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Publications by Gavin Arno
Whole-Exome Sequencing in the Investigation of Retinal Dystrophy
The Lancet
Medicine
Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
American Journal of Human Genetics
Genetics
ABCA4-associated Disease as a Model for Missing Heritability in Autosomal Recessive Disorders: Novel Noncoding Splice, Cis-Regulatory, Structural, and Recurrent Hypomorphic Variants
Genetics in Medicine
Medicine
Genetics
Mutation in the Intracellular Chloride Channel CLCC1 Associated With Autosomal Recessive Retinitis Pigmentosa
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
Clinical and Molecular Characterization of Enhanced S-Cone Syndrome in Children
JAMA Ophthalmology
Ophthalmology
Unique Non-Coding Variants Upstream of PRDM13 Are Associated With a Spectrum of Developmental Retinal Dystrophies Including Progressive Bifocal Chorioretinal Atrophy
Human Mutation
Genetics
Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Primary Congenital Glaucoma Including Next-Generation Sequencing-Based Approaches: Clinical Utility Gene Card
European Journal of Human Genetics
Genetics
