Author

Breana Cham

KK Women's and Children's HospitalORCID 0000-0002-2915-9846Unclaimed 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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Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Aida Maria Bertoli‐AvellaiD· 1 shared Almundher A. Al-MaawaliiD· 1 shared Alvin Yu Jin NgiD· 1 shared Bruno ReversadeiD· 1 shared Byrappa VenkateshiD· 1 shared Carine BonnardiD· 1 shared Christian A. E. Westrip· 1 shared Ee Shien Tan· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aida Maria Bertoli‐AvellaORCID

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Author profile →

1 paper

Recent·Most cited

Inactivation of DRG1, encoding a translation factor GTPase, causes a Recessive Neurodevelopmental Disorder

Christian A. E. Westrip, Franziska Paul, Fathiya M. Al-Murshedi, Hashim Qaitoon, Breana Cham, Sally C. Fletcher, Eline Hendrix, Uncaar Boora, Alvin Yu Jin Ng, Carine Bonnard, Maryam Najafi, Salem Alawbathani, Imelda Lambert, Gabriel Padraigh Fox, Byrappa Venkatesh, , Mathew L. Coleman

This study identifies rare DRG1 variants causing a recessive neurodevelopmental disorder and shows their functional impact on GTPase activity and protein stability.

Genetics in Medicine · May 11, 2023Peer-reviewedGenetic & Genomic Medicine