Author

Thuy-Linh Le

InsermORCID 0009-0009-6857-8435Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 3 Approach:statistical model· 3 Assay:bulk RNA-seq· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Organism:mouse· 2 Research Focus:cell type annotation· 1 Approach:experimental assay· 1

Frequent Co-Authors

Christopher T. GordoniD· 2 shared Ahmet Oguzhan OzeniD· 1 shared Alice S. BrooksiD· 1 shared Ana KroloiD· 1 shared Anju ShuklaiD· 1 shared Annelies de KleiniD· 1 shared Anshika SrivastavaiD· 1 shared Anwarul KarimiD· 1 shared

Activity by Year

2021-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Christopher T. GordonORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 19, 2023

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…·Hagar Mor‐Shaked

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

2 citations

humanbulk RNA-seq

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Molecular BiologybioRxivPreprintSep 6, 2022

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome

Elizabeth A. Werren, Geneva R. LaForce, Anshika Srivastava…·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.

DOI 10.1101/2022.09.06.506502

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Genetic & Genomic MedicinePLoS GeneticsPeer-reviewedAug 6, 2021

Size matters: large copy number losses reveal novel Hirschsprung disease genes

Laura E. Kuil, Katherine C. MacKenzie, Clara Sze-Man Tang…·Erwin Brosens

The paper identifies large copy number losses as contributors to Hirschsprung disease, specifically in HSCR-AAM patients, and validates four genes involved in enteric nervous system development.

28 citationstop 3%

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