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Clinical application of whole-genome sequencing in patients with primary immunodeficiency.
Mousallem T, Urban TJ, McSweeney KM, Kleinstein SE, Zhu M, Adeli M, Parrott RE, Roberts JL, Krueger B, Buckley RH, Goldstein DB. Mousallem T, et al. Among authors: urban tj. J Allergy Clin Immunol. 2015 Aug;136(2):476-9.e6. doi: 10.1016/j.jaci.2015.02.040. Epub 2015 May 14. J Allergy Clin Immunol. 2015. PMID: 25981738 Free PMC article.
A nonsense mutation in IKBKB causes combined immunodeficiency.
Mousallem T, Yang J, Urban TJ, Wang H, Adeli M, Parrott RE, Roberts JL, Goldstein DB, Buckley RH, Zhong XP. Mousallem T, et al. Among authors: urban tj. Blood. 2014 Sep 25;124(13):2046-50. doi: 10.1182/blood-2014-04-571265. Epub 2014 Aug 18. Blood. 2014. PMID: 25139357 Free PMC article.
Genome-wide association study of interferon-related cytopenia in chronic hepatitis C patients.
Thompson AJ, Clark PJ, Singh A, Ge D, Fellay J, Zhu M, Zhu Q, Urban TJ, Patel K, Tillmann HL, Naggie S, Afdhal NH, Jacobson IM, Esteban R, Poordad F, Lawitz EJ, McCone J, Shiffman ML, Galler GW, King JW, Kwo PY, Shianna KV, Noviello S, Pedicone LD, Brass CA, Albrecht JK, Sulkowski MS, Goldstein DB, McHutchison JG, Muir AJ. Thompson AJ, et al. Among authors: urban tj. J Hepatol. 2012 Feb;56(2):313-9. doi: 10.1016/j.jhep.2011.04.021. Epub 2011 May 20. J Hepatol. 2012. PMID: 21703177 Free PMC article.
An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.
Petrovski S, Todd JL, Durheim MT, Wang Q, Chien JW, Kelly FL, Frankel C, Mebane CM, Ren Z, Bridgers J, Urban TJ, Malone CD, Finlen Copeland A, Brinkley C, Allen AS, O'Riordan T, McHutchison JG, Palmer SM, Goldstein DB. Petrovski S, et al. Among authors: urban tj. Am J Respir Crit Care Med. 2017 Jul 1;196(1):82-93. doi: 10.1164/rccm.201610-2088OC. Am J Respir Crit Care Med. 2017. PMID: 28099038 Free PMC article.
77 results