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Article

Exome sequencing reveals ADAM9 mutations in a child with cone-rod dystrophy.

Acta ophthalmologica - 1 Aug 2015

Hull Sarah, Arno Gavin, Plagnol Vincent, Robson Anthony G, Webster Andrew R, Moore Anthony T

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25546566
DOI: 10.1111/aos.12592

Genes

ADAM9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exome sequencing reveals ADAM9 mutations in a child with cone-rod dystrophy.PMID 25546566Read ↗

Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract.Semantic proximity Read ↗

Proband-Only Clinical Exome Sequencing for Neurodevelopmental DisabilitiesSemantic proximity Read ↗

Novel compound heterozygous mutations resulting in cone dystrophy with supernormal rod response.Semantic proximity Read ↗

Expansion of ocular phenotypic features associated with mutations in ADAMTS18.Semantic proximity Read ↗

Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.Semantic proximity Read ↗

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.Semantic proximity Read ↗

Exome Analysis of a New Disease-causing Mutation in a Preterm Neonate with NP-C Disease.Semantic proximity Read ↗

NMNAT1 variants cause cone and cone-rod dystrophySemantic proximity Read ↗

A very early diagnosis of Alstrӧm syndrome by next generation sequencing.Semantic proximity Read ↗

Exome sequencing for disease gene discovery in Jeune’s Asphyxiating Thoracic DystrophySemantic proximity Read ↗

A novel variant of ARPC4-related neurodevelopmental disorder.Semantic proximity Read ↗

An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9.Semantic proximity Read ↗

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