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Human equivalent doses of l-DOPA rescues retinal morphology and visual function in a murine model of albinism

Scientific reports, 2023-10, Vol.13 (1), p.17173-17173, Article 17173

2023

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Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)

Scientific reports, 2017-06, Vol.7 (1), p.4415-9, Article 4415

2017

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A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping

Scientific reports, 2019-09, Vol.9 (1), p.13229-8, Article 13229

2019

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Characterization of the Frmd7 Knock-Out Mice Generated by the EUCOMM/COMP Repository as a Model for Idiopathic Infantile Nystagmus (IIN)

Genes, 2020-10, Vol.11 (10), p.1157

2020

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Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)

Npj genomic medicine, 2022-01, Vol.7 (1), p.2-2, Article 2

2022

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Comparison of the handheld RETeval ERG system with a routine ERG system in healthy adults and in paediatric patients

Eye (London), 2021-08, Vol.35 (8), p.2180-2189

2021

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How do you manage a child presenting with apparently isolated nystagmus?

Paediatrics and child health, 2023-12, Vol.33 (12), p.395-400

2023

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Oral levodopa rescues retinal morphology and visual function in a murine model of human albinism

Pigment cell and melanoma research, 2019-09, Vol.32 (5), p.657-671

2019

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Atropine Penalization Versus Occlusion Therapies for Unilateral Amblyopia after the Critical Period of Visual Development: A Systematic Review

Ophthalmology and therapy, 2018-12, Vol.7 (2), p.323-332

2018

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A severe case of Bosch–Boonstra–Schaaf optic atrophy syndrome with a novel description of coloboma and septo‐optic dysplasia, owing to a start codon variant in the NR2F1 gene

American journal of medical genetics. Part A, 2022-03, Vol.188 (3), p.900-906

2022

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Is This Actually CIN?

Pediatric neurology, 2015-09, Vol.53 (3), p.e11-e11

2015

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Correction: Comparison of the handheld RETeval ERG system with a routine ERG system in healthy adults and in paediatric patients

Eye (London), 2021-10, Vol.35 (10), p.2907-2907

2021

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Children's visual acuity tests without professional supervision: a prospective repeated measures study

Eye (London), 2023-12, Vol.37 (18), p.3762-3767

2023

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A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis

Brain (London, England : 1878), 2017-03, Vol.140 (3), p.547-554

2017

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Minimal reporting guideline for research involving eye tracking (2023 edition)

Behavior research methods, 2023-07, Vol.56 (5), p.4351-4357

2023

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Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia

European journal of human genetics : EJHG, 2023-03, Vol.31 (3), p.353-359

2023

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Novel therapeutics in nystagmus: what has the genetics taught us so far?

Therapeutic Advances in Rare Disease, 2021-01, Vol.2, p.2633004021998714-2633004021998714

2021

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Aetiologies of acquired pediatric sixth nerve palsies in a U.K. based population

Strabismus, 2022-10, Vol.30 (4), p.196-199

2022

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The potential and value of objective eye tracking in the ophthalmology clinic

Eye (London), 2019-08, Vol.33 (8), p.1200-1202

2019

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Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families

Eye (London), 2019-08, Vol.33 (8), p.1339-1346

2019

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Comparison of mouse and human retinal morphology and function in albinism: potential implications for therapeutic development

The Lancet (British edition), 2017-02, Vol.389, p.S59-S59

2017

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BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan

Annals of human genetics, 2019-11, Vol.83 (6), p.477-482

2019

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Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients

Scientific reports, 2019-02, Vol.9 (1), p.3100, Article 3100

2019

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Delineating the expanding phenotype associated with SCAPER gene mutation

American journal of medical genetics. Part A, 2019-08, Vol.179 (8), p.1665-1671

2019

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Human equivalent doses of l-DOPA rescues retinal morphology and visual function in a murine model of albinism

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping

Characterization of the Frmd7 Knock-Out Mice Generated by the EUCOMM/COMP Repository as a Model for Idiopathic Infantile Nystagmus (IIN)

Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)

Comparison of the handheld RETeval ERG system with a routine ERG system in healthy adults and in paediatric patients

How do you manage a child presenting with apparently isolated nystagmus?

Oral levodopa rescues retinal morphology and visual function in a murine model of human albinism

Atropine Penalization Versus Occlusion Therapies for Unilateral Amblyopia after the Critical Period of Visual Development: A Systematic Review

A severe case of Bosch–Boonstra–Schaaf optic atrophy syndrome with a novel description of coloboma and septo‐optic dysplasia, owing to a start codon variant in the NR2F1 gene

Is This Actually CIN?

Correction: Comparison of the handheld RETeval ERG system with a routine ERG system in healthy adults and in paediatric patients

Children's visual acuity tests without professional supervision: a prospective repeated measures study

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis

Minimal reporting guideline for research involving eye tracking (2023 edition)

Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia

Novel therapeutics in nystagmus: what has the genetics taught us so far?

Aetiologies of acquired pediatric sixth nerve palsies in a U.K. based population

The potential and value of objective eye tracking in the ophthalmology clinic

Author Correction: Minimal reporting guideline for research involving eye tracking (2023 edition)

Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families

Comparison of mouse and human retinal morphology and function in albinism: potential implications for therapeutic development

BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan

Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients

Delineating the expanding phenotype associated with SCAPER gene mutation

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