Author

Ali Reza Tavasoli

Children's Medical CenterORCID 0000-0003-0440-5809Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

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Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Ariana KariminejadiD· 1 shared Bruno ReversadeiD· 1 shared Calista Ng· 1 shared Carine BonnardiD· 1 shared Charles B.L.M. MajoieiD· 1 shared Franziska PauliD· 1 shared Guy Armand RouleauiD· 1 shared Hane LeeiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ariana KariminejadORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineHuman Molecular GeneticsPeer-reviewedJun 2, 2022

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

Franziska Paul, Calista Ng, Umar Bin Mohamad Sahari…·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.

DOI 10.1093/hmg/ddac120

humanstatistical model

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