Helen J. Kuht

Impact of COVID-19 pandemic and lockdown on eye emergencies

Alicia Poyser, Sundeep S. Deol, Lina Osman et al. · European Journal of Ophthalmology · 2020 · 70 citations · Full text

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia

Helen J. Kuht, Gail Maconachie, Jinu Han et al. · Ophthalmology · 2022 · 59 citations · Full text

SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization

Helen J. Kuht, Jinu Han, Gail Maconachie et al. · Human Molecular Genetics · 2020 · 38 citations · Full text

Ocular Disease, Signal Transduction, Developmental Biology +14

Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease

Jane I. Grove, Peggy Lo, Nick Shrine et al. · JHEP Reports · 2023 · 21 citations · Full text

Metabolic Syndrome, Metabolic Associated Steatohepatitis, Rare Mttp Variant +11

Congenital monocular elevation deficiency associated with a novel<i>TUBB3</i>gene variant

Mervyn G. Thomas, Gail Maconachie, Cris S. Constantinescu et al. · British Journal of Ophthalmology · 2019 · 17 citations · Full text