Author

Louis R. Ghanem

Children's Hospital of PhiladelphiaORCID 0000-0002-7723-5241Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

David S.M. LeeiD· 2 shared Yoseph BarashiD· 2 shared Andrew Kromer· 1 shared Aris BarasiD· 1 shared Daniel James RaderiD· 1 shared Joseph ParkiD· 1 shared Marylyn DeRiggi RitchieiD· 1 shared

Activity by Year

2020-2021 · peak 1/yr

Co-Author Collaboration Network

7 top collaborators · 21 mutual co-author links

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2 shared papersGenomics

David S.M. LeeORCID

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2 papers

Recent·Most cited

Disrupting upstream translation in mRNAs leads to loss-of function associated with human disease

David S.M. Lee, Joseph Park, Andrew Kromer, Aris Baras, Daniel James Rader, Marylyn DeRiggi Ritchie, Louis R. Ghanem, Yoseph Barash

The paper identifies uORF variants that disrupt upstream translation and are under strong negative selection, linking them to gene-disease associations and loss-of-function in human genes.

Nature Communications · Mar 9, 2021Peer-reviewedGenomics

Integrative analysis reveals RNA G-Quadruplexes in UTRs are selectively constrained and enriched for functional associations

David S.M. Lee, Louis R. Ghanem, Yoseph Barash

The paper identifies G-quadruplex sequences in UTRs as functionally constrained and enriched for cis-eQTLs and RNA-binding protein interactions, linking them to disease associations.

Nature Communications · Jan 27, 2020Peer-reviewedGenomics