Fong K - Search Results

1

Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.

Takeichi T, Liu L, Fong K, Ozoemena L, McMillan JR, Salam A, Campbell P, Akiyama M, Mellerio JE, McLean WH, Simpson MA, McGrath JA. Takeichi T, et al. Among authors: fong k. Br J Dermatol. 2015 Jan;172(1):94-100. doi: 10.1111/bjd.13190. Epub 2014 Nov 19. Br J Dermatol. 2015. PMID: 24947307

2

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: fong k. Exp Dermatol. 2013 Dec;22(12):825-31. doi: 10.1111/exd.12276. Exp Dermatol. 2013. PMID: 24279917

3

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: fong k. 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.

4

Questioning the Clinical Utility of Exome Sequencing in Developing Countries.

Fong K, Bailey CV, Tuttle P, Cunningham B, McGrath JA, Cho RJ. Fong K, et al. Pediatr Dermatol. 2017 Jan;34(1):e32-e34. doi: 10.1111/pde.13029. Epub 2016 Nov 22. Pediatr Dermatol. 2017. PMID: 27874213

5

Infantile systemic hyalinosis associated with a putative splice-site mutation in the ANTXR2 gene.

Fong K, Rama Devi AR, Lai-Cheong JE, Chirla D, Panda SK, Liu L, Tosi I, McGrath JA. Fong K, et al. Clin Exp Dermatol. 2012 Aug;37(6):635-8. doi: 10.1111/j.1365-2230.2011.04287.x. Epub 2012 Feb 2. Clin Exp Dermatol. 2012. PMID: 22300424

6

MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans.

Fong K, Wedgeworth EK, Lai-Cheong JE, Tosi I, Mellerio JE, Powell AM, McGrath JA. Fong K, et al. Clin Exp Dermatol. 2012 Aug;37(6):631-4. doi: 10.1111/j.1365-2230.2011.04288.x. Clin Exp Dermatol. 2012. PMID: 22816986

7

Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2.

Fong K, Takeichi T, Liu L, Pramanik R, Lee J, Akiyama M, McGrath JA. Fong K, et al. Clin Exp Dermatol. 2015 Jul;40(5):529-32. doi: 10.1111/ced.12587. Epub 2015 Feb 16. Clin Exp Dermatol. 2015. PMID: 25683132

8

Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A.

Petrof G, Fong K, Lai-Cheong JE, Cockayne SE, McGrath JA. Petrof G, et al. Among authors: fong k. Australas J Dermatol. 2011 Aug;52(3):224-6. doi: 10.1111/j.1440-0960.2011.00788.x. Epub 2011 Jun 29. Australas J Dermatol. 2011. PMID: 21834823

9

Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression.

Liu L, Dopping-Hepenstal PJ, Lovell PA, Michael M, Horn H, Fong K, Lai-Cheong JE, Mellerio JE, Parsons M, McGrath JA. Liu L, et al. Among authors: fong k. J Invest Dermatol. 2012 Mar;132(3 Pt 1):742-4. doi: 10.1038/jid.2011.379. Epub 2011 Nov 24. J Invest Dermatol. 2012. PMID: 22113475 Free article. No abstract available.

10

Sporadic Kindler syndrome with a novel mutation.

Almeida HL Jr, Heckler GT, Fong K, Lai-Cheong J, McGrath J. Almeida HL Jr, et al. Among authors: fong k. An Bras Dermatol. 2013 Nov-Dec;88(6 Suppl 1):212-5. doi: 10.1590/abd1806-4841.20132173. An Bras Dermatol. 2013. PMID: 24346923 Free PMC article.

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