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 · 484 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

James H. R. Farmery, Mike L. Smith, Aarnoud Huissoon et al. · Scientific Reports · 2018 · 90 citations · Full text

Life Sciences, Cell Biology, Genetics +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 · 73 citations · Full text

Life Sciences, Genetics, Oncology +17

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 · 49 citations · Full text

Medicine, Genetics, Molecular Genetics +14

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

Nikolas Pontikos, William Woof, Siying Lin et al. · Nature Machine Intelligence · 2025 · 22 citations · Full text

Medicine, Genetics, Ophthalmology +17