Louise F Porter

Louise F Porter

University of Liverpool - Liverpool / United Kingdom
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 1534556
person_outline Louise F Porter's MOST POPULAR ARTICLES
1-) MiR-204 is responsible for inherited retinal dystrophy associated with ocular colobomaI Conte, KD Hadfield, S Barbato, S Carrella, M Pizzo, RS Bhat, ...Proceedings of the National Academy of Sciences 112 (25), E3236-E3245, 2015812015
2-) ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix componentsM Rohrbach, HL Spencer, LF Porter, EMM Burkitt-Wright, C Bürer, ...Molecular genetics and metabolism 109 (3), 289-295, 2013762013
3-) Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconusJ Lechner, LF Porter, A Rice, V Vitart, DJ Armstrong, DF Schorderet, ...Human molecular genetics 23 (20), 5527-5535, 2014712014
4-) Brittle cornea syndrome: recognition, molecular diagnosis and managementEMM Burkitt Wright, LF Porter, HL Spencer, J Clayton-Smith, L Au, ...Orphanet journal of rare diseases 8, 1-11, 2013712013
5-) 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, 2019562019