Author

Paul J. Benke

Joe DiMaggio Children's Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 2 Research Focus:differential expression· 2 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Approach:statistical model· 2 Organism:zebrafish· 2 Assay:DNA methylation· 1 Organism:human· 1

Frequent Co-Authors

Julie A. FleischeriD· 2 shared Abolfazl RadiD· 1 shared Adam JacksoniD· 1 shared Alexander P.A. StegmanniD· 1 shared Alihossein Sabri· 1 shared Alireza SedaghatiD· 1 shared Alper GezdiriciiD· 1 shared Ana Beleza‐MeirelesiD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Julie A. FleischerORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

Stéphanie Efthymiou, Cailyn P Leo, Chenghong Deng, Sheng‐Jia Lin, Reza Maroofian, Renee Lin, Irem Karagoz, Kejia Zhang, Rauan B. Kaiyrzhanov, Annarita Scardamaglia, Daniel Owrang, Valentina Turchetti, Friederike Jahnke, Kevin Huang, Cassidy Petree, , Dragony Fu

This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.

The American Journal of Human Genetics · Apr 16, 2025Peer-reviewedGenetic & Genomic Medicine

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Ilaria Mannucci, Nghi Doan-Phuong Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth S Baynam, David R. Bearden, Ana Beleza‐Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frédéric Bilan, Laurence Albert Bindoff, , Davor Lessel

This study identifies 25 individuals with DHX30 mutations, showing two clinical subtypes based on variant type and severity of developmental and neurological symptoms.

Genome Medicine · May 21, 2021Peer-reviewedGenetic & Genomic Medicine