Gavin Arno

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 463 citations · Full text

Whole-genome Sequencing, Allelic Variant, Genetic Disorder +11

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

James Whitworth, Philip Smith, Jose‐Ezequiel Martín et al. · The American Journal of Human Genetics · 2018 · 70 citations · Full text

Tumor Biology, Somatic Variant, Broad Range +13

Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement

Mohammed E. El‐Asrag, Panagiotis I. Sergouniotis, Martin McKibbin et al. · The American Journal of Human Genetics · 2015 · 48 citations · Full text

Cell Autophagy, Biallelic Mutations, Early Macular Involvement +7

Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene

Nikolas Pontikos, William Woof, Siying Lin et al. · Nature Machine Intelligence · 2025 · 13 citations · Full text