Gavin Arno
Moorfields Eye Hospital NHS Foundation Trust(GB)Great Ormond Street Hospital for Children NHS Foundation Trust(GB)National Institute for Health Research(GB)Institute of Ophthalmology(MX)Greenwood Genetic Center(US)Moorfields Eye Hospital(GB)University College London(GB)
Publications by Year
Research Areas
Retinal Development and Disorders, Retinal Diseases and Treatments, Genomics and Rare Diseases, RNA regulation and disease, Connective tissue disorders research
Most-Cited Works
- → Whole-genome sequencing of patients with rare diseases in a national health system(2020)568 cited
- → Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom(2020)248 cited
- → Whole-genome sequencing of a sporadic primary immunodeficiency cohort(2020)234 cited
- → Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides(2019)195 cited
- → Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing(2018)195 cited
- → The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye(2019)191 cited