Andrew Royston Webster

Andrew Royston Webster

Inherited Eye Diseases, Ucl Institute Of Ophthalmology, London, And Moorfields Eye Hospital Nhs Trust, London, United Kingdom

Direct Impact

Concepts for which Andrew Royston Webster has direct influence:

retinitis pigmentosa
visual acuity
retinal dystrophy
fundus autofluorescence
leber congenital amaurosis
molecular genetic
usher syndrome

External impact

Concepts related to the work of other authors for which Andrew Royston Webster has influence:

retinitis pigmentosa
usher syndrome
cone dystrophy
retinal degeneration
visual acuity
nonsense mutations
optical coherence tomography

Prominent publications by Andrew Royston Webster

KOL-Index: 176 The development of computational methods to assess pathogenicity of pre-messenger RNA splicing variants is critical for diagnosis of human disease. We assessed the capability of eight algorithms, and a consensus approach, to prioritize 249 variants of uncertain significance (VUSs) that underwent splicing functional analyses. The capability of algorithms to differentiate VUSs away from the ...
Known for
Rare Disorders | Uncertain Significance | Silico Strategies | Splice Site
KOL-Index: 79 X-linked retinopathies represent a significant proportion of monogenic retinal disease. They include progressive and stationary conditions, with and without syndromic features. Many are X-linked recessive, but several exhibit a phenotype in female carriers, which can help establish diagnosis and yield insights into disease mechanisms. The presence of affected carriers can misleadingly ...
Known for
Syndromic Features | Rpgr
KOL-Index: 71 Usher syndrome (USH) is the most common cause of deaf–blindness in humans. It is a clinically and genetically heterogeneous disorder, for which 10 causative genes have been identified so far. The USH genes encode a number of structurally and functionally distinct proteins that form complexes in the inner ear and retina essential for hearing and vision. Animal studies have indicated that the ...
Known for
Ear Retina | Strategies Usher | Proteins Ush
KOL-Index: 56 OBJECTIVE: Autosomal dominant optic atrophy (ADOA) starts in early childhood with loss of visual acuity and color vision deficits. OPA1 mutations are responsible for the majority of cases, but in a portion of patients with a clinical diagnosis of ADOA, the cause remains unknown. This study aimed to identify novel ADOA-associated genes and explore their causality. METHODS: Linkage analysis ...
Known for
Atrophy Adoa | Degeneration Mutated | Ssbp1 Single | Multigeneration
KOL-Index: 54 Between 5 and 70% of genetic disease is caused by in-frame nonsense mutations, which introduce a premature termination codon (PTC) within the disease-causing gene. Consequently, during translation, non-functional or gain-of-function truncated proteins of pathological significance, are formed. Approximately 50% of all inherited retinal disorders have been associated with PTCs, highlighting ...
Known for
Pharmacological Gene | Suppression Ptcs | Functional Protein
KOL-Index: 53 In 2013, as part of our genetic investigation of patients with inherited retinal disease, we utilized multigene panel testing of 105 genes known to cause retinal disease in our patient cohorts. This test was performed in a UK National Health Service (NHS) accredited laboratory. The results of all multigene panel tests requested between 1.4.13 and 31.8.14 were retrospectively reviewed. All ...
Known for
Genes Retinal | 115 Multigene | Definitive Conclusions | Reduced Cost
KOL-Index: 50 PURPOSE: To investigate genetics, electrophysiology, and clinical course of KCNV2-associated retinopathy in a cohort of children and adults. STUDY DESIGN: This was a multicenter international clinical cohort study. METHODS: Review of clinical notes and molecular genetic testing. Full-field electroretinography (ERG) recordings, incorporating the international standards, were reviewed and ...
Known for
Retinopathy Genetics | Range Decreased | Ergs | Electrophysiology Kcnv2
KOL-Index: 50 Pathogenic variants in the gene HGSNAT (heparan-α-glucosaminide N-acetyltransferase) have been reported to underlie two distinct recessive conditions, depending on the specific genotype, mucopolysaccharidosis type IIIC (MPSIIIC)-a severe childhood-onset lysosomal storage disorder, and adult-onset nonsyndromic retinitis pigmentosa (RP). Here we describe the largest cohort to-date of ...
Known for
Sequence Hgsnat | Pathogenic Gene | Families Symptoms
KOL-Index: 50 PURPOSE: To examine the genetic and clinical features in children and adults with X-linked retinoschisis (XLRS). DESIGN: Single-center consecutive, retrospective, observational study. PARTICIPANTS: Adults and children with molecularly confirmed XLRS followed up between 1999 and 2020. METHODS: Analysis of genetic, clinical, and retinal imaging findings, including OCT and fundus ...
Known for
Retinoschisis

Inherited Eye Diseases, UCL Institute of Ophthalmology, London, and Moorfields Eye Hospital NHS Trust, London, United Kingdom

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