Sarah Hull
162 City Road, EC1V 2PD
London, ENG, United Kingdom
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 52 publications
Perspectives on screening in retinopathy of prematurity: new algorithms and AI tools.
Journal: Clinical & experimental optometry
Published: November 26, 2025
Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.
Journal: Human genetics
Published: June 20, 2025
The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1: with reclassification of p.Val606Gly as a likely benign variant.
Journal: Ophthalmic genetics
Published: November 18, 2024
Optic Atrophy From Retrograde Transsynaptic Axonal Degeneration Following Pediatric Brain Injury.
Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
Published: August 06, 2024
Variants in CFAP410 cause a range of retinal and skeletal phenotypes.
Journal: NPJ genomic medicine
Published: January 17, 2024
Optic neuropathy from hypovitaminosis A in a series of children with severe dietary restrictions.
Journal: Journal of paediatrics and child health
Published: November 27, 2023
Optic atrophy in prematurity: pathophysiology and clinical features.
Journal: Clinical & experimental optometry
Published: October 22, 2023
The spectrum of paediatric uveitis in New Zealand.
Journal: The New Zealand medical journal
Published: October 19, 2023
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Journal: Brain : a journal of neurology
Published: July 11, 2023
Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders.
Journal: bioRxiv : the preprint server for biology
Published: June 19, 2023
Harboyan syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection.
Journal: Ophthalmic genetics
Published: June 08, 2022
Last Updated: 09/26/2026