Author

Amany Ellithy

Aswan UniversityORCID 0009-0002-2016-5753Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Ahmed Mohamed ElGuindyiD· 1 shared Ahmed MoustafaiD· 1 shared Alaa Afify· 1 shared Aya A. GalaliD· 1 shared Ayman Maher IbrahimiD· 1 shared Heba Sh. KassemiD· 1 shared James S. WareiD· 1 shared Magdi Habib YacoubiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ahmed Mohamed ElGuindyORCID

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1 paper

Recent·Most cited

Analysis of HCM in an understudied population reveals a new mechanism of pathogenicity

Yasmine Aguib, Mona Allouba, Roddy Walsh, Ayman Maher Ibrahim, Sarah Halawa, Alaa Afify, Mohamed Hosny, Pantazis I. Theotokis, Aya A. Galal, Sara Elshorbagy, Mohamed Roshdy, Heba Sh. Kassem, Amany Ellithy, Rachel J. Buchan, Nicola Whiffin, , Magdi Habib Yacoub

The paper identifies a frameshift variant in MYH7 associated with HCM in an Egyptian cohort, revealing a new pathogenic mechanism involving distal PTC escape from NMD.

Circulation · Aug 30, 2021Peer-reviewedGenetic & Genomic Medicine