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Terminal 18q deletions are stabilized by neotelomeres.
Guilherme RS, Hermetz KE, Varela PT, Perez AB, Meloni VA, Rudd MK, Kulikowski LD, Melaragno MI. Guilherme RS, et al. Among authors: hermetz ke. Mol Cytogenet. 2015 May 13;8:32. doi: 10.1186/s13039-015-0135-6. eCollection 2015. Mol Cytogenet. 2015. PMID: 25969696 Free PMC article.
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.
Luo Y, Hermetz KE, Jackson JM, Mulle JG, Dodd A, Tsuchiya KD, Ballif BC, Shaffer LG, Cody JD, Ledbetter DH, Martin CL, Rudd MK. Luo Y, et al. Among authors: hermetz ke. Hum Mol Genet. 2011 Oct 1;20(19):3769-78. doi: 10.1093/hmg/ddr293. Epub 2011 Jul 4. Hum Mol Genet. 2011. PMID: 21729882 Free PMC article.
Mouse model implicates GNB3 duplication in a childhood obesity syndrome.
Goldlust IS, Hermetz KE, Catalano LM, Barfield RT, Cozad R, Wynn G, Ozdemir AC, Conneely KN, Mulle JG, Dharamrup S, Hegde MR, Kim KH, Angle B, Colley A, Webb AE, Thorland EC, Ellison JW, Rosenfeld JA, Ballif BC, Shaffer LG, Demmer LA; Unique Rare Chromosome Disorder Support Group; Rudd MK. Goldlust IS, et al. Among authors: hermetz ke. Proc Natl Acad Sci U S A. 2013 Sep 10;110(37):14990-4. doi: 10.1073/pnas.1305999110. Epub 2013 Aug 26. Proc Natl Acad Sci U S A. 2013. PMID: 23980137 Free PMC article.
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