Research Explorer

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Researcher

Alfredo Dueñas Rey

8 Results

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 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 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 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