Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort Article Swipe
Siying Lin
,
Sandra Vermeirsch
,
Nikolas Pontikos
,
María Pilar Martín-Gutiérrez
,
Malena Daich Varela
,
Samantha Malka
,
Elena Schiff
,
Hannah Knight
,
Genevieve Wright
,
Neringa Jurkutė
,
Mark Simcoe
,
Patrick Yu‐Wai‐Man
,
Mariya Moosajee
,
Michel Michaelides
,
Omar A. Mahroo
,
Andrew R. Webster
,
Gavin Arno
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1016/j.oret.2024.01.012
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1016/j.oret.2024.01.012
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
Related Topics
Concepts
ABCA4
Genetics
Exome sequencing
Molecular diagnostics
Genetic testing
Medicine
Cohort
Medical genetics
Exome
Disease
Biology
Bioinformatics
Gene
Pathology
Mutation
Phenotype
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1016/j.oret.2024.01.012
- OA Status
- hybrid
- Cited By
- 31
- References
- 39
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4390889292
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4390889292Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1016/j.oret.2024.01.012Digital Object Identifier
- Title
-
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom CohortWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2024Year of publication
- Publication date
-
2024-01-21Full publication date if available
- Authors
-
Siying Lin, Sandra Vermeirsch, Nikolas Pontikos, María Pilar Martín-Gutiérrez, Malena Daich Varela, Samantha Malka, Elena Schiff, Hannah Knight, Genevieve Wright, Neringa Jurkutė, Mark Simcoe, Patrick Yu‐Wai‐Man, Mariya Moosajee, Michel Michaelides, Omar A. Mahroo, Andrew R. Webster, Gavin ArnoList of authors in order
- Landing page
-
https://doi.org/10.1016/j.oret.2024.01.012Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
- OA URL
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https://doi.org/10.1016/j.oret.2024.01.012Direct OA link when available
- Concepts
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ABCA4, Genetics, Exome sequencing, Molecular diagnostics, Genetic testing, Medicine, Cohort, Medical genetics, Exome, Disease, Biology, Bioinformatics, Gene, Pathology, Mutation, PhenotypeTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
31Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 20, 2024: 11Per-year citation counts (last 5 years)
- References (count)
-
39Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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