List of works - Jamie E Craig

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

scientific article published on 21 December 2015

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

scientific article published in May 1999

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1

article

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

scientific article published on 12 September 2010

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

scientific article

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

scientific article

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

scientific article published on 06 January 2013

Null mutations in LTBP2 cause primary congenital glaucoma

scientific article published on 09 April 2009

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

article

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

scientific article

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy

scientific article

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

scientific article

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

scientific article

A systematic meta-analysis of genetic association studies for diabetic retinopathy

scientific article published on 08 July 2009

Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness

scientific article

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

scientific article published on 11 January 2016

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma

scientific article

Genome-wide association identifies ATOH7 as a major gene determining human optic disc size

scientific article

Central corneal thickness is highly heritable: the twin eye studies

scientific article

Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma

scientific article (publication date: November 2003)

Aetiology of congenital and paediatric cataract in an Australian population

scientific article published on July 2002

Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract

scientific article published in May 2009

Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus

scientific article published on 31 October 2011

The path to open-angle glaucoma gene discovery: endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness

scientific article

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

scientific article (publication date: 15 June 2001)

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

scientific article

Myocilin allele-specific glaucoma phenotype database

scientific article published on February 2008

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error

scientific article

A common variant near TGFBR3 is associated with primary open angle glaucoma.

scientific article published on 10 April 2015

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

scientific article published on 06 June 2016

Functional and structural implications of the complement factor H Y402H polymorphism associated with age-related macular degeneration

scientific article published on 8 February 2008

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy

scientific article

Autosomal Dominant Optic Atrophy: Penetrance and Expressivity in Patients With OPA1 Mutations

scientific article published on 15 February 2007

The genetics of central corneal thickness

scientific article published on 24 June 2009

Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.

scientific article published on January 2004

Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity

scientific article

Mutational analysis of MIR184 in sporadic keratoconus and myopia

scientific article published on 5 August 2013

Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci

scientific article published on 5 September 2008

Complex genetics of complex traits: the case of primary open-angle glaucoma

scientific article published on July 2006

Intravitreal triamcinolone-induced elevated intraocular pressure is associated with the development of posterior subcapsular cataract

scientific article published in January 2005

Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.

scientific article

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

scientific article published on 29 March 2016

Common sequence variation in the VEGFA gene predicts risk of diabetic retinopathy

scientific article published on 24 June 2009

Glaucoma risk alleles at CDKN2B-AS1 are associated with lower intraocular pressure, normal-tension glaucoma, and advanced glaucoma

scientific article published on 21 April 2012

Immunochemical estimation of haemoglobin types in red blood cells by FACS analysis

scientific article published on 01 May 1994

Genetic dissection of acute anterior uveitis reveals similarities and differences in associations observed with ankylosing spondylitis

scientific article

Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease

scientific article

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma

scientific article

Clinical comparison of the Icare tonometer and Goldmann applanation tonometry

scientific article

The natural history of OPA1-related autosomal dominant optic atrophy

scientific article published on 24 July 2008

List of works by Jamie E Craig

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

Null mutations in LTBP2 cause primary congenital glaucoma

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

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

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

A systematic meta-analysis of genetic association studies for diabetic retinopathy

Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma

Genome-wide association identifies ATOH7 as a major gene determining human optic disc size

Central corneal thickness is highly heritable: the twin eye studies

Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma

Aetiology of congenital and paediatric cataract in an Australian population

Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract

Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus

The path to open-angle glaucoma gene discovery: endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

Myocilin allele-specific glaucoma phenotype database

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error

A common variant near TGFBR3 is associated with primary open angle glaucoma.

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

Functional and structural implications of the complement factor H Y402H polymorphism associated with age-related macular degeneration

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy

Autosomal Dominant Optic Atrophy: Penetrance and Expressivity in Patients With OPA1 Mutations

The genetics of central corneal thickness

Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.

Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity

Mutational analysis of MIR184 in sporadic keratoconus and myopia

Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci

Complex genetics of complex traits: the case of primary open-angle glaucoma

Intravitreal triamcinolone-induced elevated intraocular pressure is associated with the development of posterior subcapsular cataract

Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

Common sequence variation in the VEGFA gene predicts risk of diabetic retinopathy

Glaucoma risk alleles at CDKN2B-AS1 are associated with lower intraocular pressure, normal-tension glaucoma, and advanced glaucoma

Immunochemical estimation of haemoglobin types in red blood cells by FACS analysis

Genetic dissection of acute anterior uveitis reveals similarities and differences in associations observed with ankylosing spondylitis

Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma

Clinical comparison of the Icare tonometer and Goldmann applanation tonometry

The natural history of OPA1-related autosomal dominant optic atrophy