Web Access Research Portal

Researcher: Craig, JE (Mr Jamie Craig)

Fields of Research

Ophthalmology
Medical Genetics (excl. Cancer Genetics)
Epidemiology
Population, Ecological and Evolutionary Genetics
Genetics
Genome Structure and Regulation
Rheumatology and Arthritis

Research Objectives

Hearing, Vision, Speech and Their Disorders
Inherited Diseases (incl. Gene Therapy)
Skeletal System and Disorders (incl. Arthritis)
Child Health

Career Best Publications

Research Publications

A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance; Journal of Medical Genetics
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye; Americal Journal of Human Genetics
Accuracy and implications of a reported family history of glaucoma - Experience from the glaucoma inheritance study in Tasmania; Archives of Ophthalmology
Aetiology of congenital and paediatric cataract in an Australian population; British journal of ophthalmology
Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin; Human genetics
Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the Blue Mountains Eye Study; Clinical and Experimental Ophthalmology
Association of genetic variation with keratoconus; JAMA Ophthalmology
Attitudes to Predictive DNA Testing for Myocilin Glaucoma Experience with a Large Australian Family; Journal of Glaucoma
Broad Phenotypic variability in a Single Pedigree With a Novel 1410delC Mutation in the PST Domain of the PAX6 Gene; Human Mutation
Confirmation of the Adult-Onset Primary Open Angle Glaucoma Locus GLC1B at 2cen-q13 in an Australian Family; Ophthalmologica
Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease; Journal of Medical Genetics
Evaluation of optineurin sequence variations in 1048 patients with open-angle glaucoma; American Journal of Ophthalmology
Evaluation of the Myocilin (MYOC) Glaucoma Gene in Monkey and Human Steroid-Induced Ocular Hypertension; Investigative Ophthalmology & Visual Science
Evidence for Genetic Heterogeneity within Eight Glaucoma Families, with the GLC1A Gln368STOP Mutation Being an Important Phenotypic Modifier; Ophthalmology
Familial aggregation of glaucoma: Experience with the glaucoma inheritance study in Tasmania (GIST); Annual Meeting
Glaucoma Inheritance Study in Tasmania: An International Collaboration; American Academy of Ophthalmology Basic Sciences Course Section 13 Internaltional Ophthalmology, Part 5. Collaborative Research
Glaucoma phenotype in pedigrees with the Myocilin Thr377Met mutation; Archives of ophthalmology
Hereditary Hyperferritinemia -Cataract Syndrome: Prevalence, lens morphology and spectrum of mutations and clinical presentations; Archives of Opthalmology
How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania; Clinical and Experimental Ophthalmology
Inheritance of paediatric and congenital cataracts; Annual Meeting
Investigation of crystallin genes in familial cataract, and report of two disease associated mutations; British Journal of Ophthalmology
Investigation of the prevalence of the myocilin Q368STOP mutation in Ugandan glaucoma patients; Ophthalmic Genetics
Laboratory methods in ophthalmic genetics: obtaining DNA from patients; Ophthalmic Genetics
Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation; American Journal of Human Genetics
Phenotypic variability in a large aniridia pedigree with a novel PAX6 1410delC; Annual Meeting
Predictive DNA testing for glaucoma: Reality in 2003; Ophthalmology clinics of North America
Retinopathy of prematurity: recent advances in our understanding; Archives of Disease in Childhood
Retinopathy of prematurity: recent advances in our understanding; British Journal of Ophthalmology
Screening for glaucomatous disc changes prior to diagnosis of glaucoma in myocilin pedigrees; Archives of Ophthalmology
The apolipoprotein epsilon 4 gene is associated with elevated risk of normal tension glaucoma; Molecular Vision
The pathogenesis of the glaucoma: nature versus nurture; Clinical and Experimental Ophthalmology
The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes; British Journal of Ophthalmology
Tonography demonstrates reduced facility of outflow of aqueous humour in myocilin mutation carriers; Journal of Glaucoma

Research Projects

Genetic Studies of Paediatric Cataract in South-Eastern Australia; Ophthalmic Research Institute of Australia (ORIA)
Present a paper at the American Society of Human Genetics meeting in San Francisco in October 1999; Ian Potter Foundation (IPF)

Research Candidate Supervision