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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: jacob hj. Genet Med. 2011 Mar;13(3):255-62. doi: 10.1097/GIM.0b013e3182088158. Genet Med. 2011. PMID: 21173700 Free 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: jacob hj. Genet Med. 2011 Mar;13(3):195-6. doi: 10.1097/GIM.0b013e3182095089. Genet Med. 2011. PMID: 21169843 Free article. No abstract available.
Sequencing of the rat genome and databases.
Worthey EA, Stoddard AJ, Jacob HJ. Worthey EA, et al. Among authors: jacob hj. Methods Mol Biol. 2010;597:33-53. doi: 10.1007/978-1-60327-389-3_3. Methods Mol Biol. 2010. PMID: 20013224
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. Sci Transl Med. 2013 Jul 17;5(194):194cm5. doi: 10.1126/scitranslmed.3006468. Sci Transl Med. 2013. PMID: 23863829
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: jacob hj. 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.
Identification of somatic mutations in non-small cell lung carcinomas using whole-exome sequencing.
Liu P, Morrison C, Wang L, Xiong D, Vedell P, Cui P, Hua X, Ding F, Lu Y, James M, Ebben JD, Xu H, Adjei AA, Head K, Andrae JW, Tschannen MR, Jacob H, Pan J, Zhang Q, Van den Bergh F, Xiao H, Lo KC, Patel J, Richmond T, Watt MA, Albert T, Selzer R, Anderson M, Wang J, Wang Y, Starnes S, Yang P, You M. Liu P, et al. Carcinogenesis. 2012 Jul;33(7):1270-6. doi: 10.1093/carcin/bgs148. Epub 2012 Apr 17. Carcinogenesis. 2012. PMID: 22510280 Free PMC article.
Exploring concordance and discordance for return of incidental findings from clinical sequencing.
Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, Plon SE, Rehm HL, Jacob HJ. Green RC, et al. Among authors: jacob hj. Genet Med. 2012 Apr;14(4):405-10. doi: 10.1038/gim.2012.21. Epub 2012 Mar 15. Genet Med. 2012. PMID: 22422049 Free PMC article.
Identification of a novel gene for diabetic traits in rats, mice, and humans.
Tsaih SW, Holl K, Jia S, Kaldunski M, Tschannen M, He H, Andrae JW, Li SH, Stoddard A, Wiederhold A, Parrington J, Ruas da Silva M, Galione A, Meigs J; Meta-Analyses of Glucose and Insulin-Related Traits Consortium (MAGIC) Investigators; Hoffmann RG, Simpson P, Jacob H, Hessner M, Solberg Woods LC. Tsaih SW, et al. Genetics. 2014 Sep;198(1):17-29. doi: 10.1534/genetics.114.162982. Genetics. 2014. PMID: 25236446 Free PMC article.
330 results