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Article

Whole Genome Sequencing Identifies a Partial Deletion of RTN4IP1 in a Patient With Isolated Optic Atrophy.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society - 1 Dec 2023

Jurkute Neringa, Arno Gavin, Webster Andrew R, Yu-Wai-Man Patrick

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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PMID: 35439212
DOI: 10.1097/WNO.0000000000001589

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole Genome Sequencing Identifies a Partial Deletion of RTN4IP1 in a Patient With Isolated Optic Atrophy.PMID 35439212Read ↗

A dataset of patients with isolated and syndromic optic neuropathies linked to RTN4IP1 genetic variants.Semantic proximity Read ↗

Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.Semantic proximity Read ↗

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.Semantic proximity Read ↗

Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant.Semantic proximity Read ↗

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.Semantic proximity Read ↗

Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype.Semantic proximity Read ↗

Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal diseaseSemantic proximity Read ↗

Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.Semantic proximity Read ↗

A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.Semantic proximity Read ↗

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