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Researcher
Marta del Pozo Valero
Profile
Projects
Publications
Activities
Awards & Distinctions
6
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 Valero
Basamat Almoallem Mohammed
Alfredo Dueñas Rey
Quinten Mahieu
Mattias Van Heetvelde
Laila Jeddawi
Miriam Bauwens
Elfride De Baere
A1
Journal Article
in
CLINICAL GENETICS
2024
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease
Alfredo Dueñas Rey
Marta del Pozo Valero
Manon Bouckaert
Katherine A. Wood
Filip Van Den Broeck
Malena Daich Varela
Huw B. Thomas
Mattias Van Heetvelde
Marieke De Bruyne
Stijn Van de Sompele
et al.
A1
Journal Article
in
GENOME MEDICINE
2024
2023
A systematic approach to characterize the contribution of 5'UTR variation to inherited retinal disease
Alfredo Dueñas Rey
Manon Bouckaert
Marta del Pozo Valero
Marieke De Bruyne
Mattias Van Heetvelde
Jamie Ellingford
Gavin Arno
Andrew Webster
Carmen Ayuso
Carlo Rivolta
et al.
C3
Conference
2023
Unraveling the genetic basis of early-onset inherited retinal disease in a Saudi Arabian cohort reveals a novel RIMS2-related family
Basamat Almoallem Mohammed H
Marta del Pozo Valero
Laila Jeddawi
Kristof Van Schil
Toon Rosseel
Sarah De Jaegere
Bart Leroy
Khalid Emara
Frauke Coppieters
Miriam Bauwens
et al.
C3
Conference
2023
Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases
Marta del Pozo Valero
Miriam Bauwens
Marieke De Bruyne
Filip Van Den Broeck
Stephanie Dulst
Quinten Quinten
Audrey Meunier
Thomy de Ravel
Joke Ruys
Mattias Van Heetvelde
et al.
C3
Conference
2023
Whole genome sequencing sheds light on the dark matter of the genome in patients with inherited retinal diseases
Miriam Bauwens
Marta del Pozo Valero
Marieke De Bruyne
Filip Van Den Broeck
Stephanie Dulst
Quinten Mahieu
Audrey Meunier
Thomy de Ravel de l'Argentière
Joke Ruys
Mattias Van Heetvelde
et al.
C3
Conference
2023