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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: aradhya s. Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9. Genet Med. 2011. PMID: 21844811 Free PMC article.
Towards an evidence-based process for the clinical interpretation of copy number variation.
Riggs ER, Church DM, Hanson K, Horner VL, Kaminsky EB, Kuhn RM, Wain KE, Williams ES, Aradhya S, Kearney HM, Ledbetter DH, South ST, Thorland EC, Martin CL. Riggs ER, et al. Among authors: aradhya s. Clin Genet. 2012 May;81(5):403-12. doi: 10.1111/j.1399-0004.2011.01818.x. Epub 2011 Dec 13. Clin Genet. 2012. PMID: 22097934 Free PMC article. Review.
Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.
Retterer K, Scuffins J, Schmidt D, Lewis R, Pineda-Alvarez D, Stafford A, Schmidt L, Warren S, Gibellini F, Kondakova A, Blair A, Bale S, Matyakhina L, Meck J, Aradhya S, Haverfield E. Retterer K, et al. Among authors: aradhya s. Genet Med. 2015 Aug;17(8):623-9. doi: 10.1038/gim.2014.160. Epub 2014 Nov 6. Genet Med. 2015. PMID: 25356966 Free article.
154 results