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Researcher
Alfredo Dueñas Rey
Profile
Projects
Publications
Activities
Awards & Distinctions
8
Results
2022
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss
Giulia Ascari
Nanna D. Rendtorff
Marieke De Bruyne
Julie De Zaeytijd
Michel Van Lint
Mattias Van Heetvelde
Gavin Arno
Julie Jacob
David Creytens
Jo Van Dorpe
et al.
C3
Conference
2022
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
Stijn Van de Sompele
Kent W. Small
Münevver Burcu Cicekdal
Victor Lopez Soriano
Eva D'haene
Fadi S. Shaya
Steven Agemy
Thijs Van der Snickt
Alfredo Dueñas Rey
Toon Rosseel
et al.
A1
Journal Article
in
AMERICAN JOURNAL OF HUMAN GENETICS
2022
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 Sompele
Kent W. Small
Münevver Burcu Cicekdal
Victor Lopez Soriano
Eva D'haene
Fadi S. Shaya
Steven Agemy
Thijs Van der Snickt
Alfredo Dueñas Rey
Toon Rosseel
et al.
Preprint
2022
2021
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss
Giulia Ascari
Nanna Rendtorff
Marieke De Bruyne
Julie De Zaeytijd
Michel Van Lint
Mattias Van Heetvelde
Alfredo Dueñas Rey
Gavin Arno
Julie Jacob
David Creytens
et al.
C3
Conference
2021
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss
Giulia Ascari
Nanna D. Rendtorff
Marieke De Bruyne
Julie De Zaeytijd
Michel Van Lint
Miriam Bauwens
Mattias Van Heetvelde
Gavin Arno
Julie Jacob
David Creytens
et al.
A1
Journal Article
in
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
2021
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone‐rod dystrophy and hearing loss
Giulia Ascari
Nanna D Rendtorff
Marieke De Bruyne
Julie De Zaeytijd
Michel Van Lint
Mattias Van Heetvelde
Alfredo Dueñas Rey
Gavin Arno
Julie Jacob
David Creytens
et al.
C3
Conference
2021
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-Ferrer
F Bäckström
Alfredo Dueñas Rey
M Jewett
A Boza-Serrano
KC Luk
T Deierborg
M Swanberg
A1
Journal Article
in
BRAIN BEHAVIOR AND IMMUNITY
2021
2020
Loss of function of RIMS2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement
Sabrina Mechaussier
Basamat Almoallem Mohammed H
Christina Zeitz
Kristof Van Schil
Laila Jeddawi
Jo Van Dorpe
Alfredo Dueñas Rey
Christel Condroyer
Olivier Pelle
Michel Polak
et al.
A1
Journal Article
in
AMERICAN JOURNAL OF HUMAN GENETICS
2020