Suchergebnisse - "Del Pozo-Valero, Marta"

PubPharm (31)

1

Prioritization of new candidate genes for rare genetic diseases by a disease-aware evaluation of heterogeneous molecular networks

enthalten in: bioRxiv.org | 2024

von de la Fuente, L. | Del Pozo-Valero, M. | Perea-Romero, I. | +5

2

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

enthalten in: Clinical genetics | 2024

von Del Pozo-Valero, M. | Almoallem, B. | Dueñas Rey, A. | +5

3

PRPH2-Related Retinal Dystrophies : Mutational Spectrum in 103 Families from a Spanish Cohort

enthalten in: International journal of molecular sciences | 2024

von Fernández-Caballero, L. | Martín-Merida, I. | Blanco-Kelly, F. | +21

4

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

enthalten in: Genome medicine | 2024

von Dueñas Rey, A. | Del Pozo Valero, M. | Bouckaert, M. | +22

5

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

enthalten in: Genome medicine | 2024

von Dueñas Rey, A. | del Pozo Valero, M. | Bouckaert, M. | +21

6

Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies

enthalten in: American journal of ophthalmology | 2023

von Rodilla, C. | Martín-Merida, I. | Blanco-Kelly, F. | +19

7

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

enthalten in: bioRxiv.org | 2023

von Rey, A. | del Pozo Valero, M. | Bouckaert, M. | +18

8

Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years

enthalten in: GeroScience | 2023

von Del Pozo-Valero, M. | Corton, M. | López-Rodríguez, R. | +70

9

ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease

enthalten in: Frontiers in genetics | 2023

von Rodríguez-Hidalgo, M. | de Bruijn, S. | Corradi, Z. | +13

10

Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks

enthalten in: International journal of molecular sciences | 2023

von de la Fuente, L. | Del Pozo-Valero, M. | Perea-Romero, I. | +5