Author

Charles B.L.M. Majoie

Amsterdam UMC Location University of AmsterdamORCID 0000-0002-7600-9568Unclaimed 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 Approach:statistical model· 1

Frequent Co-Authors

Ali Reza TavasoliiD· 1 shared Ariana KariminejadiD· 1 shared Bruno ReversadeiD· 1 shared Calista Ng· 1 shared Carine BonnardiD· 1 shared Franziska PauliD· 1 shared Guy Armand RouleauiD· 1 shared Hane LeeiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ali Reza TavasoliORCID

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1 paper

Recent·Most cited

RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation causing a distinct Mendelian Disorder

Franziska Paul, Calista Ng, Umar Bin Mohamad Sahari, Shahriar Nafissi, Yalda Nilipoor, Ali Reza Tavasoli, Carine Bonnard, Pui‐Mun Wong, Nasrinsadat Nabavizadeh, Umut Altunoğlu, Mehrdad A. Estiar, Charles B.L.M. Majoie, Hane Lee, Stanley F. Nelson, Ziv Gan‐Or, , Bruno Reversade

This study identifies two RBSN missense variants causing a Mendelian disorder with muscle weakness and intellectual disability by disrupting endosomal recycling and lysosomal degradation.

Human Molecular Genetics · Jun 2, 2022Peer-reviewedGenetic & Genomic Medicine