| The zebrafish eye—a paradigm for investigating human ocular genetics R Richardson, D Tracey-White, A Webster, M Moosajee Eye 31 (1), 68-86, 2017 | 179 | 2017 |
| Genetic basis of inherited retinal disease in a molecularly characterized cohort of more than 3000 families from the United Kingdom N Pontikos, G Arno, N Jurkute, E Schiff, R Ba-Abbad, S Malka, A Gimenez, ... Ophthalmology 127 (10), 1384-1394, 2020 | 149 | 2020 |
| The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye D Lima Cunha, G Arno, M Corton, M Moosajee Genes 10 (12), 1050, 2019 | 129 | 2019 |
| The oculome panel test: next-generation sequencing to diagnose a diverse range of genetic developmental eye disorders A Patel, JD Hayward, V Tailor, R Nyanhete, H Ahlfors, C Gabriel, ... Ophthalmology 126 (6), 888-907, 2019 | 83 | 2019 |
| Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model M Moosajee, D Tracey-White, M Smart, M Weetall, S Torriano, V Kalatzis, ... Human molecular genetics 25 (16), 3416-3431, 2016 | 81 | 2016 |
| Usher syndrome: clinical features, molecular genetics and advancing therapeutics M Toms, W Pagarkar, M Moosajee Therapeutic advances in ophthalmology 12, 2515841420952194, 2020 | 73 | 2020 |
| Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease M Moosajee, K Gregory-Evans, CD Ellis, MC Seabra, CY Gregory-Evans Human molecular genetics 17 (24), 3987-4000, 2008 | 70 | 2008 |
| USH2A-retinopathy: From genetics to therapeutics L Toualbi, M Toms, M Moosajee Experimental Eye Research 201, 108330, 2020 | 62 | 2020 |
| Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa K Guerin, CY Gregory-Evans, MD Hodges, M Moosajee, DS Mackay, ... Experimental eye research 87 (3), 197-207, 2008 | 58 | 2008 |
| The molecular basis of human anophthalmia and microphthalmia P Harding, M Moosajee Journal of developmental biology 7 (3), 16, 2019 | 57 | 2019 |
| Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments A Mitsios, AM Dubis, M Moosajee Therapeutic advances in ophthalmology 10, 2515841418817490, 2018 | 56 | 2018 |
| SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma CY Gregory-Evans, M Moosajee, MD Hodges, DS Mackay, L Game, ... Human Molecular Genetics 16 (20), 2482-2493, 2007 | 56 | 2007 |
| Mechanism and evidence of nonsense suppression therapy for genetic eye disorders R Richardson, M Smart, D Tracey-White, AR Webster, M Moosajee Experimental eye research 155, 24-37, 2017 | 50 | 2017 |
| Clinical utility gene card for: choroideremia M Moosajee, SC Ramsden, G Black, MC Seabra, AR Webster European Journal of Human Genetics 22 (4), 572-572, 2014 | 46 | 2014 |
| Transcriptional regulation and expression of the dominant drusen gene FBLN3 (EFEMP1) in mammalian retina J Blackburn, EE Tarttelin, CY Gregory-Evans, M Moosajee, ... Investigative ophthalmology & visual science 44 (11), 4613-4621, 2003 | 45 | 2003 |
| PAX6-related aniridia M Moosajee, M Hingorani, AT Moore | 43 | 2018 |
| Nonsyndromic retinal dystrophy due to bi-allelic mutations in the ciliary transport gene IFT140 S Hull, N Owen, F Islam, D Tracey-White, V Plagnol, GE Holder, ... Investigative ophthalmology & visual science 57 (3), 1053-1062, 2016 | 42 | 2016 |
| Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis E Balogh, JC Chandler, M Varga, M Tahoun, DK Menyhárd, G Schay, ... Proceedings of the National Academy of Sciences 117 (26), 15137-15147, 2020 | 40 | 2020 |
| Single choroideremia gene in nonmammalian vertebrates explains early embryonic lethality of the zebrafish model of choroideremia M Moosajee, M Tulloch, RA Baron, CY Gregory-Evans, JB Pereira-Leal, ... Investigative ophthalmology & visual science 50 (6), 3009-3016, 2009 | 39 | 2009 |
| Molecular diagnostic challenges for non‐retinal developmental eye disorders in the United Kingdom D Jackson, S Malka, P Harding, J Palma, H Dunbar, M Moosajee American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2020 | 37 | 2020 |
