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An online compendium of treatable genetic disorders.
Bick D, Bick SL, Dimmock DP, Fowler TA, Caulfield MJ, Scott RH. Bick D, et al. Among authors: dimmock dp. Am J Med Genet C Semin Med Genet. 2021 Mar;187(1):48-54. doi: 10.1002/ajmg.c.31874. Epub 2020 Dec 22. Am J Med Genet C Semin Med Genet. 2021. PMID: 33350578 Free PMC article.
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. Among authors: dimmock dp. Genet Med. 2011 Mar;13(3):195-6. doi: 10.1097/GIM.0b013e3182095089. Genet Med. 2011. PMID: 21169843 Free article. No abstract available.
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.
Worthey EA, Mayer AN, Syverson GD, Helbling D, Bonacci BB, Decker B, Serpe JM, Dasu T, Tschannen MR, Veith RL, Basehore MJ, Broeckel U, Tomita-Mitchell A, Arca MJ, Casper JT, Margolis DA, Bick DP, Hessner MJ, Routes JM, Verbsky JW, Jacob HJ, Dimmock DP. Worthey EA, et al. Among authors: dimmock dp. Genet Med. 2011 Mar;13(3):255-62. doi: 10.1097/GIM.0b013e3182088158. Genet Med. 2011. PMID: 21173700 Free 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.
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. 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.
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. 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.
Genomics in clinical practice: lessons from the front lines.
Jacob HJ, Abrams K, Bick DP, Brodie K, Dimmock DP, Farrell M, Geurts J, Harris J, Helbling D, Joers BJ, Kliegman R, Kowalski G, Lazar J, Margolis DA, North P, Northup J, Roquemore-Goins A, Scharer G, Shimoyama M, Strong K, Taylor B, Tsaih SW, Tschannen MR, Veith RL, Wendt-Andrae J, Wilk B, Worthey EA. Jacob HJ, et al. Among authors: dimmock dp. Sci Transl Med. 2013 Jul 17;5(194):194cm5. doi: 10.1126/scitranslmed.3006468. Sci Transl Med. 2013. PMID: 23863829
77 results