Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom
2020 · Ophthalmology · 244 citations
https://doi.org/10.1016/j.ophtha.2020.04.008
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Nikolas Pontikos
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Nikolas Pontikos is an academic researcher from National Health Service. The author has contributed to research in topics: Retinal Diseases and Treatments & Retinal Imaging and Analysis & Retinal Development and Disorders. The author has an h-index of 43, co-authored 215 publications.
ORCID: 0000-0003-1782-4711Papers by this author
worksStructural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
2020 · The American Journal of Human Genetics · 118 citations
https://doi.org/10.1016/j.ajhg.2020.09.002
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
2020 · Nature Communications · 115 citations
https://doi.org/10.1038/s41467-020-14829-5
The GA4GH Phenopacket schema defines a computable representation of clinical data
2022 · Nature Biotechnology · 108 citations
https://doi.org/10.1038/s41587-022-01357-4
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes
2024 · Progress in Retinal and Eye Research · 95 citations
https://doi.org/10.1016/j.preteyeres.2024.101244
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population
2018 · PLoS Genetics · 94 citations
https://doi.org/10.1371/journal.pgen.1007329
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