Evidence map›Paper›PMID 41278953›Full record

ArticlebioRxiv : the preprint server for biology2025

Large-scale discovery of neural enhancers for cis-regulation therapies.

Troy A McDiarmid, Nicholas F Page, Florence M Chardon, Riza M Daza, George T Chen, Michael Kosicki, Lucas M James, Hannah C Nourie, Dianne Laboy-Cintrón, Arthur S Lee and 13 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article 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.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

23 authors.

Troy A McDiarmidDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.
Nicholas F PageDepartment of Psychiatry and Behavioral Sciences, University of California, San Francisco, San Francisco, CA, USA.
Florence M ChardonDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.
Riza M DazaDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.
George T ChenProgram in Neurogenetics, Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Michael KosickiEnvironmental Genomics & System Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
Lucas M JamesUNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Hannah C NourieUNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Dianne Laboy-CintrónDepartment of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA, USA.
Arthur S LeeCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Paula VijStem Cell Program and Gene Therapy Center, Institute for Regenerative Cures, MIND Institute, and Department of Neurology, University of California Davis Health, Sacramento, CA 95817.
Diego CalderonDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.
Jean-Benoît LalanneDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.
Beth K MartinDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.
Kyle FinkStem Cell Program and Gene Therapy Center, Institute for Regenerative Cures, MIND Institute, and Department of Neurology, University of California Davis Health, Sacramento, CA 95817.
Michael E TalkowskiCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Alysson R MuotriDepartments of Pediatrics; School of Medicine, UCSD, La Jolla, CA 92093, USA.
Benjamin D PhilpotUNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Len A PennacchioEnvironmental Genomics & System Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
Daniel H GeschwindProgram in Neurogenetics, Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Stephan J SandersDepartment of Psychiatry and Behavioral Sciences, University of California, San Francisco, San Francisco, CA, USA.
Nadav AhituvDepartment of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA, USA.
Jay ShendureDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.

Funding

Generation of an In Vivo Human Genome Transcriptional Enhancer DatasetR01HG003988 · NHGRI · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI Len Alexander Pennacchio · 2006 to 2026
$24.1M
Broad Institute Mendelian Genomic Research CenterU01HG011755 · NHGRI · BROAD INSTITUTE, INC. · PI Anne O'Donnell-Luria, MICHAEL E TALKOWSKI · 2021 to 2026
$14.6M
Higher Order Chromatin and Genetic Risk for Alzheimer's DiseaseR01AG050986 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI ROUSSOS, PANAGIOTIS · 2015 to 2025
$11.2M
Massively parallel characterization of variants and elements impacting transcriptional regulation in dynamic cellular systemsUM1HG011966 · NHGRI · UNIVERSITY OF WASHINGTON · PI Nadav Ahituv, Jay Ashok Shendure · 2021 to 2026
$9.7M
UCLA High-Throughput Neuropsychiatric Disorder Phenotyping Center (UCLA HT-NPC)RM1MH132651 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DANIEL H GESCHWIND, BENNETT G NOVITCH · 2023 to 2026
$6.5M
Scalable tool and comprehensive maps to interpret structural variation across the neuropsychiatric spectrumR01MH115957 · NIMH · BROAD INSTITUTE, INC. · PI TALKOWSKI, MICHAEL E · 2019 to 2025
$5.4M
HIGHLY PARALLEL ANALYSIS OF 5' AND 3' UTR VARIANTS IN NEURODEVELOPMENTAL DISORDERSR01MH116999 · NIMH · WASHINGTON UNIVERSITY · PI JOSEPH D DOUGHERTY · 2018 to 2026
$5.1M
Multiethnic genomic epigenomic and transcriptomic fine-mapping and functional validation analysis of schizophrenia and bipolar disorder risk lociR01MH125246 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI ROUSSOS, PANAGIOTIS · 2021 to 2025
$5.0M
2/2-Discovery and validation of neuronal enhancers associated with the development of psychiatric disordersU01MH116489 · NIMH · UNIVERSITY OF CHICAGO · PI GAYNOR, SOPHIA, GESCHWIND, DANIEL H · 2018 to 2022
$4.5M
Evaluating the Impact of Mutations in Distant-Acting Enhancers in Structural Birth DefectsR01HD114353 · NICHD · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI Len Alexander Pennacchio, Axel Visel · 2023 to 2026
$3.3M
The Genomic Architecture of Pregnancy LossR01HD105266 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI TALKOWSKI, MICHAEL E, WAPNER, RONALD · 2021 to 2024
$3.1M
Small Molecule Therapeutic Discovery for Angelman SyndromeR01NS131615 · NINDS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Jeffrey Aube, BENJAMIN D PHILPOT · 2023 to 2026
$2.3M
NHGRI NIH HHS F32 HG011817NHGRI NIH HHS R01 HG003988NHGRI NIH HHS U01 HG011755NHGRI NIH HHS UM1 HG011966NIA NIH HHS R01 AG050986NICHD NIH HHS R01 HD105266NICHD NIH HHS R01 HD114353NIMH NIH HHS F32 MH124337NIMH NIH HHS R01 MH115957NIMH NIH HHS R01 MH116999NIMH NIH HHS R01 MH123828NIMH NIH HHS R01 MH125246NIMH NIH HHS R01 MH129722NIMH NIH HHS RM1 MH132651NIMH NIH HHS U01 MH116489NIMH NIH HHS U01 MH122681NINDS NIH HHS R01 NS114086NINDS NIH HHS R01 NS129914NINDS NIH HHS R01 NS131615
6 · The paper itself

Abstract

CRISPR-based gene activation (CRISPRa) has emerged as a promising therapeutic approach for neurodevelopmental disorders (NDD) caused by haploinsufficiency. However, scaling this

Identifiers

PMID41278953
PMCPMC12637570

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.