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Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
Ballif BC, Theisen A, Rosenfeld JA, Traylor RN, Gastier-Foster J, Thrush DL, Astbury C, Bartholomew D, McBride KL, Pyatt RE, Shane K, Smith WE, Banks V, Gallentine WB, Brock P, Rudd MK, Adam MP, Keene JA, Phillips JA 3rd, Pfotenhauer JP, Gowans GC, Stankiewicz P, Bejjani BA, Shaffer LG. Ballif BC, et al. Among authors: rudd mk. Am J Hum Genet. 2010 Mar 12;86(3):454-61. doi: 10.1016/j.ajhg.2010.01.038. Epub 2010 Mar 4. Am J Hum Genet. 2010. PMID: 20206336 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: rudd mk. 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: rudd mk. 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.
Microdeletions of 3q29 confer high risk for schizophrenia.
Mulle JG, Dodd AF, McGrath JA, Wolyniec PS, Mitchell AA, Shetty AC, Sobreira NL, Valle D, Rudd MK, Satten G, Cutler DJ, Pulver AE, Warren ST. Mulle JG, et al. Among authors: rudd mk. Am J Hum Genet. 2010 Aug 13;87(2):229-36. doi: 10.1016/j.ajhg.2010.07.013. Am J Hum Genet. 2010. PMID: 20691406 Free PMC article.
Large contiguous gene deletions in Sjögren-Larsson syndrome.
Engelstad H, Carney G, S'aulis D, Rise J, Sanger WG, Rudd MK, Richard G, Carr CW, Abdul-Rahman OA, Rizzo WB. Engelstad H, et al. Among authors: rudd mk. Mol Genet Metab. 2011 Nov;104(3):356-61. doi: 10.1016/j.ymgme.2011.05.015. Epub 2011 May 30. Mol Genet Metab. 2011. PMID: 21684788 Free PMC article.
38 results