ArticlebioRxiv : the preprint server for biology2025
Mosaic H3K9me3 at BREACHes predicts synaptic gene expression associated with fragile X syndrome cognitive severity.
Kenneth Pham, Thomas Malachowski, Linda Zhou, Ji Hun Kim, Chuanbin Su, Jennifer E Phillips-Cremins
Abstract readPreprint
In one paragraphArticle in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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What it found
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4 · The recordCorrections and comments
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5 · Who and what moneyAuthors and funding
6 authors.
Kenneth PhamDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.ORCID 0000-0002-3352-9870 Thomas MalachowskiDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Linda ZhouDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Ji Hun KimDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Chuanbin SuDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Jennifer E Phillips-CreminsDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Funding
From 3D genomes to neural connectomes: Higher-order chromatin mechanisms encoding long-term memoryDP1MH129957 · NIMH · WASHINGTON UNIVERSITY · PI PHILLIPS-CREMINS, JENNIFER ELIZABETH · 2021 to 2025
$5.7MEngineering and Imaging 3D genome structure-function dynamics across time scalesU01DK127405 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI BLOBEL, GERD A, PHILLIPS-CREMINS, JENNIFER ELIZABETH · 2020 to 2024
$5.7MSingle-cell dissection of chromatin architecture mechanisms connecting pathologic instability and transcriptional silencingU01DA052715 · NIDA · UNIVERSITY OF PENNSYLVANIA · PI JAIN, RAJAN, JOYCE, ERIC F. · 2020 to 2024
$3.1MConnecting 3D genome misfolding to transcriptional silencing in fragile X syndromeR01MH120269 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI PHILLIPS-CREMINS, JENNIFER ELIZABETH · 2019 to 2024
$3.1MConnecting 3D genome misfolding to transcriptional silencing in fragile X syndromeR37MH120269 · NIMH · WASHINGTON UNIVERSITY · PI Jennifer Elizabeth Phillips-Cremins · 2025 to 2026
$1.0MElucidating the spatially coordinated mechanisms of transcriptional silencing in fragile X syndromeF30HD114405 · NICHD · UNIVERSITY OF PENNSYLVANIA · PI Kenneth Pham · 2024 to 2026
$147kElucidating the RNA-mediated mechanisms governing H3K9me3 deposition in fragile X syndromeF31NS129317 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI MALACHOWSKI, THOMAS ERNST · 2022 to 2024
$143kNICHD NIH HHS F30 HD114405NIDA NIH HHS U01 DA052715NIDDK NIH HHS U01 DK127405NIMH NIH HHS DP1 MH129957NIMH NIH HHS R01 MH120269NIMH NIH HHS R37 MH120269NINDS NIH HHS F31 NS129317
6 · The paper itselfAbstract
Diseases vary in clinical presentation across individuals despite the same molecular diagnosis. In fragile X syndrome (FXS), mutation-length expansion of a CGG short tandem repeat (STR) in
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PMID40166285
PMCPMC11957133
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