Published in Clin Dysmorphol on January 01, 2001
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet (1999) 3.24
Aetiology of congenital and paediatric cataract in an Australian population. Br J Ophthalmol (2002) 1.93
Amiodarone is safe and highly effective therapy for supraventricular tachycardia in infants. Am Heart J (2001) 1.55
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. Am J Hum Genet (2001) 1.50
Investigation of crystallin genes in familial cataract, and report of two disease associated mutations. Br J Ophthalmol (2004) 1.49
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. Hum Mol Genet (2001) 1.45
Immunochemical estimation of haemoglobin types in red blood cells by FACS analysis. Br J Haematol (1994) 1.38
A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance. J Med Genet (2004) 1.37
The genetics of central corneal thickness. Br J Ophthalmol (2009) 1.17
Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension. Invest Ophthalmol Vis Sci (2001) 1.16
Retinopathy of prematurity: recent advances in our understanding. Br J Ophthalmol (2002) 1.15
Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease. J Med Genet (2002) 1.15
Retinopathy of prematurity: recent advances in our understanding. Arch Dis Child Fetal Neonatal Ed (2002) 1.12
Genetics of Hb F/F cell variance in adults and heterocellular hereditary persistence of fetal hemoglobin. Hemoglobin (1999) 1.11
Fetal hemoglobin levels in adults. Blood Rev (1994) 1.10
Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma. Clin Genet (2007) 1.03
Lack of association of p53 polymorphisms and haplotypes in high and normal tension open angle glaucoma. J Med Genet (2005) 1.03
The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes. Br J Ophthalmol (2005) 1.02
The natural history of OPA1-related autosomal dominant optic atrophy. Br J Ophthalmol (2008) 1.01
Nail-patella syndrome and its association with glaucoma: a review of eight families. Br J Ophthalmol (2006) 0.96
Accuracy and implications of a reported family history of glaucoma: experience from the Glaucoma Inheritance Study in Tasmania. Arch Ophthalmol (2000) 0.93
What is the yield of screening echocardiography in pediatric syncope? Pediatrics (2000) 0.91
No association between the -308 polymorphism in the tumour necrosis factor alpha (TNFalpha) promoter region and polycystic ovaries. Mol Hum Reprod (1999) 0.90
Phase variation of lic1A, lic2A and lic3A in colonization of the nasopharynx, bloodstream and cerebrospinal fluid by Haemophilus influenzae type b. Microbiology (1999) 0.86
Macedonian (delta beta) zero thalassemia has the same molecular basis as Turkish inversion-deletion (delta beta) zero thalassemia. Blood (1995) 0.85
Rapid detection of a 13.4-kb deletion causing delta beta thalassemia in an Egyptian family by polymerase chain reaction. Blood (1993) 0.80
Laboratory methods in ophthalmic genetics: obtaining DNA from patients. Ophthalmic Genet (2001) 0.78
Normal range of hearing associated with myocilin Thr377Met. Ophthalmic Genet (1999) 0.78
Location of the nupC gene on the physical map of Escherichia coli K-12. J Bacteriol (1992) 0.77
Genetic factors in athetoid cerebral palsy. J Child Neurol (2001) 0.77
Diabetic retinopathy is not associated with carbonic anhydrase gene polymorphisms. Mol Vis (2009) 0.77
Analysis of five Duchenne muscular dystrophy exons and gender determination using conventional duplex polymerase chain reaction on single cells. Mol Hum Reprod (1999) 0.77
Advances in telemetric continuous intraocular pressure assessment. Br J Ophthalmol (2009) 0.76
Private foundation health expenditures: a survey analysis. Bull N Y Acad Med (1979) 0.75
Pseudotrisomy 13 syndrome in siblings. Clin Dysmorphol (2000) 0.75
Mortality in primary open-angle glaucoma: 'two cupped discs and a funeral'. Eye (Lond) (2009) 0.75
beta haplotypes of three Mexican Mestizo families with Spanish (delta beta)o-thalassemia. Hemoglobin (1996) 0.75
The Taa1 restriction enzyme provides a simple means to identify the Q368STOP mutation of the myocilin gene in primary open angle glaucoma. Am J Ophthalmol (2001) 0.75
Private foundations' role in coalitions. Rep Natl Forum Hosp Health Aff (1982) 0.75