Alfredo Dueñas Rey

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement

Sabrina Méchaussier, Basamat Almoallem, Christina Zeitz et al. · The American Journal of Human Genetics · 2020 · 36 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Stijn Van de Sompele, Kent W. Small, Munevver Burcu Cicekdal et al. · The American Journal of Human Genetics · 2022 · 36 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

Giulia Ascari, Nanna Dahl Rendtorff, Marieke De Bruyne et al. · Frontiers in Cell and Developmental Biology · 2021 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

Víctor López-Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee et al. · Nature Communications · 2024 · 16 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease

Alfredo Dueñas Rey, Marta Del Pozo‐Valero, Manon Bouckaert et al. · Genome Medicine · 2024 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16