Author

Andrés Nascimento

Hospital Sant Joan de Déu BarcelonaORCID 0000-0003-4952-5732Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Developmental Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 2 Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:cell-cell communication· 1 Organism:Drosophila· 1 Approach:experimental assay· 1

Frequent Co-Authors

Daniel Natera‐de BenitoiD· 3 shared Adam JacksoniD· 1 shared Aileen Reghan FoleyiD· 1 shared Alessandra RenieriiD· 1 shared Alexandra MonceauiD· 1 shared Alfons MacayaiD· 1 shared Ana TöpfiD· 1 shared Anna Katharina Sommer· 1 shared

Activity by Year

2023-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Daniel Natera‐de BenitoORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedMay 31, 2024

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

German M. Demidov, Steven Laurie, Annalaura Torella…·Stephan Ossowski

This study identifies structural variants in 6224 rare disease exomes, finding 0.4% diagnostic yield with 8 previously undetected pathogenic SVs.

22 citationstop 3%

humanwhole-exome sequencing

𝕏 PostBluesky

Developmental BiologybioRxivPreprintMay 6, 2024

Effects of HMGCR deficiency on skeletal muscle development

Mekala Gunasekaran, Hannah R. Littel, Natalya M. Wells…·Peter B. Kang

This study investigates the effects of HMGCR deficiency on skeletal muscle development through genetic knockdown in mice and Drosophila, revealing shared mechanisms in three HMGCR-related muscle diseases.

2 citations

mouseDrosophila

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BioinformaticsbioRxivPreprintMar 1, 2023

Decoding Duchenne muscular dystrophy transcriptome to single nuclei level reveals clinical-genetic correlations

Xavier Suárez‐Calvet, Esther Fernández‐Simón, Daniel Natera‐de Benito…·Jordi Díaz‐Manera

This study uses single nuclei RNA sequencing to analyze DMD muscle samples and identifies clinical-genetic correlations by comparing gene expression profiles across cell populations.

DOI 10.1101/2023.03.01.530728

𝕏 PostBluesky