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1

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 1..:

Fernández-Caballero, Lidia ; Martín-Merida, Inmaculada ; Blanco-Kelly, Fiona...
International Journal of Molecular Sciences. 25 (2024) 5 - p. 2913 , 2024

Link: https://doi.org/10.3390/..

2

KCNV2-associated retinopathy: genotype–phenotype correlatio..:

de Guimaraes, Thales A C ; Georgiou, Michalis ; Robson, Anthony G...
British Journal of Ophthalmology. 108 (2023) 8 - p. 1137-1144 , 2023

Link: https://doi.org/10.1136/..

3

ABCA4 c.6480-35A>G, a novel branchpoint variant associated ..:

Rodríguez-Hidalgo, María ; de Bruijn, Suzanne E. ; Corradi, Zelia...
Frontiers in Genetics. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

4

Comprehensive Genotyping and Phenotyping Analysis of GUCY2D..:

Rodilla, Cristina ; Martín-Merida, Inmaculada ; Blanco-Kelly, Fiona...
American Journal of Ophthalmology. 254 (2023) - p. 87-103 , 2023

Link: https://doi.org/10.1016/..

5

#2684 DIAGNOSTIC YIELD OF A TARGETED GENE PANEL FOR MONOGEN..:

Giovanella, Silvia ; Poyatos Andújar, Antonio M ; Avila-Fernandez, Almudena...
Nephrology Dialysis Transplantation. 38 (2023) Supplement_1 - p. , 2023

Link: https://doi.org/10.1093/..

6

A crowdsourcing database for the copy-number variation of t..:

López-López, Daniel ; Roldán, Gema ; Fernández-Rueda, Jose L....
Human Genomics. 17 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

7

Generalized dystonia without Parkinsonism in an LRRK2 carri..:

Díaz-Feliz, Lola ; Feliz-Feliz, Cici ; Del Val, Javier...
Clinical Parkinsonism & Related Disorders. 7 (2022) - p. 100157 , 2022

Link: https://doi.org/10.1016/..

8

An evaluation of pipelines for DNA variant detection can gu..:

Romero, Raquel ; de la Fuente, Lorena ; Del Pozo-Valero, Marta...
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

9

Application of multicolour reflectance imaging for the char..:

Lorenzana-Blanco, Natalia ; Jimenez-Rolando, Belen ; Garcia-Sandoval, Blanca...
European Journal of Ophthalmology. 33 (2022) 2 - p. 735-744 , 2022

Link: https://doi.org/10.1177/..

10

Allelic overload and its clinical modifier effect in Bardet..:

Perea-Romero, Irene ; Solarat, Carlos ; Blanco-Kelly, Fiona...
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

11

Impact of Next Generation Sequencing in Unraveling the Gene..:

Del Pozo-Valero, Marta ; Riveiro-Alvarez, Rosa ; Martin-Merida, Inmaculada...
Investigative Opthalmology & Visual Science. 63 (2022) 2 - p. 11 , 2022

Link: https://doi.org/10.1167/..

12

Aggregated Genomic Data as Cohort-Specific Allelic Frequenc..:

Iancu, Ionut-Florin ; Perea-Romero, Irene ; Núñez-Moreno, Gonzalo...
International Journal of Molecular Sciences. 23 (2022) 15 - p. 8431 , 2022

Link: https://doi.org/10.3390/..

13

KCNV2-Associated Retinopathy: Detailed Retinal Phenotype an..:

Georgiou, Michalis ; Fujinami, Kaoru ; Vincent, Ajoy...
American Journal of Ophthalmology. 230 (2021) - p. 1-11 , 2021

Link: https://doi.org/10.1016/..

14

RPE65-related retinal dystrophy: Mutational and phenotypic ..:

Lopez-Rodriguez, Rosario ; Lantero, Esther ; Blanco-Kelly, Fiona...
Experimental Eye Research. 212 (2021) - p. 108761 , 2021

Link: https://doi.org/10.1016/..

15

Comparison of the diagnostic yield of aCGH and genome-wide ..:

Martinez-Granero, Francisco ; Blanco-Kelly, Fiona ; Sanchez-Jimeno, Carolina...
npj Genomic Medicine. 6 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

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