| MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma I Conte, KD Hadfield, S Barbato, S Carrella, M Pizzo, RS Bhat, ... Proceedings of the National Academy of Sciences 112 (25), E3236-E3245, 2015 | 106 | 2015 |
| ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components M Rohrbach, HL Spencer, LF Porter, EMM Burkitt-Wright, C Bürer, ... Molecular genetics and metabolism 109 (3), 289-295, 2013 | 75 | 2013 |
| Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus J Lechner, LF Porter, A Rice, V Vitart, DJ Armstrong, DF Schorderet, ... Human molecular genetics 23 (20), 5527-5535, 2014 | 69 | 2014 |
| Brittle cornea syndrome: recognition, molecular diagnosis and management EMM Burkitt Wright, LF Porter, HL Spencer, J Clayton-Smith, L Au, ... Orphanet journal of rare diseases 8, 1-11, 2013 | 68 | 2013 |
| Whole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4 … LF Porter, N Saptarshi, Y Fang, S Rathi, AI Den Hollander, EK De Jong, ... Clinical epigenetics 11, 1-14, 2019 | 52 | 2019 |
| Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy H Liao, AD Irvine, CJ MacEwen, KH Weed, L Porter, LD Corden, ... PloS one 6 (12), e28582, 2011 | 50 | 2011 |
| PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus ML Khaled, Y Bykhovskaya, C Gu, A Liu, MD Drewry, Z Chen, BA Mysona, ... Scientific reports 9 (1), 19406, 2019 | 34 | 2019 |
| Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature … P Maillard, S Baer, É Schaefer, B Desnous, N Villeneuve, A Lépine, ... Epilepsia 63 (10), 2519-2533, 2022 | 32 | 2022 |
| Personalized ophthalmology LF Porter, GCM Black Clinical genetics 86 (1), 1-11, 2014 | 28 | 2014 |
| Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome LF Porter, R Gallego-Pinazo, CL Keeling, M Kamieniorz, N Zoppi, ... Orphanet journal of rare diseases 10, 1-9, 2015 | 24 | 2015 |
| A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome LF Porter, GG Galli, S Williamson, J Selley, D Knight, N Elcioglu, A Aydin, ... Human molecular genetics 24 (23), 6565-6579, 2015 | 22 | 2015 |
| Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35. 1-q35. 2 LF Porter, JE Urquhart, E O'Donoghue, AF Spencer, EM Wade, ... Investigative ophthalmology & visual science 52 (11), 7859-7865, 2011 | 18 | 2011 |
| Integrated microarray and RNAseq transcriptomic analysis of retinal pigment epithelium/choroid in age-related macular degeneration D Dhirachaikulpanich, X Li, LF Porter, L Paraoan Frontiers in Cell and Developmental Biology 8, 808, 2020 | 17 | 2020 |
| Pseudophakic cystoid macular edema and spectral-domain optical coherence tomography–detectable central macular thickness changes with perioperative prostaglandin analogs A Walkden, LF Porter, J Morarji, SP Kelly, E Sioras Journal of Cataract & Refractive Surgery 43 (8), 1027-1030, 2017 | 16 | 2017 |
| MRSA and cataract surgery–reflections for practice LF Porter, RU Khan, A Hannan, SP Kelly Clinical Ophthalmology, 1223-1227, 2010 | 11 | 2010 |
| Epigenetic age acceleration is not associated with age-related macular degeneration N Saptarshi, D Green, A Cree, A Lotery, L Paraoan, LF Porter International Journal of Molecular Sciences 22 (24), 13457, 2021 | 8 | 2021 |
| Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation L Mauring, LF Porter, V Pelletier, A Riehm, AS Leuvrey, A Gouronc, ... Frontiers in Genetics 11, 938, 2020 | 8 | 2020 |
| Total Parenteral Nutrition, Vitamin E and Reversible Macular Dysfunction Morphologically Mimicking Age-Related Macular Degeneration L Porter, R N, E JD British Journal Ophthalmology 89, 1531-2, 2005 | 7 | 2005 |
| PERK/EIF2AK3 integrates endoplasmic reticulum stress-induced apoptosis, oxidative stress and autophagy responses in immortalised retinal pigment epithelial cells N Saptarshi, LF Porter, L Paraoan Scientific reports 12 (1), 13324, 2022 | 6 | 2022 |
| Brittle cornea syndrome: A systemic review of disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years P Skalicka, LF Porter, K Brejchova, F Malinka, L Dudakova, P Liskova Biomedical papers, 2019 | 5 | 2019 |
