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0000-0002-1835-2405
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Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease
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A systematic approach to characterize the contribution of 5'UTR variation to inherited retinal disease
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Identification and characterization of a novel retinaspecific lncRNA upstream ABCA4 with a potential role in ABCA4-associated inherited retinal disease
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.78-79