| Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa L Li, X Jiao, I D’Atri, F Ono, R Nelson, CC Chan, N Nakaya, Z Ma, Y Ma, ... PLoS genetics 14 (8), e1007504, 2018 | 37 | 2018 |
| Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature S Lin, GV Harlalka, A Hameed, HM Reham, M Yasin, N Muhammad, ... BMC medical genetics 19, 1-8, 2018 | 20 | 2018 |
| Visual impairment certification due to diabetic retinopathy in North and Eastern Devon S Lin, B Gupta, N James, RH Ling Acta Ophthalmologica 95 (8), e756-e762, 2017 | 20 | 2017 |
| BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan S Khan, S Lin, GV Harlalka, A Ullah, K Shah, S Khalid, S Mehmood, ... Annals of human genetics 83 (6), 477-482, 2019 | 18 | 2019 |
| Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of … M Shakil, GV Harlalka, S Ali, S Lin, I D’Atri, S Hussain, A Nasir, ... Eye 33 (8), 1339-1346, 2019 | 16 | 2019 |
| Mutations in TYR and OCA2 associated with oculocutaneous albinism in Pakistani families MW Arshad, GV Harlalka, S Lin, I D'Atri, S Mehmood, M Shakil, ... Meta Gene 17, 48-55, 2018 | 16 | 2018 |
| Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B) S Lin, A Sanchez-Bretaño, JS Leslie, KB Williams, H Lee, NS Thomas, ... NPJ Genomic Medicine 7 (1), 2, 2022 | 13 | 2022 |
| Spectrum of genetic variants in the most common genes causing inherited retinal disease in a large molecularly characterized United Kingdom cohort S Lin, S Vermeirsch, N Pontikos, MP Martin-Gutierrez, MD Varela, ... Ophthalmology Retina 8 (7), 699-709, 2024 | 12 | 2024 |
| Delineating the expanding phenotype associated with SCAPER gene mutation J Fasham, G Arno, S Lin, M Xu, KJ Carss, S Hull, A Lane, AG Robson, ... American Journal of Medical Genetics Part A 179 (8), 1665-1671, 2019 | 12 | 2019 |
| Long-term outcome of mitomycin C-augmented needle revision of trabeculectomy blebs for late trabeculectomy failure S Lin, D Byles, M Smith Eye 32 (12), 1893-1899, 2018 | 12 | 2018 |
| Real-time visualisation of anaesthetic fluid localisation following incisionless sub-Tenon block S Lin, RH Ling, KG Allman Eye 28 (4), 497, 2014 | 8 | 2014 |
| Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach S Best, J Yu, J Lord, M Roche, CM Watson, RPJ Bevers, A Stuckey, ... Journal of Medical Genetics 59 (12), 1151-1164, 2022 | 6 | 2022 |
| Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency J Fasham, S Lin, P Ghosh, FC Radio, EG Farrow, I Thiffault, J Kussman, ... Genetics in Medicine 24 (3), 631-644, 2022 | 5 | 2022 |
| Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency S Lin, J Fasham, F Al-Hijawi, N Qutob, A Gunning, JS Leslie, L McGavin, ... European Journal of Human Genetics 29 (10), 1570-1576, 2021 | 4 | 2021 |
| Sex distributions in Non-ABCA4 autosomal macular dystrophies AV Mishra, S Vermeirsch, S Lin, MP Martin-Gutierrez, M Simcoe, ... Investigative Ophthalmology & Visual Science 65 (5), 9-9, 2024 | 3 | 2024 |
| Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families M Dawood, S Lin, TU Din, IU Shah, N Khan, A Jan, M Marwan, K Sultan, ... International Journal of Ophthalmology 14 (12), 1843, 2021 | 3 | 2021 |
| Novel ocular findings with 5p deletion and partial trisomy of distal 4q S Lin, L Rawlins, C Turner, E Doyle, T Sleep Canadian Journal of Ophthalmology 53 (3), e89-e90, 2018 | 3 | 2018 |
| Perimetric demonstration of spontaneous visual field recovery following occipital lobe haemorrhage S Lin, BZ George, NJ Wilson-Holt Case Reports 2013, bcr2013010494, 2013 | 3 | 2013 |
| Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families J Khan, S Asif, S Ghani, H Khan, MW Arshad, SA Khan, S Lin, EL Baple, ... BMC ophthalmology 24 (1), 345, 2024 | 2 | 2024 |
| Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis SS Cornelis, J IntHout, EH Runhart, O Grunewald, S Lin, Z Corradi, ... JAMA ophthalmology 142 (5), 463-471, 2024 | 2 | 2024 |
