Author

Inmaculada Martín-Mérida

Centre for Biomedical Network Research on Rare Diseases

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Almudena Ávila‐Fernández· 2 shared Carmen AyusoiD· 2 shared Irene Perea‐RomeroiD· 2 shared María José Trujillo-Tiebas· 2 shared Marta CortóniD· 2 shared Marta Del Pozo‐ValeroiD· 2 shared Rosa Riveiro-ÁlvareziD· 2 shared Alejandra DamiániD· 1 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Almudena Ávila‐Fernández

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2 papers

Recent·Most cited

Genetic & Genomic MedicineInternational Journal of Molecular SciencesPeer-reviewedJul 29, 2022

Aggregated genomic data as cohort-specific allelic frequencies can boost variants and genes prioritization in non-solved cases of inherited retinal dystrophies

Ionut-Florin Iancu, Irene Perea‐Romero, Gonzalo Núñez‐Moreno…·Pablo Mínguez

The paper builds a cohort-specific allelic frequency database to prioritize variants and genes in non-solved inherited retinal dystrophies, identifying 8 potential causative variants and 18 genes for further study.

10 citations

humanwhole-exome sequencing

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Genetic & Genomic MedicineExperimental Eye ResearchPeer-reviewedSep 4, 2021

RPE65-related retinal dystrophy: mutational and phenotypic spectrum in 45 affected patients.

Rosario López‐Rodríguez, Esther Lantero, Fiona Blanco‐Kelly…·Carmen Ayuso

The paper analyzes RPE65 variants in 45 patients with retinal dystrophy, finding associations between variant types and age at onset.

33 citations

humanstatistical model

𝕏 PostBluesky