Selected publications

1. Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS,Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nat Genet. 2017 Feb;49(2):249-255. doi: 10.1038/ng.3765. Epub 2017 Jan 9. PMID: 28067911
2. Jansz N, Chen K, Murphy JM, Blewitt ME. The Epigenetic Regulator SMCHD1 in Development and Disease. Trends Genet. 2017 Apr;33(4):233-243. doi:10.1016/j.tig.2017.01.007. Epub 2017 Feb 20. Review. PMID: 28222895
3. Keniry A, Gearing LJ, Jansz N, Liu J, Holik AZ, Hickey PF, Kinkel SA, Moore DL, Breslin K, Chen K, Liu R, Phillips C, Pakusch M, Biben C, Sheridan JM, Kile BT, Carmichael C, Ritchie ME, Hilton DJ, Blewitt ME. Setdb1-mediated H3K9 methylation is enriched on the inactive X and plays a role in its epigenetic silencing. Epigenetics Chromatin. 2016 May 18;9:16. doi:10.1186/s13072-016-0064-6. eCollection 2016. PMID: 27195021; PubMed Central PMCID: PMC4870784
4. Chen K, Dobson RC, Lucet IS, Young SN, Pearce FG, Blewitt ME, Murphy JM. The epigenetic regulator Smchd1 contains a functional GHKL-type ATPase domain. Biochem J. 2016 Jun 15;473(12):1733-44. doi: 10.1042/BCJ20160189. Epub 2016 Apr 8.  PMID: 27059856
5. Chen K, Czabotar P, Blewitt ME* and Murphy JM*. The hinge domain of the epigenetic repressor, Smchd1, adopts an unconventional homodimeric configuration. Biochem J. 2016 Mar 15;473(6):733-42 * Contributed equally. PMID: 6733688  
6. Chen K, Hu J, Moore DL, Liu R, Kessans SA, Breslin K, Lucet IS, Keniry A, Leong HS, Parish CL, Hilton DJ, Lemmers RJ, van der Maarel SM, Czabotar PE, Dobson RC, Ritchie ME, Kay GF, Murphy JM, Blewitt ME. Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation. Proc Natl Acad Sci U S A. 2015 Jul 7. PMID: 26091879
7. Kinkel SA, Galeev R, Flensburg C, Keniry A, Breslin K, Gilan O, Lee S, Liu J, Chen K, Gearing LJ, Moore DL, Alexander WS, Dawson M, Majewski IJ, Oshlack A, Larsson J, Blewitt ME. Jarid2 regulates hematopoietic stem cell function by acting with polycomb repressive complex 2. Blood. 2015 Mar 19. PMID: 25645357
8. Leong HS, Chen K, Hu Y, Lee S, Corbin J, Pakusch M, Murphy JM, Majewski IJ, Smyth GK, Alexander WS, Hilton DJ, Blewitt ME. Epigenetic regulator Smchd1 functions as a tumor suppressor. Cancer Res. 2013 Mar 1;73(5):1591-9. PMID: 23269277
9. Majewski IJ, Ritchie ME, Phipson B, Corbin J, Pakusch M, Ebert A, Busslinger M, Koseki H, Hu Y, Smyth GK, Alexander WS, Hilton DJ, Blewitt ME. Opposing roles of polycomb repressive complexes in hematopoietic stem and progenitor cells. Blood. 2010 Aug 5;116(5):731-9. PMID: 20445021
10. Blewitt ME, Gendrel AV, Pang Z, Sparrow DB, Whitelaw N, Craig JM, Apedaile A, Hilton DJ, Dunwoodie SL, Brockdorff N, Kay GF, Whitelaw E. SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation. Nat Genet. 2008 May;40(5):663-9. PMID: 18425126

Further publications