Author

Kira A. Dies

Boston Children's HospitalORCID 0000-0002-0877-8533Unclaimed 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 Organism:Drosophila· 1 Research Focus:drug response / drug discovery· 1 Assay:electronic health records· 1

Frequent Co-Authors

Alali AbdulrazakiD· 1 shared Alban C. ZiegleriD· 1 shared Alexander KolevzoniD· 1 shared Amber Hogart BegtrupiD· 1 shared Amélie Bosc-RosatiiD· 1 shared Andrew Nahum DauberiD· 1 shared Andrew T. TimberlakeiD· 1 shared Anita M. RauchiD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Alali AbdulrazakORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden, Amélie Bosc-Rosati, Tzung‐Chien Hsieh, Lise Bray, Marielle Oloudé, Cory Scott Rosenfelt, Marie‐Pier Scott‐Boyer, Victoria Most, Tianyun Wang, Jonas Johannes Papendorf, Charlotte de Konink, Wallid Deb, Virginie Vignard, , Marta Codina‐Solà

The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.

Nature Communications · Nov 26, 2025Peer-reviewedGenetic & Genomic Medicine

Large deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

Michael S. Breen, Xuanjia Fan, Tess Levy, Rebecca M. Pollak, Brett L. Collins, Aya Osman, Anna S. Tocheva, Mustafa Şahin, Elizabeth Berry‐Kravis, Latha Valluripalli Soorya, Audrey E. Thurm, Craig M. Powell, Jonathan Adam Bernstein, Alexander Kolevzon, Joseph D. Buxbaum, , Jennifer M. Phillips

This study identifies molecular differences between PMS patients with small and large deletions, showing reduced cytotoxic cell signatures and sphingolipid metabolism in large deletions.

Human Genetics and Genomics Advances · Sep 26, 2022Peer-reviewedGenetic & Genomic Medicine