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Items: 23

1.

Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.

Siggs OM, Souzeau E, Pasutto F, Dubowsky A, Smith JEH, Taranath D, Pater J, Rait JL, Narita A, Mauri L, Del Longo A, Reis A, Chappell A, Kearns LS, Staffieri SE, Elder JE, Ruddle JB, Hewitt AW, Burdon KP, Mackey DA, Craig JE.

JAMA Ophthalmol. 2019 Apr 1;137(4):348-355. doi: 10.1001/jamaophthalmol.2018.5646.

PMID:
30653210
2.

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

Iglesias AI, Mishra A, Vitart V, Bykhovskaya Y, Höhn R, Springelkamp H, Cuellar-Partida G, Gharahkhani P, Bailey JNC, Willoughby CE, Li X, Yazar S, Nag A, Khawaja AP, Polašek O, Siscovick D, Mitchell P, Tham YC, Haines JL, Kearns LS, Hayward C, Shi Y, van Leeuwen EM, Taylor KD; Blue Mountains Eye Study - GWAS group, Bonnemaijer P, Rotter JI, Martin NG, Zeller T, Mills RA, Souzeau E, Staffieri SE, Jonas JB, Schmidtmann I, Boutin T, Kang JH, Lucas SEM, Wong TY, Beutel ME, Wilson JF; Wellcome Trust Case Control Consortium 2 (WTCCC2); NEIGHBORHOOD consortium, Uitterlinden AG, Vithana EN, Foster PJ, Hysi PG, Hewitt AW, Khor CC, Pasquale LR, Montgomery GW, Klaver CCW, Aung T, Pfeiffer N, Mackey DA, Hammond CJ, Cheng CY, Craig JE, Rabinowitz YS, Wiggs JL, Burdon KP, van Duijn CM, MacGregor S.

Nat Commun. 2019 Jan 8;10(1):155. doi: 10.1038/s41467-018-07819-1.

3.

Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect.

Shaaban S, MacKinnon S, Andrews C, Staffieri SE, Maconachie GDE, Chan WM, Whitman MC, Morton SU, Yazar S, MacGregor S, Elder JE, Traboulsi EI, Gottlob I, Hewitt AW; Strabismus Genetics Research Consortium, Hunter DG, Mackey DA, Engle EC.

Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4054-4064. doi: 10.1167/iovs.18-24082.

4.

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

Iglesias AI, Mishra A, Vitart V, Bykhovskaya Y, Höhn R, Springelkamp H, Cuellar-Partida G, Gharahkhani P, Bailey JNC, Willoughby CE, Li X, Yazar S, Nag A, Khawaja AP, Polašek O, Siscovick D, Mitchell P, Tham YC, Haines JL, Kearns LS, Hayward C, Shi Y, van Leeuwen EM, Taylor KD; Blue Mountains Eye Study—GWAS group, Bonnemaijer P, Rotter JI, Martin NG, Zeller T, Mills RA, Souzeau E, Staffieri SE, Jonas JB, Schmidtmann I, Boutin T, Kang JH, Lucas SEM, Wong TY, Beutel ME, Wilson JF; NEIGHBORHOOD Consortium; Wellcome Trust Case Control Consortium 2 (WTCCC2), Uitterlinden AG, Vithana EN, Foster PJ, Hysi PG, Hewitt AW, Khor CC, Pasquale LR, Montgomery GW, Klaver CCW, Aung T, Pfeiffer N, Mackey DA, Hammond CJ, Cheng CY, Craig JE, Rabinowitz YS, Wiggs JL, Burdon KP, van Duijn CM, MacGregor S.

Nat Commun. 2018 May 14;9(1):1864. doi: 10.1038/s41467-018-03646-6. Erratum in: Nat Commun. 2019 Jan 8;10(1):155.

5.

Crowd-sourced Ontology for Photoleukocoria: Identifying Common Internet Search Terms for a Potentially Important Pediatric Ophthalmic Sign.

Staffieri SE, Kearns LS, Sanfilippo PG, Craig JE, Mackey DA, Hewitt AW.

Transl Vis Sci Technol. 2018 Feb 15;7(1):18. doi: 10.1167/tvst.7.1.18. eCollection 2018 Feb.

6.

Optical treatment of amblyopia in older children and adults is essential prior to enrolment in a clinical trial.

