Research Explorer

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Researcher

Alfredo Dueñas Rey

Awards & Distinctions

16 Results

2024

Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform

Marta del Pozo ValeroBasamat Almoallem MohammedAlfredo Dueñas ReyQuinten MahieuMattias Van HeetveldeLaila JeddawiMiriam BauwensElfride De Baere

A1 Journal Article in CLINICAL GENETICS

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

Alfredo Dueñas ReyMarta del Pozo ValeroManon BouckaertKatherine A. WoodFilip Van Den BroeckMalena Daich VarelaHuw B. ThomasMattias Van HeetveldeMarieke De BruyneStijn Van de Sompele et al.

A1 Journal Article in GENOME MEDICINE

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

Victor Lopez SorianoAlfredo Dueñas ReyRajarshi MukherjeeFrauke CoppietersMiriam BauwensAndy WillaertElfride De Baere

A1 Journal Article in NATURE COMMUNICATIONS

2023

A systematic approach to characterize the contribution of 5'UTR variation to inherited retinal disease

Alfredo Dueñas ReyManon BouckaertMarta del Pozo ValeroMarieke De BruyneMattias Van HeetveldeJamie EllingfordGavin ArnoAndrew WebsterCarmen AyusoCarlo Rivolta et al.

U Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

Nafisa NuzhatKristof Van SchilSandra LiakopoulosMiriam BauwensAlfredo Dueñas ReyStephan KaesebergMelanie JaegerJason R. WillerJennifer WinterHanh M. Truong et al.

A1 Journal Article in JOURNAL OF CLINICAL INVESTIGATION

Comparative 3D genome analysis between neural retina and RPE reveals di!erential cis-regulatory interactions at retinal disease loci

Eva D'haeneVictor Lopez SorianoPedro Manuel Martinez-GarciaSoraya KalayanamontriAlfredo Dueñas ReyAna Sousa-OrtegaSilvia NaranjoStijn Van de SompeleLies VantommeQuinten Mahieu et al.

Comparative 3D genome analysis between neural retina and RPE reveals differential cis-regulatory interactions at retinal disease loci

Eva D'haenePedro Manuel Martinez-GarciaVictor Lopez SorianoSoraya KalayanamontriAlfredo Dueñas ReyLies VantommeSarah VergultAna Bastos NetoJosé Luis Gomez-SkarmetaJuan Ramon Martinez-Morales et al.

Comparative 3D genome analysis between neural retina and RPE reveals differential cis-regulatory interactions at retinal disease loci

Eva D'haeneVictor Lopez SorianoPedro Manuel Martínez-GarcíaSoraya KalayanamontriAlfredo Dueñas ReyAna Sousa-OrtegaSilvia NaranjoStijn Van de SompeleLies VantommeQuinten Mahieu et al.

2022

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss

Giulia AscariNanna D. RendtorffMarieke De BruyneJulie De ZaeytijdMichel Van LintMattias Van HeetveldeGavin ArnoJulie JacobDavid CreytensJo Van Dorpe et al.

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

Stijn Van de SompeleKent W. SmallMünevver Burcu CicekdalVictor Lopez SorianoEva D'haeneFadi S. ShayaSteven AgemyThijs Van der SnicktAlfredo Dueñas ReyToon Rosseel et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Stijn Van de SompeleKent W. SmallMünevver Burcu CicekdalVictor Lopez SorianoEva D'haeneFadi S. ShayaSteven AgemyThijs Van der SnicktAlfredo Dueñas ReyToon Rosseel et al.

2021

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss

Giulia AscariNanna D. RendtorffMarieke De BruyneJulie De ZaeytijdMichel Van LintMiriam BauwensMattias Van HeetveldeGavin ArnoJulie JacobDavid Creytens et al.

A1 Journal Article in FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss

Giulia AscariNanna RendtorffMarieke De BruyneJulie De ZaeytijdMichel Van LintMattias Van HeetveldeAlfredo Dueñas ReyGavin ArnoJulie JacobDavid Creytens et al.

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone‐rod dystrophy and hearing loss

Giulia AscariNanna D RendtorffMarieke De BruyneJulie De ZaeytijdMichel Van LintMattias Van HeetveldeAlfredo Dueñas ReyGavin ArnoJulie JacobDavid Creytens et al.

The MHC class II transactivator modulates seeded alpha-synuclein pathology and dopaminergic neurodegeneration in an in vivo rat model of Parkinson's disease

I Jimenez-FerrerF BäckströmAlfredo Dueñas ReyM JewettA Boza-SerranoKC LukT DeierborgM Swanberg

A1 Journal Article in BRAIN BEHAVIOR AND IMMUNITY

2020

Loss of function of RIMS2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement

Sabrina MechaussierBasamat Almoallem Mohammed HChristina ZeitzKristof Van SchilLaila JeddawiJo Van DorpeAlfredo Dueñas ReyChristel CondroyerOlivier PelleMichel Polak et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS