Louise F. Porter

MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma

Iván Conte, Kristen D. Hadfield, Sara Barbato et al. · Proceedings of the National Academy of Sciences · 2015 · 114 citations · Full text

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Marianne Rohrbach, Helen Spencer, Louise F. Porter et al. · Molecular Genetics and Metabolism · 2013 · 85 citations · Full text

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus

Judith Lechner, Louise F. Porter, Aine Rice et al. · Human Molecular Genetics · 2014 · 71 citations · Full text

Genetics, Genetic Epidemiology, Molecular Genetics +16

Whole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes

Louise F. Porter, Neil Saptarshi, Yongxiang Fang et al. · Clinical Epigenetics · 2019 · 56 citations · Full text

PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus

Mariam Lofty Khaled, Yelena Bykhovskaya, Chunfang Gu et al. · Scientific Reports · 2019 · 53 citations · Full text