Gao TY, Anstice N, Babu RJ, Black JM, Bobier WR, Dai S, Guo CX, Hess RF, Jenkins M, Jiang Y, Kearns L, Kowal L, Lam CSY, Pang PCK, Parag V, South J, Staffieri SE, Wadham A, Walker N, Thompson B; Binocular Treatment of Amblyopia Using Videogames (BRAVO) Study Team.

Ophthalmic Physiol Opt. 2018 Mar;38(2):129-143. doi: 10.1111/opo.12437. Epub 2018 Jan 22.

PMID:
29356022
7.

Effectiveness of a Binocular Video Game vs Placebo Video Game for Improving Visual Functions in Older Children, Teenagers, and Adults With Amblyopia: A Randomized Clinical Trial.

Gao TY, Guo CX, Babu RJ, Black JM, Bobier WR, Chakraborty A, Dai S, Hess RF, Jenkins M, Jiang Y, Kearns LS, Kowal L, Lam CSY, Pang PCK, Parag V, Pieri R, Raveendren RN, South J, Staffieri SE, Wadham A, Walker N, Thompson B; BRAVO Study Team.

JAMA Ophthalmol. 2018 Feb 1;136(2):172-181. doi: 10.1001/jamaophthalmol.2017.6090.

8.

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants.

Souzeau E, Siggs OM, Zhou T, Galanopoulos A, Hodson T, Taranath D, Mills RA, Landers J, Pater J, Smith JE, Elder JE, Rait JL, Giles P, Phakey V, Staffieri SE, Kearns LS, Dubowsky A, Mackey DA, Hewitt AW, Ruddle JB, Burdon KP, Craig JE.

Eur J Hum Genet. 2017 Nov;25(11):1290. doi: 10.1038/ejhg.2017.147.

9.

High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.

Javadiyan S, Craig JE, Souzeau E, Sharma S, Lower KM, Mackey DA, Staffieri SE, Elder JE, Taranath D, Straga T, Black J, Pater J, Casey T, Hewitt AW, Burdon KP.

G3 (Bethesda). 2017 Oct 5;7(10):3257-3268. doi: 10.1534/g3.117.300109.

10.

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants.

Souzeau E, Siggs OM, Zhou T, Galanopoulos A, Hodson T, Taranath D, Mills RA, Landers J, Pater J, Smith JE, Elder JE, Rait JL, Giles P, Phakey V, Staffieri SE, Kearns LS, Dubowsky A, Mackey DA, Hewitt AW, Ruddle JB, Burdon KP, Craig JE.

Eur J Hum Genet. 2017 Jun;25(7):839-847. doi: 10.1038/ejhg.2017.59. Epub 2017 May 17. Erratum in: Eur J Hum Genet. 2017 Nov;25(11):1290.

11.

Binocular treatment of amblyopia using videogames (BRAVO): study protocol for a randomised controlled trial.

Guo CX, Babu RJ, Black JM, Bobier WR, Lam CS, Dai S, Gao TY, Hess RF, Jenkins M, Jiang Y, Kowal L, Parag V, South J, Staffieri SE, Walker N, Wadham A, Thompson B; BRAVO study team.

Trials. 2016 Oct 18;17(1):504.

12.

Clinical and molecular characterization of females affected by X-linked retinoschisis.

Staffieri SE, Rose L, Chang A, De Roach JN, McLaren TL, Mackey DA, Hewitt AW, Lamey TM.

Clin Exp Ophthalmol. 2015 Sep-Oct;43(7):643-7. doi: 10.1111/ceo.12541. Epub 2015 Jun 19.

PMID:
25894957
13.

CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma.

Souzeau E, Hayes M, Ruddle JB, Elder JE, Staffieri SE, Kearns LS, Mackey DA, Zhou T, Ridge B, Burdon KP, Dubowsky A, Craig JE.

Mol Vis. 2015 Feb 11;21:160-4. eCollection 2015.

14.

Superselective intra-arterial chemotherapy for advanced retinoblastoma complicated by metastatic disease.

Mathew AA, Sachdev N, Staffieri SE, McKenzie JD, Elder JE.

J AAPOS. 2015 Feb;19(1):72-4. doi: 10.1016/j.jaapos.2014.08.013.

PMID:
25727592
15.

Managing fetuses at high risk of retinoblastoma: lesion detection on screening MRI.

Staffieri SE, McGillivray G, Elder JE, Bristowe A, Cole S, McKenzie JD, Fink AM.

Prenat Diagn. 2015 Feb;35(2):174-8. doi: 10.1002/pd.4514. Epub 2014 Nov 27.

PMID:
25284592
16.

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.

