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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: golden dm. Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9. Genet Med. 2011. PMID: 21844811 Free PMC article.
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
Moreno-De-Luca D; SGENE Consortium; Mulle JG; Simons Simplex Collection Genetics Consortium; Kaminsky EB, Sanders SJ; GeneSTAR; Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, Chandrareddy A, Demmer LA, Chow EW, Surti U, Aradhya S, Pickering DL, Golden DM, Sanger WG, Aston E, Brothman AR, Gliem TJ, Thorland EC, Ackley T, Iyer R, Huang S, Barber JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH. Moreno-De-Luca D, et al. Among authors: golden dm. Am J Hum Genet. 2010 Nov 12;87(5):618-30. doi: 10.1016/j.ajhg.2010.10.004. Epub 2010 Nov 4. Am J Hum Genet. 2010. PMID: 21055719 Free PMC article.
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.
Riggs ER, Nelson T, Merz A, Ackley T, Bunke B, Collins CD, Collinson MN, Fan YS, Goodenberger ML, Golden DM, Haglund-Hazy L, Krgovic D, Lamb AN, Lewis Z, Li G, Liu Y, Meck J, Neufeld-Kaiser W, Runke CK, Sanmann JN, Stavropoulos DJ, Strong E, Su M, Tayeh MK, Kokalj Vokac N, Thorland EC, Andersen E, Martin CL. Riggs ER, et al. Among authors: golden dm. Hum Mutat. 2018 Nov;39(11):1650-1659. doi: 10.1002/humu.23610. Hum Mutat. 2018. PMID: 30095202 Free PMC article.
Reprogramming of Ovarian Granulosa Cells by YAP1 Leads to Development of High-Grade Cancer with Mesenchymal Lineage and Serous Features.
Lv X, He C, Huang C, Hua G, Chen X, Timm BK, Maclin VM, Haggerty AA, Aust SK, Golden DM, Dave BJ, Tseng YA, Chen L, Wang H, Chen P, Klinkebiel DL, Karpf AR, Dong J, Drapkin RI, Rueda BR, Davis JS, Wang C. Lv X, et al. Among authors: golden dm. Sci Bull (Beijing). 2020 Aug 15;65(15):1281-1296. doi: 10.1016/j.scib.2020.03.040. Epub 2020 Mar 30. Sci Bull (Beijing). 2020. PMID: 34888112 Free PMC article.
Reply to "Comment on 'When Rate Constants Are Not Enough'".
Barker JR, Frenklach M, Golden DM. Barker JR, et al. Among authors: golden dm. J Phys Chem A. 2016 Jan 21;120(2):313-7. doi: 10.1021/acs.jpca.5b06652. Epub 2016 Jan 7. J Phys Chem A. 2016. PMID: 26697779 No abstract available.
When Rate Constants Are Not Enough.
Barker JR, Frenklach M, Golden DM. Barker JR, et al. Among authors: golden dm. J Phys Chem A. 2015 Jul 16;119(28):7451-61. doi: 10.1021/acs.jpca.5b00640. Epub 2015 Apr 21. J Phys Chem A. 2015. PMID: 25867137
36 results