Author

Sihem Darouich

Faculté de médecine de TunisORCID 0000-0003-3930-0011Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Aïda Masmoudi· 1 shared David Gordon· 1 shared Gloria A. Zender· 1 shared Kim L. McBrideiD· 1 shared Maher KharratiD· 1 shared Peter WhiteiD· 1 shared Sara M. Fitzgerald‐ButtiD· 1 shared Sathiyanarayanan ManivannaniD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Aïda Masmoudi

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1 paper

Recent·Most cited

GeneticsPLoS GeneticsPeer-reviewedMay 26, 2020

Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy

Sathiyanarayanan Manivannan, Sihem Darouich, Aïda Masmoudi…·Vidu Garg

The paper identifies a novel recessive frameshift variant in MYL2 causing severe infantile-onset HCM and shows molecular differences between recessive and dominant MYL2 variants.

26 citations

humanwhole-exome sequencing

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