Marta del Pozo Valero

Journal Article
A1
open access

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 (UGent) , Basamat Almoallem Mohammed, Alfredo Dueñas Rey, Quinten Mahieu (UGent) , Mattias Van Heetvelde (UGent) , Laila Jeddawi, Miriam Bauwens (UGent) and Elfride De Baere (UGent)

(2024) CLINICAL GENETICS. 106(2). p.127-139

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Journal Article
A1
open access

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

Alfredo Dueñas Rey, Marta del Pozo Valero (UGent) , Manon Bouckaert (UGent) , Katherine A. Wood, Filip Van Den Broeck (UGent) , Malena Daich Varela, Huw B. Thomas, Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , et al.

(2024) GENOME MEDICINE. 16(1).

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

Alfredo Dueñas Rey, Manon Bouckaert (UGent) , Marta del Pozo Valero (UGent) , Marieke De Bruyne (UGent) , Mattias Van Heetvelde (UGent) , Jamie Ellingford, Gavin Arno, Andrew Webster, Carmen Ayuso, Carlo Rivolta, et al.

(2023) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. In Investigative Ophthalmology & Visual Science 64(8).

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Unraveling the genetic basis of early-onset inherited retinal disease in a Saudi Arabian cohort reveals a novel RIMS2-related family

Basamat Almoallem Mohammed (UGent) , Marta del Pozo Valero (UGent) , Laila Jeddawi, Kristof Van Schil, Toon Rosseel (UGent) , Sarah De Jaegere (UGent) , Bart Leroy (UGent) , Khalid Emara, Frauke Coppieters (UGent) , Miriam Bauwens (UGent) , et al.

(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.114-114

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Conference Paper
C3
open access

Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases

Marta del Pozo Valero (UGent) , Miriam Bauwens (UGent) , Marieke De Bruyne (UGent) , Filip Van Den Broeck (UGent) , Stephanie Dulst, Quinten Quinten, Audrey Meunier, Thomy de Ravel, Joke Ruys, Mattias Van Heetvelde (UGent) , et al.

(2023) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. In Investigative Ophthalmology & Visual Science 64(8).

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Conference Paper
C3
open access

Whole genome sequencing sheds light on the dark matter of the genome in patients with inherited retinal diseases

Miriam Bauwens (UGent) , Marta del Pozo Valero (UGent) , Marieke De Bruyne (UGent) , Filip Van Den Broeck (UGent) , Stephanie Dulst, Quinten Mahieu (UGent) , Audrey Meunier, Thomy de Ravel de l'Argentière, Joke Ruys, Mattias Van Heetvelde (UGent) , et al.

(2023) Belgian Society for Human Genetics (BeSHG) Annual Meeting 2023 : To DNA and beyond, Abstracts.

Academic Bibliography

Marta del Pozo Valero

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

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

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

Unraveling the genetic basis of early-onset inherited retinal disease in a Saudi Arabian cohort reveals a novel RIMS2-related family

Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases

Whole genome sequencing sheds light on the dark matter of the genome in patients with inherited retinal diseases

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