Author

Christopher T. Gordon

InsermORCID 0000-0002-9300-8399Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 2 Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1

Frequent Co-Authors

Thuy-Linh LeiD· 2 shared Ahmet Oguzhan OzeniD· 1 shared Ana KroloiD· 1 shared Anju ShuklaiD· 1 shared Anshika SrivastavaiD· 1 shared Ashleigh E. SchafferiD· 1 shared Brandon A. BergeriD· 1 shared Christian D. Pfennig· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Thuy-Linh LeORCID

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2 papers

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

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome

Elizabeth A. Werren, Geneva R. LaForce, Anshika Srivastava, Delia R. Perillo, Katherine Johnson, Safa Barış, Brandon A. Berger, Samantha L. Regan, Christian D. Pfennig, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raúl Jiménez Heredia, Elif Karakoç-Aydıner, Ahmet Oguzhan Ozen, , Ashleigh E. Schaffer

This study investigates mRNA processing defects in THOC6 intellectual disability syndrome by analyzing human and mouse models, revealing mRNA mis-splicing and novel TREX tetramer functions.

bioRxiv · Sep 6, 2022 · PreprintMolecular Biology