. 2017 Mar;14(3):263-266. doi: 10.1038/nmeth.4155. Epub 2017 Jan 30.


Mapping 3D genome architecture through in situ DNase Hi-C.

Ramani V, Cusanovich DA, Hause RJ, Ma W, Qiu R, Deng X, Blau CA, Disteche CM, Noble WS, Shendure J, Duan Z.

Nat Protoc. 2016 Nov;11(11):2104-21. doi: 10.1038/nprot.2016.126. Epub 2016 Sep 29.


Dosage compensation of the sex chromosomes and autosomes.

Disteche CM.

Semin Cell Dev Biol. 2016 Aug;56:9-18. doi: 10.1016/j.semcdb.2016.04.013. Epub 2016 Apr 22. Review.


Identification of genes escaping X inactivation by allelic expression analysis in a novel hybrid mouse model.

Berletch JB, Ma W, Yang F, Shendure J, Noble WS, Disteche CM, Deng X.

Data Brief. 2015 Nov 3;5:761-9. doi: 10.1016/j.dib.2015.10.033. eCollection 2015 Dec.


X-chromosome inactivation and escape.

Disteche CM, Berletch JB.

J Genet. 2015 Dec;94(4):591-9. Review.


Bipartite structure of the inactive mouse X chromosome.

Deng X, Ma W, Ramani V, Hill A, Yang F, Ay F, Berletch JB, Blau CA, Shendure J, Duan Z, Noble WS, Disteche CM.

Genome Biol. 2015 Aug 7;16:152. doi: 10.1186/s13059-015-0728-8.


The lncRNA Firre anchors the inactive X chromosome to the nucleolus by binding CTCF and maintains H3K27me3 methylation.

Yang F, Deng X, Ma W, Berletch JB, Rabaia N, Wei G, Moore JM, Filippova GN, Xu J, Liu Y, Noble WS, Shendure J, Disteche CM.

Genome Biol. 2015 Mar 12;16:52. doi: 10.1186/s13059-015-0618-0.


Escape from X inactivation varies in mouse tissues.

Berletch JB, Ma W, Yang F, Shendure J, Noble WS, Disteche CM, Deng X.

PLoS Genet. 2015 Mar 18;11(3):e1005079. doi: 10.1371/journal.pgen.1005079. eCollection 2015 Mar.


Fine-scale chromatin interaction maps reveal the cis-regulatory landscape of human lincRNA genes.

Ma W, Ay F, Lee C, Gulsoy G, Deng X, Cook S, Hesson J, Cavanaugh C, Ware CB, Krumm A, Shendure J, Blau CA, Disteche CM, Noble WS, Duan Z.

Nat Methods. 2015 Jan;12(1):71-8. doi: 10.1038/nmeth.3205. Epub 2014 Dec 1.


X chromosome regulation: diverse patterns in development, tissues and disease.

Deng X, Berletch JB, Nguyen DK, Disteche CM.

Nat Rev Genet. 2014 Jun;15(6):367-78. doi: 10.1038/nrg3687. Epub 2014 Apr 15. Review.


How to correct chromosomal trisomy.

Disteche CM.

Cell Res. 2013 Dec;23(12):1345-6. doi: 10.1038/cr.2013.135. Epub 2013 Oct 1.


Female bias in Rhox6 and 9 regulation by the histone demethylase KDM6A.

Berletch JB, Deng X, Nguyen DK, Disteche CM.

PLoS Genet. 2013 May;9(5):e1003489. doi: 10.1371/journal.pgen.1003489. Epub 2013 May 2.


Mammalian X upregulation is associated with enhanced transcription initiation, RNA half-life, and MOF-mediated H4K16 acetylation.

Deng X, Berletch JB, Ma W, Nguyen DK, Hiatt JB, Noble WS, Shendure J, Disteche CM.

Dev Cell. 2013 Apr 15;25(1):55-68. doi: 10.1016/j.devcel.2013.01.028. Epub 2013 Mar 21.


Y Chromosome Infertility.

Silber SJ, Disteche CM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2002 Oct 31 [updated 2012 Oct 18].


Dosage compensation of the sex chromosomes.

Disteche CM.

Annu Rev Genet. 2012;46:537-60. doi: 10.1146/annurev-genet-110711-155454. Epub 2012 Sep 4. Review.


Loss of maternal CTCF is associated with peri-implantation lethality of Ctcf null embryos.

Moore JM, Rabaia NA, Smith LE, Fagerlie S, Gurley K, Loukinov D, Disteche CM, Collins SJ, Kemp CJ, Lobanenkov VV, Filippova GN.

PLoS One. 2012;7(4):e34915. doi: 10.1371/journal.pone.0034915. Epub 2012 Apr 20.


Evidence for compensatory upregulation of expressed X-linked genes in mammals, Caenorhabditis elegans and Drosophila melanogaster.

Deng X, Hiatt JB, Nguyen DK, Ercan S, Sturgill D, Hillier LW, Schlesinger F, Davis CA, Reinke VJ, Gingeras TR, Shendure J, Waterston RH, Oliver B, Lieb JD, Disteche CM.

Nat Genet. 2011 Oct 23;43(12):1179-85. doi: 10.1038/ng.948.


Genes that escape from X inactivation.

Berletch JB, Yang F, Xu J, Carrel L, Disteche CM.

Hum Genet. 2011 Aug;130(2):237-45. doi: 10.1007/s00439-011-1011-z. Epub 2011 May 26. Review.


Clcn4-2 genomic structure differs between the X locus in Mus spretus and the autosomal locus in Mus musculus: AT motif enrichment on the X.

Nguyen DK, Yang F, Kaul R, Alkan C, Antonellis A, Friery KF, Zhu B, de Jong PJ, Disteche CM.

