Author

Chanika Phornphutkul

Brown UniversityORCID 0000-0002-0130-9101Unclaimed 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:cell type annotation· 2 Research Focus:differential expression· 2 Approach:experimental assay· 2 Approach:statistical model· 2 Organism:zebrafish· 2 Assay:bulk RNA-seq· 1 Assay:ChIP-seq· 1 Assay:DNA methylation· 1

Frequent Co-Authors

Abolfazl RadiD· 1 shared Ahmed Aly IbrahimiD· 1 shared Alain VerloèsiD· 1 shared Albena Todorova· 1 shared Alekh ParanjapyeiD· 1 shared Alihossein Sabri· 1 shared Alireza SedaghatiD· 1 shared Allan Micheil InnesiD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abolfazl RadORCID

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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

Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder

Marissa J. Maroni, Melissa Barton, Katherine Lynch, Ashish R. Deshwar, Philip D. Campbell, Josephine Millard, Rachel Lee, Annastelle Cohen, Rili Ahmad, Alekh Paranjapye, Víctor Faùndes, Gabriela M. Repetto, Caoimhe S. McKenna, Amelle Shillington, Chanika Phornphutkul, , Erica Korb

This study shows that partial loss of DOT1L causes transcriptional, morphological, and behavioral defects in neurons across multiple models.

medRxiv · Oct 31, 2024 · PreprintGenetic & Genomic Medicine