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A novel custom resequencing array for dilated cardiomyopathy.
Zimmerman RS, Cox S, Lakdawala NK, Cirino A, Mancini-DiNardo D, Clark E, Leon A, Duffy E, White E, Baxter S, Alaamery M, Farwell L, Weiss S, Seidman CE, Seidman JG, Ho CY, Rehm HL, Funke BH. Zimmerman RS, et al. Genet Med. 2010 May;12(5):268-78. doi: 10.1097/GIM.0b013e3181d6f7c0. Genet Med. 2010. PMID: 20474083 Free PMC article.
Selection of a platform for mutation detection.
Joshi VA, Mancini-DiNardo D, Funke BH. Joshi VA, et al. Curr Protoc Hum Genet. 2008 Jan;Chapter 7:Unit 7.15. doi: 10.1002/0471142905.hg0715s56. Curr Protoc Hum Genet. 2008. PMID: 18428425
LAMP2 microdeletions in patients with Danon disease.
Yang Z, Funke BH, Cripe LH, Vick GW 3rd, Mancini-Dinardo D, Peña LS, Kanter RJ, Wong B, Westerfield BH, Varela JJ, Fan Y, Towbin JA, Vatta M. Yang Z, et al. Circ Cardiovasc Genet. 2010 Apr;3(2):129-37. doi: 10.1161/CIRCGENETICS.109.901785. Epub 2010 Feb 20. Circ Cardiovasc Genet. 2010. PMID: 20173215 Free PMC article.
Identification of pathogenic retrotransposon insertions in cancer predisposition genes.
Qian Y, Mancini-DiNardo D, Judkins T, Cox HC, Brown K, Elias M, Singh N, Daniels C, Holladay J, Coffee B, Bowles KR, Roa BB. Qian Y, et al. Among authors: mancini dinardo d. Cancer Genet. 2017 Oct;216-217:159-169. doi: 10.1016/j.cancergen.2017.08.002. Epub 2017 Aug 24. Cancer Genet. 2017. PMID: 29025590 Free article.
Prevalence and characteristics of likely-somatic variants in cancer susceptibility genes among individuals who had hereditary pan-cancer panel testing.
Slavin TP, Coffee B, Bernhisel R, Logan J, Cox HC, Marcucci G, Weitzel J, Neuhausen SL, Mancini-DiNardo D. Slavin TP, et al. Among authors: mancini dinardo d. Cancer Genet. 2019 Jun;235-236:31-38. doi: 10.1016/j.cancergen.2019.04.005. Epub 2019 Apr 13. Cancer Genet. 2019. PMID: 31056428 Free PMC article.
19 results