Genome Res. 2011 Mar;21(3):402-9. doi: 10.1101/gr.108563.110. Epub 2011 Jan 31.


Genome-wide distribution of macroH2A1 histone variants in mouse liver chromatin.

Changolkar LN, Singh G, Cui K, Berletch JB, Zhao K, Disteche CM, Pehrson JR.

Mol Cell Biol. 2010 Dec;30(23):5473-83. doi: 10.1128/MCB.00518-10. Epub 2010 Oct 11.


Escape from X inactivation in mice and humans.

Berletch JB, Yang F, Disteche CM.

Genome Biol. 2010;11(6):213. doi: 10.1186/gb-2010-11-6-213. Epub 2010 Jun 24. Review.


Global survey of escape from X inactivation by RNA-sequencing in mouse.

Yang F, Babak T, Shendure J, Disteche CM.

Genome Res. 2010 May;20(5):614-22. doi: 10.1101/gr.103200.109. Epub 2010 Apr 2.


Genomic responses to abnormal gene dosage: the X chromosome improved on a common strategy.

Deng X, Disteche CM.

PLoS Biol. 2010 Feb 23;8(2):e1000318. doi: 10.1371/journal.pbio.1000318. No abstract available.


Dosage regulation of the active X chromosome in human triploid cells.

Deng X, Nguyen DK, Hansen RS, Van Dyke DL, Gartler SM, Disteche CM.

PLoS Genet. 2009 Dec;5(12):e1000751. doi: 10.1371/journal.pgen.1000751. Epub 2009 Dec 4.


Sex-specific expression of the X-linked histone demethylase gene Jarid1c in brain.

Xu J, Deng X, Disteche CM.

PLoS One. 2008 Jul 2;3(7):e2553. doi: 10.1371/journal.pone.0002553.


CTCF physically links cohesin to chromatin.

Rubio ED, Reiss DJ, Welcsh PL, Disteche CM, Filippova GN, Baliga NS, Aebersold R, Ranish JA, Krumm A.

Proc Natl Acad Sci U S A. 2008 Jun 17;105(24):8309-14. doi: 10.1073/pnas.0801273105. Epub 2008 Jun 11.


The not-so-silent X.

Disteche CM.

Nat Genet. 2008 Jun;40(6):689-90. doi: 10.1038/ng0608-689. No abstract available.


Sex-specific differences in expression of histone demethylases Utx and Uty in mouse brain and neurons.

Xu J, Deng X, Watkins R, Disteche CM.

J Neurosci. 2008 Apr 23;28(17):4521-7. doi: 10.1523/JNEUROSCI.5382-07.2008.


Chromosome banding techniques.

Schreck RR, Distèche CM.

Curr Protoc Hum Genet. 2001 May;Chapter 4:Unit4.2. doi: 10.1002/0471142905.hg0402s00.


ISCN standard idiograms.

Schreck RR, Distèche CM, Adler D.

Curr Protoc Hum Genet. 2001 May;Appendix 4:Appendix 4B. doi: 10.1002/0471142905.hga04bs18.


Does gene dosage really matter?

Graves JA, Disteche CM.

J Biol. 2007;6(1):1. Review.


Decoding dosage compensation.

Deng X, Disteche CM.

Genome Biol. 2007;8(2):204. Review.


High expression of the mammalian X chromosome in brain.

Nguyen DK, Disteche CM.

Brain Res. 2006 Dec 18;1126(1):46-9. Epub 2006 Sep 15. Review.


Sex differences in brain expression of X- and Y-linked genes.

Xu J, Disteche CM.

Brain Res. 2006 Dec 18;1126(1):50-5. Epub 2006 Sep 7. Review.


Dosage compensation in mammals: fine-tuning the expression of the X chromosome.

Heard E, Disteche CM.

Genes Dev. 2006 Jul 15;20(14):1848-67. Review.


A balancing act between the X chromosome and the autosomes.

Cheng MK, Disteche CM.

J Biol. 2006;5(1):2. Epub 2006 Feb 16. Review.


Dosage compensation of the active X chromosome in mammals.

Nguyen DK, Disteche CM.

Nat Genet. 2006 Jan;38(1):47-53. Epub 2005 Dec 11.


Isolation, X location and activity of the marsupial homologue of SLC16A2, an XIST-flanking gene in eutherian mammals.

Koina E, Wakefield MJ, Walcher C, Disteche CM, Whitehead S, Ross M, Marshall Graves JA.

Chromosome Res. 2005;13(7):687-98. Epub 2005 Oct 24.


Evidence for de novo imprinted X-chromosome inactivation independent of meiotic inactivation in mice.

Okamoto I, Arnaud D, Le Baccon P, Otte AP, Disteche CM, Avner P, Heard E.

Nature. 2005 Nov 17;438(7066):369-73. Epub 2005 Oct 16.


Boundaries between chromosomal domains of X inactivation and escape bind CTCF and lack CpG methylation during early development.

Filippova GN, Cheng MK, Moore JM, Truong JP, Hu YJ, Nguyen DK, Tsuchiya KD, Disteche CM.

Dev Cell. 2005 Jan;8(1):31-42.


Silence of the fathers: early X inactivation.

Cheng MK, Disteche CM.

Bioessays. 2004 Aug;26(8):821-4.


TSPY, the candidate gonadoblastoma gene on the human Y chromosome, has a widely expressed homologue on the X - implications for Y chromosome evolution.

Delbridge ML, Longepied G, Depetris D, Mattei MG, Disteche CM, Marshall Graves JA, Mitchell MJ.

Chromosome Res. 2004;12(4):345-56.


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