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Clinical utility of genomic sequencing: a measurement toolkit.
Hayeems RZ, Dimmock D, Bick D, Belmont JW, Green RC, Lanpher B, Jobanputra V, Mendoza R, Kulkarni S, Grove ME, Taylor SL, Ashley E; Medical Genome Initiative. Hayeems RZ, et al. Among authors: dimmock d. NPJ Genom Med. 2020 Dec 15;5(1):56. doi: 10.1038/s41525-020-00164-7. NPJ Genom Med. 2020. PMID: 33319814 Free PMC article. Review.
A timely arrival for genomic medicine.
Mayer AN, Dimmock DP, Arca MJ, Bick DP, Verbsky JW, Worthey EA, Jacob HJ, Margolis DA. Mayer AN, et al. Genet Med. 2011 Mar;13(3):195-6. doi: 10.1097/GIM.0b013e3182095089. Genet Med. 2011. PMID: 21169843 Free article. No abstract available.
Guidelines for investigating causality of sequence variants in human disease.
MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, Sunyaev SR, Valle D, Voight BF, Winckler W, Gunter C. MacArthur DG, et al. Among authors: dimmock dp. Nature. 2014 Apr 24;508(7497):469-76. doi: 10.1038/nature13127. Nature. 2014. PMID: 24759409 Free PMC article.
Ethical issues in DNA sequencing in the neonate.
Dimmock DP, Bick DP. Dimmock DP, et al. Clin Perinatol. 2014 Dec;41(4):993-1000. doi: 10.1016/j.clp.2014.08.016. Epub 2014 Sep 23. Clin Perinatol. 2014. PMID: 25459786 Review.
Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic.
Bick D, Fraser PC, Gutzeit MF, Harris JM, Hambuch TM, Helbling DC, Jacob HJ, Kersten JN, Leuthner SR, May T, North PE, Prisco SZ, Schuler BA, Shimoyama M, Strong KA, Van Why SK, Veith R, Verbsky J, Weborg AM Jr, Wilk BM, Willoughby RE Jr, Worthey EA, Dimmock DP. Bick D, et al. Among authors: dimmock dp. J Pediatr Genet. 2017 Jun;6(2):61-76. doi: 10.1055/s-0036-1593968. Epub 2016 Nov 28. J Pediatr Genet. 2017. PMID: 28496993 Free PMC article.
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.
Petrikin JE, Cakici JA, Clark MM, Willig LK, Sweeney NM, Farrow EG, Saunders CJ, Thiffault I, Miller NA, Zellmer L, Herd SM, Holmes AM, Batalov S, Veeraraghavan N, Smith LD, Dimmock DP, Leeder JS, Kingsmore SF. Petrikin JE, et al. Among authors: dimmock dp. NPJ Genom Med. 2018 Feb 9;3:6. doi: 10.1038/s41525-018-0045-8. eCollection 2018. NPJ Genom Med. 2018. PMID: 29449963 Free PMC article.
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
Marshall CR, Chowdhury S, Taft RJ, Lebo MS, Buchan JG, Harrison SM, Rowsey R, Klee EW, Liu P, Worthey EA, Jobanputra V, Dimmock D, Kearney HM, Bick D, Kulkarni S, Taylor SL, Belmont JW, Stavropoulos DJ, Lennon NJ; Medical Genome Initiative. Marshall CR, et al. Among authors: dimmock d. NPJ Genom Med. 2020 Oct 23;5:47. doi: 10.1038/s41525-020-00154-9. eCollection 2020. NPJ Genom Med. 2020. PMID: 33110627 Free PMC article. Review.
156 results