| # | Title | Journal | Year | Citations |
|---|
| 1 | A review of the ocular manifestations | Ophthalmic Genetics | 1997 | 209 |
| 2 | The Retinal Ciliopathies | Ophthalmic Genetics | 2007 | 181 |
| 3 | Second primary tumors in patients with retinoblastoma a review of the literature | Ophthalmic Genetics | 1997 | 143 |
| 4 | A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy | Ophthalmic Genetics | 2002 | 136 |
| 5 | ABCR unites what ophthalmologists divide(s) | Ophthalmic Genetics | 1998 | 115 |
| 6 | RPE65: Role in the Visual Cycle, Human Retinal Disease, and Gene Therapy | Ophthalmic Genetics | 2009 | 112 |
| 7 | Classification and Management of Seeds in RetinoblastomaEllsworth Lecture Ghent August 24th 2013 | Ophthalmic Genetics | 2014 | 111 |
| 8 | Ocular findings in 55 patients with Down's syndrome | Ophthalmic Genetics | 1996 | 110 |
| 9 | Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy | Ophthalmic Genetics | 2008 | 105 |
| 10 | Choroideremia: A review of general findings and pathogenesis | Ophthalmic Genetics | 2012 | 105 |
| 11 | Molecular heterogeneity in retinitis pigmentosa: More mutations | Ophthalmic Genetics | 1994 | 102 |
| 12 | Is pseudoexfoliation syndrome inherited? A review of genetic and nongenetic factors and a new observation | Ophthalmic Genetics | 1998 | 100 |
| 13 | Mutational analysis and clinical correlation in Leber congenital amaurosis | Ophthalmic Genetics | 2000 | 96 |
| 14 | Update on the Morning Glory Disc Anomaly | Ophthalmic Genetics | 2008 | 94 |
| 15 | Update on the molecular genetics of retinitis pigmentosa | Ophthalmic Genetics | 2001 | 91 |
| 16 | Natural History of Phenotypic Changes in Stargardt Macular Dystrophy | Ophthalmic Genetics | 2009 | 91 |
| 17 | Apoptosis in ocular disease: a molecular overview | Ophthalmic Genetics | 1996 | 89 |
| 18 | The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review | Ophthalmic Genetics | 2003 | 87 |
| 19 | Allelic and phenotypic heterogeneity inABCA4mutations | Ophthalmic Genetics | 2011 | 85 |
| 20 | Gene therapy for RPE65-related retinal disease | Ophthalmic Genetics | 2018 | 85 |
| 21 | Ocular manifestations in Fabry disease: a survey of 32 hemizygous male patients | Ophthalmic Genetics | 2003 | 84 |
| 22 | Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options | Ophthalmic Genetics | 2018 | 82 |
| 23 | Osteosarcoma following retinoblastoma: Age at onset and latency period | Ophthalmic Genetics | 2001 | 81 |
| 24 | Inherited retinal diseases are the most common cause of blindness in the working-age population in Australia | Ophthalmic Genetics | 2021 | 75 |
| 25 | Variant Phenotype of Best Vitelliform Macular Dystrophy Associated with Compound Heterozygous Mutations inVMD2 | Ophthalmic Genetics | 2006 | 74 |
| 26 | Developmental Basis of Nanophthalmos:MFRPIs Required for both Prenatal Ocular Growth and Postnatal Emmetropization | Ophthalmic Genetics | 2008 | 72 |
| 27 | Ocular manifestations of autosomal recessive Alport syndrome | Ophthalmic Genetics | 1997 | 64 |
| 28 | Prostaglandins in the eye: Function, expression, and roles in glaucoma | Ophthalmic Genetics | 2017 | 64 |
| 29 | The heritability of strabismus | Ophthalmic Genetics | 1994 | 63 |
| 30 | Second nonocular cancers in retinoblastoma: a unified hypothesis The Franceschetti Lecture | Ophthalmic Genetics | 1999 | 62 |
| 31 | Clinical features and molecular genetics of Von Hippel-Lindau disease | Ophthalmic Genetics | 1995 | 61 |
| 32 | Mutational analysis and clinical correlation in Leber congenital amaurosis | Ophthalmic Genetics | 2000 | 60 |
| 33 | New insights into the pathogenesis of choroideremia: a tale of two REPs | Ophthalmic Genetics | 1996 | 59 |
| 34 | CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation | Ophthalmic Genetics | 2001 | 59 |
| 35 | Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview | Ophthalmic Genetics | 2004 | 58 |
| 36 | Phenotypic Overlap of Familial Exudative Vitreoretinopathy (FEVR) with Persistent Fetal Vasculature (PFV) Caused byFZD4Mutations in two Distinct Pedigrees | Ophthalmic Genetics | 2009 | 57 |
| 37 | The blinding mechanisms of incontinentia pigmenti | Ophthalmic Genetics | 1994 | 55 |
| 38 | Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene | Ophthalmic Genetics | 1996 | 55 |
| 39 | Association of VEGF Gene Polymorphisms with Diabetic Retinopathy in a South Indian Cohort | Ophthalmic Genetics | 2008 | 55 |
| 40 | The D144E Substitution in theVSX1Gene: A Non-pathogenic Variant or a Disease Causing Mutation? | Ophthalmic Genetics | 2008 | 55 |
| 41 | Published International Classification of Retinoblastoma (ICRB) Definitions Contain Inconsistencies—An Analysis of Impact | Ophthalmic Genetics | 2009 | 55 |
| 42 | Severe retinopathy of prematurity associated withFZD4mutations | Ophthalmic Genetics | 2010 | 55 |
| 43 | Gene therapy in inherited retinal degenerative diseases, a review | Ophthalmic Genetics | 2018 | 55 |
| 44 | A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy | Ophthalmic Genetics | 1995 | 53 |
| 45 | Identification of a new ‘TIGR’ mutation in a family with juvenile-onset primary open angle glaucoma | Ophthalmic Genetics | 1997 | 53 |
| 46 | Evaluation of the ELOVL4 gene in patients with age-related macular degeneration | Ophthalmic Genetics | 2001 | 53 |
| 47 | PAX6Mutations May Be Associated with High Myopia | Ophthalmic Genetics | 2007 | 53 |
| 48 | The Effect of Therapy Refusal Against Medical Advice in Retinoblastoma Patients in a Setting Where Treatment Delays are Common | Ophthalmic Genetics | 2009 | 53 |
| 49 | Morning glory disk anomaly, choroidal coloboma, and congenital constrictive malformations of the internal carotid arteries (moyamoya disease) | Ophthalmic Genetics | 2000 | 52 |
| 50 | Color vision testing | Ophthalmic Genetics | 2004 | 51 |
