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Structural variation in subtelomeres.
Rudd MK. Rudd MK. Methods Mol Biol. 2012;838:137-49. doi: 10.1007/978-1-61779-507-7_6. Methods Mol Biol. 2012. PMID: 22228010
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.
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, Shetty S, Rossi MR, Rudd MK, South ST, Brothman AR, Sanger WG, Iyer RK, Crolla JA, Thorland EC, Aradhya S, Ledbetter DH, Martin CL. Kaminsky EB, et al. Among authors: rudd mk. Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9. Genet Med. 2011. PMID: 21844811 Free PMC article.
38 results