Author

Saoud Tahsin Swafiri

Instituto de Salud Carlos IIIORCID 0000-0003-3684-9076Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Research Focus:differential expression· 2 Organism:human· 2 Assay:DNA methylation· 1 Approach:experimental assay· 1 Organism:mouse· 1 Assay:proteomics· 1

Frequent Co-Authors

Carmen AyusoiD· 3 shared Fiona Blanco‐KellyiD· 2 shared Rosario López‐RodrígueziD· 2 shared Abigail R. MoyeiD· 1 shared Aitor López-González· 1 shared Alberto Fernández‐JaéniD· 1 shared Aline AntonioiD· 1 shared Almudena Ávila‐Fernández· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Carmen AyusoORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineGenome MedicinePeer-reviewedOct 31, 2026

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Zoéline Mars, Andrea Zanetti, Karolina Kamińska…·Isabelle Perrault

The paper identifies biallelic DDX41 variants in LCA/EOSRD patients and shows they disrupt retinal homeostasis through loss-of-function mechanisms in mouse models.

1 citation

mouseDNA methylation

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Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedNov 29, 2022

Clinical description, molecular delineation, and genotype-phenotype correlation in KBG syndrome: 67 new patients and review of the literature.

Elena Martínez‐Cayuelas, Fiona Blanco‐Kelly, Fermina López‐Grondona…·Berta Almoguera

This paper describes the clinical and molecular features of 67 new KBG syndrome patients, identifies genotype-phenotype correlations, and proposes updated diagnostic criteria.

24 citations

humanstatistical model

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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

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