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Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.
van Schouwenburg PA, Davenport EE, Kienzler AK, Marwah I, Wright B, Lucas M, Malinauskas T, Martin HC; WGS500 Consortium; Lockstone HE, Cazier JB, Chapel HM, Knight JC, Patel SY. van Schouwenburg PA, et al. Among authors: patel sy. Clin Immunol. 2015 Oct;160(2):301-14. doi: 10.1016/j.clim.2015.05.020. Epub 2015 Jun 26. Clin Immunol. 2015. PMID: 26122175 Free PMC article.
Lymphoid proliferations of indeterminate malignant potential arising in adults with common variable immunodeficiency disorders: unusual case studies and immunohistological review in the light of possible causative events.
da Silva SP, Resnick E, Lucas M, Lortan J, Patel S, Cunningham-Rundles C, Gatter K, Liu Q, Jaffe ES, Chapel H. da Silva SP, et al. J Clin Immunol. 2011 Oct;31(5):784-91. doi: 10.1007/s10875-011-9565-z. Epub 2011 Jul 9. J Clin Immunol. 2011. PMID: 21744182 Free PMC article. Review.
Identification of a novel mutation in MAGT1 and progressive multifocal leucoencephalopathy in a 58-year-old man with XMEN disease.
Dhalla F, Murray S, Sadler R, Chaigne-Delalande B, Sadaoka T, Soilleux E, Uzel G, Miller J, Collins GP, Hatton CS, Bhole M, Ferry B, Chapel HM, Cohen JI, Patel SY. Dhalla F, et al. Among authors: patel sy. J Clin Immunol. 2015 Feb;35(2):112-8. doi: 10.1007/s10875-014-0116-2. Epub 2014 Dec 13. J Clin Immunol. 2015. PMID: 25504528 Free PMC article. Review.
Key stages of bone marrow B-cell maturation are defective in patients with common variable immunodeficiency disorders.
Anzilotti C, Kienzler AK, Lopez-Granados E, Gooding S, Davies B, Pandit H, Lucas M, Price A, Littlewood T, van der Burg M, Patel SY, Chapel H. Anzilotti C, et al. Among authors: patel sy. J Allergy Clin Immunol. 2015 Aug;136(2):487-90.e2. doi: 10.1016/j.jaci.2014.12.1943. Epub 2015 Feb 26. J Allergy Clin Immunol. 2015. PMID: 25725990 No abstract available.
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB, Rimmer A, Kanapin A, Lunter G, Fiddy S, Allan C, Aricescu AR, Attar M, Babbs C, Becq J, Beeson D, Bento C, Bignell P, Blair E, Buckle VJ, Bull K, Cais O, Cario H, Chapel H, Copley RR, Cornall R, Craft J, Dahan K, Davenport EE, Dendrou C, Devuyst O, Fenwick AL, Flint J, Fugger L, Gilbert RD, Goriely A, Green A, Greger IH, Grocock R, Gruszczyk AV, Hastings R, Hatton E, Higgs D, Hill A, Holmes C, Howard M, Hughes L, Humburg P, Johnson D, Karpe F, Kingsbury Z, Kini U, Knight JC, Krohn J, Lamble S, Langman C, Lonie L, Luck J, McCarthy D, McGowan SJ, McMullin MF, Miller KA, Murray L, Németh AH, Nesbit MA, Nutt D, Ormondroyd E, Oturai AB, Pagnamenta A, Patel SY, Percy M, Petousi N, Piazza P, Piret SE, Polanco-Echeverry G, Popitsch N, Powrie F, Pugh C, Quek L, Robbins PA, Robson K, Russo A, Sahgal N, van Schouwenburg PA, Schuh A, Silverman E, Simmons A, Sørensen PS, Sweeney E, Taylor J, Thakker RV, Tomlinson I, Trebes A, Twigg SR, Uhlig HH, Vyas P, Vyse T, Wall SA, Watkins H, Whyte MP, Witty L, Wright B, Yau C, Buck D, Humphray S, Ratcliffe PJ, Bell JI, Wilkie AO, Bentley D, Donnelly P, McVean G. Taylor JC, et al. Among authors: patel sy. Nat Genet. 2015 Jul;47(7):717-726. doi: 10.1038/ng.3304. Epub 2015 May 18. Nat Genet. 2015. PMID: 25985138 Free PMC article.
Chronic mucocutaneous candidiasis: characterization of a family with STAT-1 gain-of-function and development of an ex-vivo assay for Th17 deficiency of diagnostic utility.
Dhalla F, Fox H, Davenport EE, Sadler R, Anzilotti C, van Schouwenburg PA, Ferry B, Chapel H, Knight JC, Patel SY. Dhalla F, et al. Among authors: patel sy. Clin Exp Immunol. 2016 May;184(2):216-27. doi: 10.1111/cei.12746. Epub 2016 Feb 9. Clin Exp Immunol. 2016. PMID: 26621323 Free PMC article.
127 results