Center-Authored Papers

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Block, GJ, Petek LM, Narayanan D, Amell AM, Moore JM, Rabaia NA, Tyler A, van der Maarel SM, Tawil R, Filippova GN et al..  2012.  Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production.. PloS one. 7(4):e35532. Abstract
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Lemmers, RJLF, Tawil R, Petek LM, Balog J, Block GJ, Santen GWE, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR et al..  2012.  Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.. Nature genetics. 44(12):1370-4. Abstract
Libby, RT, Hagerman KA, Pineda VV, Lau R, Cho DH, Baccam SL, Axford MM, Cleary JD, Moore JM, Sopher BL et al..  2008.  CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination.. PLoS genetics. 4(11):e1000257. Abstract
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van der Maarel, SM, Miller DG, Tawil R, Filippova GN, Tapscott SJ.  2012.  Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation.. Current opinion in neurology. 25(5):614-20. Abstract
Moore, JM, Rabaia NA, Smith LE, Fagerlie S, Gurley K, Loukinov D, Disteche CM, Collins SJ, Kemp CJ, Lobanenkov VV et al..  2012.  Loss of maternal CTCF is associated with peri-implantation lethality of Ctcf null embryos.. PloS one. 7(4):e34915. Abstract
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Rubio, ED, Reiss DJ, Welcsh PL, Disteche CM, Filippova GN, Baliga NS, Aebersold R, Ranish JA, Krumm A.  2008.  CTCF physically links cohesin to chromatin.. Proceedings of the National Academy of Sciences of the United States of America. 105(24):8309-14. Abstract
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Snider, L, Geng LN, Lemmers RJLF, Kyba M, Ware CB, Nelson AM, Tawil R, Filippova GN, van der Maarel SM, Tapscott SJ et al..  2010.  Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.. PLoS genetics. 6(10):e1001181. Abstract
Snider, L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJLF, Winokur ST, Tawil R et al..  2009.  RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.. Human molecular genetics. 18(13):2414-30. Abstract