Stone K - Search Results

1

Exome Sequencing and Genotyping Identify a Rare Variant in NLRP7 Gene Associated With Ulcerative Colitis.

Onoufriadis A, Stone K, Katsiamides A, Amar A, Omar Y, de Lange KM, Taylor K, Barrett JC, Pollok R, Hayee B, Mansfield JC, Sanderson JD, Simpson MA, Mathew CG, Prescott NJ. Onoufriadis A, et al. Among authors: stone k. J Crohns Colitis. 2018 Feb 28;12(3):321-326. doi: 10.1093/ecco-jcc/jjx157. J Crohns Colitis. 2018. PMID: 29211899 Free PMC article.

2

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. Among authors: stone k. 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.

3

Impact of next generation sequencing on diagnostics in a genetic skin disease clinic.

Takeichi T, Nanda A, Liu L, Salam A, Campbell P, Fong K, Akiyama M, Ozoemena L, Stone KL, Al-Ajmi H, Simpson MA, McGrath JA. Takeichi T, et al. Among authors: stone kl. Exp Dermatol. 2013 Dec;22(12):825-31. doi: 10.1111/exd.12276. Exp Dermatol. 2013. PMID: 24279917

4

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. 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.

5

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.

McGrath JA, Stone KL, Begum R, Simpson MA, Dopping-Hepenstal PJ, Liu L, McMillan JR, South AP, Pourreyron C, McLean WH, Martinez AE, Mellerio JE, Parsons M. McGrath JA, et al. Am J Hum Genet. 2012 Dec 7;91(6):1115-21. doi: 10.1016/j.ajhg.2012.10.012. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176819 Free PMC article.

6

Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome.

Lai-Cheong JE, Sethuraman G, Ramam M, Stone K, Simpson MA, McGrath JA. Lai-Cheong JE, et al. Among authors: stone k. Br J Dermatol. 2012 Aug;167(2):440-2. doi: 10.1111/j.1365-2133.2012.11115.x. Br J Dermatol. 2012. PMID: 22835024

7

Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.

Krunic AL, Stone KL, Simpson MA, McGrath JA. Krunic AL, et al. Pediatr Dermatol. 2013 Sep-Oct;30(5):e87-8. doi: 10.1111/pde.12092. Epub 2013 Mar 28. Pediatr Dermatol. 2013. PMID: 23534700

8

Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis.

Takeichi T, Liu L, Abdul-Wahab A, McMillan JR, Stone KL, Akiyama M, Simpson MA, Parsons M, Mellerio JE, McGrath JA. Takeichi T, et al. J Invest Dermatol. 2016 Oct;136(10):2095-2098. doi: 10.1016/j.jid.2016.06.016. Epub 2016 Jun 25. J Invest Dermatol. 2016. PMID: 27349861 Free article. No abstract available.

9

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.

10

Sleep macro-architecture and dementia risk in adults: Meta-analysis of 5 cohorts from the Sleep and Dementia Consortium.

Yiallourou S, Baril AA, Wiedner C, Misialek JR, Kline CE, Harrison S, Cannon E, Yang Q, Bernal R, Bisson A, Himali D, Cavuoto M, Weihs A, Beiser A, Gottesman RF, Leng Y, Lopez O, Lutsey PL, Purcell SM, Redline S, Seshadri S, Stone KL, Yaffe K, Ancoli-Israel S, Xiao Q, Vaou EO, Himali JJ, Pase MP. Yiallourou S, et al. Among authors: stone kl. medRxiv [Preprint]. 2024 Nov 5:2024.11.05.24316677. doi: 10.1101/2024.11.05.24316677. medRxiv. 2024. PMID: 39802761 Free PMC article. Preprint.

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