Craig JE - Search Results

1

Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse.

Hassall MM, Javadiyan S, Klebe S, Awadalla MS, Sharma S, Qassim A, White M, Thomas PQ, Craig JE, Siggs OM. Hassall MM, et al. Among authors: craig je. Sci Rep. 2023 Jul 7;13(1):11017. doi: 10.1038/s41598-023-37855-x. Sci Rep. 2023. PMID: 37419942 Free PMC article.

2

Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.

Sharma S, Ang SL, Shaw M, Mackey DA, Gécz J, McAvoy JW, Craig JE. Sharma S, et al. Among authors: craig je. Hum Mol Genet. 2006 Jun 15;15(12):1972-83. doi: 10.1093/hmg/ddl120. Epub 2006 May 4. Hum Mol Genet. 2006. PMID: 16675532

3

A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site.

Burdon KP, Sharma S, Chen CS, Dimasi DP, Mackey DA, Craig JE. Burdon KP, et al. Among authors: craig je. Hum Mutat. 2007 Jul;28(7):742. doi: 10.1002/humu.9501. Hum Mutat. 2007. PMID: 17579362

4

Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people.

Hewitt AW, Sharma S, Burdon KP, Wang JJ, Baird PN, Dimasi DP, Mackey DA, Mitchell P, Craig JE. Hewitt AW, et al. Among authors: craig je. Hum Mol Genet. 2008 Mar 1;17(5):710-6. doi: 10.1093/hmg/ddm342. Epub 2007 Nov 23. Hum Mol Genet. 2008. PMID: 18037624

5

Genetic analysis of the clusterin gene in pseudoexfoliation syndrome.

Burdon KP, Sharma S, Hewitt AW, McMellon AE, Wang JJ, Mackey DA, Mitchell P, Craig JE. Burdon KP, et al. Among authors: craig je. Mol Vis. 2008 Sep 22;14:1727-36. Mol Vis. 2008. PMID: 18806885 Free PMC article.

6

Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.

Sharma S, Burdon KP, Dave A, Jamieson RV, Yaron Y, Billson F, Van Maldergem L, Lorenz B, Gécz J, Craig JE. Sharma S, et al. Among authors: craig je. Mol Vis. 2008;14:1856-64. Epub 2008 Oct 20. Mol Vis. 2008. PMID: 18949062 Free PMC article.

7

Identification of LOXL1 protein and Apolipoprotein E as components of surgically isolated pseudoexfoliation material by direct mass spectrometry.

Sharma S, Chataway T, Burdon KP, Jonavicius L, Klebe S, Hewitt AW, Mills RA, Craig JE. Sharma S, et al. Among authors: craig je. Exp Eye Res. 2009 Oct;89(4):479-85. doi: 10.1016/j.exer.2009.05.001. Epub 2009 May 12. Exp Eye Res. 2009. PMID: 19442659

8

NHS-A isoform of the NHS gene is a novel interactor of ZO-1.

Sharma S, Koh KS, Collin C, Dave A, McMellon A, Sugiyama Y, McAvoy JW, Voss AK, Gécz J, Craig JE. Sharma S, et al. Among authors: craig je. Exp Cell Res. 2009 Aug 15;315(14):2358-72. doi: 10.1016/j.yexcr.2009.05.008. Epub 2009 May 15. Exp Cell Res. 2009. PMID: 19447104

9

Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes.

Dimasi DP, Chen JY, Hewitt AW, Klebe S, Davey R, Stirling J, Thompson E, Forbes R, Tan TY, Savarirayan R, Mackey DA, Healey PR, Mitchell P, Burdon KP, Craig JE. Dimasi DP, et al. Among authors: craig je. Hum Genet. 2010 Jan;127(1):33-44. doi: 10.1007/s00439-009-0729-3. Epub 2009 Aug 28. Hum Genet. 2010. PMID: 19714363

10

Rapid inexpensive genome-wide association using pooled whole blood.

Craig JE, Hewitt AW, McMellon AE, Henders AK, Ma L, Wallace L, Sharma S, Burdon KP, Visscher PM, Montgomery GW, MacGregor S. Craig JE, et al. Genome Res. 2009 Nov;19(11):2075-80. doi: 10.1101/gr.094680.109. Epub 2009 Oct 3. Genome Res. 2009. PMID: 19801603 Free PMC article.

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