Hysi PG, Cheng CY, Springelkamp H, Macgregor S, Bailey JNC, Wojciechowski R, Vitart V, Nag A, Hewitt AW, Höhn R, Venturini C, Mirshahi A, Ramdas WD, Thorleifsson G, Vithana E, Khor CC, Stefansson AB, Liao J, Haines JL, Amin N, Wang YX, Wild PS, Ozel AB, Li JZ, Fleck BW, Zeller T, Staffieri SE, Teo YY, Cuellar-Partida G, Luo X, Allingham RR, Richards JE, Senft A, Karssen LC, Zheng Y, Bellenguez C, Xu L, Iglesias AI, Wilson JF, Kang JH, van Leeuwen EM, Jonsson V, Thorsteinsdottir U, Despriet DDG, Ennis S, Moroi SE, Martin NG, Jansonius NM, Yazar S, Tai ES, Amouyel P, Kirwan J, van Koolwijk LME, Hauser MA, Jonasson F, Leo P, Loomis SJ, Fogarty R, Rivadeneira F, Kearns L, Lackner KJ, de Jong PTVM, Simpson CL, Pennell CE, Oostra BA, Uitterlinden AG, Saw SM, Lotery AJ, Bailey-Wilson JE, Hofman A, Vingerling JR, Maubaret C, Pfeiffer N, Wolfs RCW, Lemij HG, Young TL, Pasquale LR, Delcourt C, Spector TD, Klaver CCW, Small KS, Burdon KP, Stefansson K, Wong TY; BMES GWAS Group; NEIGHBORHOOD Consortium; Wellcome Trust Case Control Consortium 2, Viswanathan A, Mackey DA, Craig JE, Wiggs JL, van Duijn CM, Hammond CJ, Aung T.

Nat Genet. 2014 Oct;46(10):1126-1130. doi: 10.1038/ng.3087. Epub 2014 Aug 31.

17.

Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia.

Dave A, Laurie K, Staffieri SE, Taranath D, Mackey DA, Mitchell P, Wang JJ, Craig JE, Burdon KP, Sharma S.

PLoS One. 2013 Aug 27;8(8):e72518. doi: 10.1371/journal.pone.0072518. eCollection 2013.

18.

Incidence and predictors of glaucoma following surgery for congenital cataract in the first year of life in Victoria, Australia.

Ruddle JB, Staffieri SE, Crowston JG, Sherwin JC, Mackey DA.

Clin Exp Ophthalmol. 2013 Sep-Oct;41(7):653-61. doi: 10.1111/ceo.12067. Epub 2013 Mar 12.

PMID:
23332011
19.

Heritability of strabismus: genetic influence is specific to eso-deviation and independent of refractive error.

Sanfilippo PG, Hammond CJ, Staffieri SE, Kearns LS, Melissa Liew SH, Barbour JM, Hewitt AW, Ge D, Snieder H, Mackinnon JR, Brown SA, Lorenz B, Spector TD, Martin NG, Wilmer JB, Mackey DA.

Twin Res Hum Genet. 2012 Oct;15(5):624-30. doi: 10.1017/thg.2012.22. Epub 2012 Jun 13.

PMID:
22877876
20.

Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.

Edwards TL, Burt BO, Black GC, Perveen R, Kearns LS, Staffieri SE, Toomes C, Buttery RG, Mackey DA.

Clin Exp Ophthalmol. 2012 Jul;40(5):476-83. doi: 10.1111/j.1442-9071.2012.02804.x. Epub 2012 Jun 19.

PMID:
22574936
21.

Telemedicine model to prevent blindness from familial glaucoma.

Staffieri SE, Ruddle JB, Kearns LS, Barbour JM, Edwards TL, Paul P, Mackey DA.

Clin Exp Ophthalmol. 2011 Nov;39(8):760-5. doi: 10.1111/j.1442-9071.2011.02556.x. Epub 2011 Apr 27.

PMID:
21749595
22.

Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy.

Van Bergen NJ, Crowston JG, Kearns LS, Staffieri SE, Hewitt AW, Cohn AC, Mackey DA, Trounce IA.

PLoS One. 2011;6(6):e21347. doi: 10.1371/journal.pone.0021347. Epub 2011 Jun 22.

23.

Rock, paper and scissors? Traumatic paediatric cataract in Victoria 1992-2006.

Staffieri SE, Ruddle JB, Mackey DA.

Clin Exp Ophthalmol. 2010 Apr;38(3):237-41. doi: 10.1111/j.1442-9071.2010.02236.x.

PMID:
20447118

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