Arno, Gavin

Whole-genome sequencing of patients with rare diseases in a national health system

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 554

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Ito, Y., Carss, K. J., Duarte, S. T., Hartley, T., Keren, B., Kurian, M. A., Marey, I., Charles, P., Mendonça, C., Nava, C., et al. (2018) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 41

The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

Chrystal, P. W., Lambacher, N. J., Doucette, L. P., Bellingham, J., Schiff, E. R., Noel, N. C. L., Li, C., Tsiropoulou, S., Casey, G. A., Zhai, Y., et al. (2022) · Nature Communications

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 31

Vitamin A deficiency due to bi-allelic mutation of RBP4: There’s more to it than meets the eye

Khan, K. N., Carss, K., Raymond, F. L., Islam, F., NIHR BioResource-Rare Diseases Consortium, Moore, A. T., Michaelides, M., & Arno, G. (2017) · Ophthalmic Genetics

Retinal Development and DisordersRetinoids in leukemia and cellular processes

Cited by 26

Macula-predominant retinopathy associated with biallelic variants in RDH12

Ba-Abbad, R., Arno, G., Robson, A. G., Bouras, K., Georgiou, M., Wright, G., Webster, A. R., & Michaelides, M. (2020) · Ophthalmic Genetics

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 16