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A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI).
Am J Med Genet A. 2009 Aug;149A(8):1698-705. doi: 10.1002/ajmg.a.32968.
Am J Med Genet A. 2009.
PMID: 19610109
Free PMC article.
PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.
Taube JR, Sperle K, Banser L, Seeman P, Cavan BC, Garbern JY, Hobson GM.
Taube JR, et al. Among authors: banser l.
Hum Mol Genet. 2014 Oct 15;23(20):5464-78. doi: 10.1093/hmg/ddu271. Epub 2014 Jun 1.
Hum Mol Genet. 2014.
PMID: 24890387
Free PMC article.
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Gait abnormalities and progressive myelin degeneration in a new murine model of Pelizaeus-Merzbacher disease with tandem genomic duplication.
Clark K, Sakowski L, Sperle K, Banser L, Landel CP, Bessert DA, Skoff RP, Hobson GM.
Clark K, et al. Among authors: banser l.
J Neurosci. 2013 Jul 17;33(29):11788-99. doi: 10.1523/JNEUROSCI.1336-13.2013.
J Neurosci. 2013.
PMID: 23864668
Free PMC article.
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Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
Beck CR, Carvalho CM, Banser L, Gambin T, Stubbolo D, Yuan B, Sperle K, McCahan SM, Henneke M, Seeman P, Garbern JY, Hobson GM, Lupski JR.
Beck CR, et al. Among authors: banser l.
PLoS Genet. 2015 Mar 6;11(3):e1005050. doi: 10.1371/journal.pgen.1005050. eCollection 2015 Mar.
PLoS Genet. 2015.
PMID: 25749076
Free PMC article.
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