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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: routes jm. Genet Med. 2011 Mar;13(3):255-62. doi: 10.1097/GIM.0b013e3182088158. Genet Med. 2011. PMID: 21173700 Free article.
Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease.
Tomita-Mitchell A, Mahnke DK, Larson JM, Ghanta S, Feng Y, Simpson PM, Broeckel U, Duffy K, Tweddell JS, Grossman WJ, Routes JM, Mitchell ME. Tomita-Mitchell A, et al. Among authors: routes jm. Physiol Genomics. 2010 Sep;42A(1):52-60. doi: 10.1152/physiolgenomics.00073.2010. Epub 2010 Jun 15. Physiol Genomics. 2010. PMID: 20551144 Free PMC article.
Newborn screening for T-cell deficiency.
Chase NM, Verbsky JW, Routes JM. Chase NM, et al. Among authors: routes jm. Curr Opin Allergy Clin Immunol. 2010 Dec;10(6):521-5. doi: 10.1097/ACI.0b013e32833fd6fe. Curr Opin Allergy Clin Immunol. 2010. PMID: 20864885 Review.
Newborn screening for SCID: three years of experience.
Chase NM, Verbsky JW, Routes JM. Chase NM, et al. Among authors: routes jm. Ann N Y Acad Sci. 2011 Nov;1238:99-105. doi: 10.1111/j.1749-6632.2011.06241.x. Ann N Y Acad Sci. 2011. PMID: 22129057
121 results