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Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.
Campbell P, Morton PE, Takeichi T, Salam A, Roberts N, Proudfoot LE, Mellerio JE, Aminu K, Wellington C, Patil SN, Akiyama M, Liu L, McMillan JR, Aristodemou S, Ishida-Yamamoto A, Abdul-Wahab A, Petrof G, Fong K, Harnchoowong S, Stone KL, Harper JI, Irwin McLean WH, Simpson MA, Parsons M, McGrath JA. Campbell P, et al. Among authors: stone kl. J Invest Dermatol. 2014 Oct;134(10):2570-2578. doi: 10.1038/jid.2014.164. Epub 2014 Apr 1. J Invest Dermatol. 2014. PMID: 24691054 Free PMC article.
Next generation diagnostics of heritable connective tissue disorders.
Salam A, Simpson MA, Stone KL, Takeichi T, Nanda A, Akiyama M, McGrath JA. Salam A, et al. Among authors: stone kl. Matrix Biol. 2014 Jan;33:35-40. doi: 10.1016/j.matbio.2013.06.004. Epub 2013 Jul 26. Matrix Biol. 2014. PMID: 23896220 Free article. Review.
Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.
Prescott NJ, Lehne B, Stone K, Lee JC, Taylor K, Knight J, Papouli E, Mirza MM, Simpson MA, Spain SL, Lu G, Fraternali F, Bumpstead SJ, Gray E, Amar A, Bye H, Green P, Chung-Faye G, Hayee B, Pollok R, Satsangi J, Parkes M, Barrett JC, Mansfield JC, Sanderson J, Lewis CM, Weale ME, Schlitt T, Mathew CG; UK IBD Genetics Consortium. Prescott NJ, et al. PLoS Genet. 2015 Feb 11;11(2):e1004955. doi: 10.1371/journal.pgen.1004955. eCollection 2015 Feb. PLoS Genet. 2015. PMID: 25671699 Free PMC article.
Gene-Excessive Sleepiness Interactions Suggest Treatment Targets for Obstructive Sleep Apnea Subtype.
Nagarajan P, Kurniansyah N, Lee J, Gharib SA, Xu Y, Zhang Y, Spitzer B, Faquih T, Zhou H, Boerwinkle E, Chen H, Gottlieb DJ, Guo X, Heard-Costa NL, Hidalgo BA, Levy D, Liu PY, Mei H, Montalvan R, Mukherjee S, North KE, O'Conner GT, Palmer LJ, Patel SR, Psaty BM, Purcell SM, Raffield LM, Rich SS, Rotter JI, Saxena R, Smith AV, Stone KL, Zhu X; TOPMed Sleep Trait WG; Cade BE, Sofer T, Redline S, Wang H. Nagarajan P, et al. Among authors: stone kl. medRxiv [Preprint]. 2024 Oct 28:2024.10.25.24316158. doi: 10.1101/2024.10.25.24316158. medRxiv. 2024. PMID: 39574859 Free PMC article. Preprint.
373 results