Author

Steven McGinn

Commissariat à l'Énergie Atomique et aux Énergies AlternativesORCID 0000-0001-9418-6333Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Anne BolandiD· 2 shared Jean‐François DeleuzeiD· 2 shared Alain van MiliD· 1 shared Angélique Curjol· 1 shared Ariane Kröll‐HermiiD· 1 shared Barbara A. Zieba· 1 shared Benjamin MederiD· 1 shared Brendan J. KeatingiD· 1 shared

Activity by Year

2020-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenomics

Anne BolandORCID

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2 papers

Recent·Most cited

GenomicsEuropean Heart JournalPeer-reviewedJan 14, 2021

Genome wide association analysis in dilated cardiomyopathy reveals two new key players in systolic heart failure on chromosome 3p25.1 and 22q11.23

Sophie Garnier, Magdaléna Harakaľová, Stefan Weiß…·Philippe Charron

This study performs a large GWAS on dilated cardiomyopathy, identifying two new loci and confirming two existing ones, with potential therapeutic implications.

94 citationstop 1%

humanGWAS summary statistics

𝕏 PostBluesky

GeneticsEMBO Molecular MedicinePeer-reviewedJun 5, 2020

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel…·Hélène Dollfus

The paper identifies a PSMC3 variant causing a neurosensory syndrome with deafness and cataracts due to proteotoxic stress and impaired proteasome function.

65 citations

humanzebrafish

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