Gavin Arno

Moorfields Eye Hospital NHS Foundation Trust — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

45h-index7.5kcitations260works4.12yr avg
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Research Topics

Retinal Development and Disorders(135), Retinal Diseases and Treatments(83), Genomics and Rare Diseases(29), RNA regulation and disease(25), Connective tissue disorders research(21)

Publications252 total

RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa
European Journal of Human Genetics·2025· 1 citedOpen Access
Expansion of genotype/phenotype correlation in an individual with compound heterozygous variants in CYP51A1 and congenital cataract
Molecular Genetics and Metabolism·2025· 1 cited
Refining the genetic landscape of anophthalmia and microphthalmia: a comprehensive framework with deep learning and updated gene panels
2025Open Access
Variants in NR6A1 cause a novel oculo vertebral renal syndrome
Nature Communications·2025· 7 citedOpen Access
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy
Genetics in Medicine·2025Open Access
A Phenotypic Study of <i>CRB1</i> Retinopathy Secondary to the Variant p.(Pro836Thr) Prevalent in Those of Black African Ancestry
Investigative Ophthalmology & Visual Science·2025Open Access
Biallelic <i>NSUN3</i> Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder
Investigative Ophthalmology & Visual Science·2025· 3 citedOpen Access
<i>DYRK1A</i> syndrome presenting with a familial exudative vitreoretinopathy (FEVR)-like retinovascular phenotype
Ophthalmic Genetics·2025· 1 citedOpen Access
Targeted long-read RNA sequencing reveals the complexity of <i>CLN3</i> transcription and the consequences of the most common 1-kb deletion in patients with juvenile CLN3 disease
2025Open Access
Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies
Human Genetics and Genomics Advances·2025· 2 citedOpen Access
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
The American Journal of Human Genetics·2025· 2 citedOpen Access
Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy
Genetics in Medicine·2025· 3 citedOpen Access
Rare disease gene association discovery in the 100,000 GenomesProject
Nature·2025· 13 citedOpen Access
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
2025· 13 citedOpen Access
Functional assessment of IDUA variants of uncertain significance identified by newborn screening
npj Genomic Medicine·2024· 3 citedOpen Access
Bifocal retinal degeneration observed on ultra-widefield autofluorescence in some cases of CRX-associated retinopathy
Eye·2024· 2 citedOpen Access
Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome
2024Open Access
Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome
2024· 2 citedOpen Access
#ECR-Poster-02 Bifocal retinal degeneration observed on ultra-widefield autofluorescence in some cases of CRX-associated retinopathy
2024Open Access
#ECR-Poster-01 Light-adapted electroretinograms obtained with a portable device in patients with <i>ABCA4</i>-retinopathy: associations with genotype
2024Open Access
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Frequent Co-authors

Andrew R. Webster(31), Michel Michaelides(21), Anthony T. Moore(18), Sarah Hull(14), Graeme C. Black(13), Keren Carss(13), Anthony G. Robson(12), Vincent Plagnol(12), Nikolas Pontikos(10), Graham E. Holder(10), Alison J. Hardcastle(9), Chris F. Inglehearn(9), Panagiotis I. Sergouniotis(8), Martin McKibbin(8), F. Lucy Raymond(7), Alessia Fiorentino(7), Michael E. Cheetham(7), James A. Poulter(7), Marta Bleda(6), Frans P.M. Cremers(6)