Author

Aïda Masmoudi

Faculté de médecine de Tunis

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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Genetics· 1

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

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 Sihem DarouichiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

David Gordon

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1 paper

Recent·Most cited

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

Sathiyanarayanan Manivannan, Sihem Darouich, Aïda Masmoudi, David Gordon, Gloria A. Zender, Zhe Han, Sara M. Fitzgerald‐Butt, Peter White, Kim L. McBride, Maher Kharrat, 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.

PLoS Genetics · May 26, 2020Peer-reviewedGenetics