Author

Divya Pachat

Malabar Institute of Medical SciencesORCID 0000-0002-0059-3294Unclaimed 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

Christopher T. GordoniD· 1 shared Eden EngaliD· 1 shared Evyatar Mor· 1 shared Giovanni ZifarelliiD· 1 shared Hagar Mor‐ShakediD· 1 shared Hane LeeiD· 1 shared Henry HouldeniD· 1 shared Joseph G. GleesoniD· 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

Christopher T. GordonORCID

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1 paper

Recent·Most cited

Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome

Eden Engal, Kaisa Teele Oja, Reza Maroofian, Ophir Geminder, Thuy-Linh Le, Evyatar Mor, Naama Tzvi, Naama Elefant, Maha Saad Zaki, Joseph G. Gleeson, Kai Muru, Sander Pajusalu, Monica Hsiung Wojcik, Divya Pachat, Marwa Saeed Abd Elmaksoud, , Hagar Mor‐Shaked

This study identifies biallelic loss-of-function variants in WBP4 as a cause of a neurodevelopmental syndrome with variable manifestations.

medRxiv · Jun 19, 2023 · PreprintGenetic & Genomic Medicine