Evidence map›Paper›PMID 40036988›Full record

ReviewCurrent opinion in neurobiology2025

Single-cell technology grows up: Leveraging high-resolution omics approaches to understand neurodevelopmental disorders.

Joseph D Dougherty, Simona Sarafinovska, Sneha M Chaturvedi, Travis E Law, Titilope M Akinwe, Harrison W Gabel

Abstract readReview
In one paragraph

Review in Current opinion in neurobiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

6 authors.

Joseph D DoughertyDepartment of Genetics, Washington University School of Medicine, Saint Louis, MO, USA; Department of Psychiatry, Washington University School of Medicine, Saint Louis, MO, USA; Intellectual and Developmental Disabilities Research Center, Washington University School of Medicine, Saint Louis, MO, USA. Electronic address: jdougherty@wustl.edu.
Simona SarafinovskaDepartment of Genetics, Washington University School of Medicine, Saint Louis, MO, USA; Department of Psychiatry, Washington University School of Medicine, Saint Louis, MO, USA; Intellectual and Developmental Disabilities Research Center, Washington University School of Medicine, Saint Louis, MO, USA.
Sneha M ChaturvediDepartment of Genetics, Washington University School of Medicine, Saint Louis, MO, USA; Department of Psychiatry, Washington University School of Medicine, Saint Louis, MO, USA; Intellectual and Developmental Disabilities Research Center, Washington University School of Medicine, Saint Louis, MO, USA.
Travis E LawDepartment of Neuroscience, Washington University School of Medicine, Saint Louis, MO, USA; Intellectual and Developmental Disabilities Research Center, Washington University School of Medicine, Saint Louis, MO, USA.
Titilope M AkinweDepartment of Genetics, Washington University School of Medicine, Saint Louis, MO, USA; Department of Psychiatry, Washington University School of Medicine, Saint Louis, MO, USA.
Harrison W GabelDepartment of Neuroscience, Washington University School of Medicine, Saint Louis, MO, USA; Intellectual and Developmental Disabilities Research Center, Washington University School of Medicine, Saint Louis, MO, USA.

Funding

WUIDDRC Supplement-Supporting the health and well-being of children with intellectual and developmental disability during COVID-19 pandemicP50HD103525 · NICHD · WASHINGTON UNIVERSITY · PI JEFFREY D MILBRANDT · 2020 to 2026
$15.5M
INSTITUTIONAL TRAINING GRANT IN GENOMIC SCIENCET32HG000045 · NHGRI · WASHINGTON UNIVERSITY · PI MICHAEL R BRENT, Barak A Cohen · 1997 to 2026
$8.4M
SIGNAL TRANSDUCTION PATHWAYS REGULATING NEURON SURVIVALR01NS041021 · NINDS · WASHINGTON UNIVERSITY · PI GABEL, HARRISON W · 2001 to 2023
$7.7M
Training Program in Cellular and Molecular BiologyT32GM139774 · NIGMS · WASHINGTON UNIVERSITY · PI HEATHER L TRUE-KROB · 2021 to 2026
$6.7M
HIGHLY PARALLEL ANALYSIS OF 5' AND 3' UTR VARIANTS IN NEURODEVELOPMENTAL DISORDERSR01MH116999 · NIMH · WASHINGTON UNIVERSITY · PI JOSEPH D DOUGHERTY · 2018 to 2026
$5.1M
MECHANISMS OF EPIGENETIC REGULATION IN NERVOUS SYSTEM DEVELOPMENTR01MH117405 · NIMH · WASHINGTON UNIVERSITY · PI Harrison W Gabel · 2019 to 2026
$3.9M
Regulation of local translation in gliaR01NS102272 · NINDS · WASHINGTON UNIVERSITY · PI JOSEPH D DOUGHERTY · 2017 to 2026
$3.8M
Genomic and functional characterization of ASD and ID-associated MYT1L mutationR01MH124808 · NIMH · WASHINGTON UNIVERSITY · PI KROLL, KRISTEN L · 2021 to 2025
$3.7M
Molecular recording to predict cell fate decisions and animal behaviorRF1MH126723 · NIMH · WASHINGTON UNIVERSITY · PI DOUGHERTY, JOSEPH D, MITRA, ROBI D · 2021 to 2021
$3.7M
GENOMIC ANALYSES OF DROSOPHILA DEVELOPMENTK22HG000045 · NHGRI · YALE UNIVERSITY · PI WHITE, KEVIN P · 2000 to 2004
$1.3M
Exploring Feasibility of Gene-Targeted Therapeutics for Epigenetic Neurodevelopmental DisordersR21NS137088 · NINDS · WASHINGTON UNIVERSITY · PI GABEL, HARRISON W · 2024 to 2025
$428k
NHGRI NIH HHS K22 HG000045NHGRI NIH HHS T32 HG000045NICHD NIH HHS P50 HD103525NIGMS NIH HHS T32 GM139774NIMH NIH HHS R01 MH116999NIMH NIH HHS R01 MH117405NIMH NIH HHS R01 MH124808NIMH NIH HHS RF1 MH126723NINDS NIH HHS R01 NS041021NINDS NIH HHS R01 NS102272NINDS NIH HHS R21 NS137088
6 · The paper itself

Abstract

The identification of hundreds of neurodevelopmental disorder (NDD) genes in the last decade led to numerous genetic models for understanding NDD gene mutation consequences and delineating putative neurobiological mediators of disease. In parallel, single-cell and single-nucleus genomic technologies have been developed and implemented to create high-resolution atlases of cell composition, gene expression, and circuit connectivity in the brain. Here, we discuss the opportunities to leverage mutant models (or human tissue, where available) and genomics approaches to systematically define NDD etiology at cellular resolution. We review progress in applying single-cell and spatial transcriptomics to interrogate developmental trajectories, cellular composition, circuit activity, and connectivity across human tissue and NDD models. We discuss considerations for implementing these approaches at scale to maximize insights and facilitate reproducibility. Finally, we highlight how standardized application of these technologies promises to not only define etiologies of individual disorders but also identify molecular, cellular, and circuit level convergence across NDDs.

Indexed as

GenomicsNeurodevelopmental DisordersSingle-Cell AnalysisAnimalsHumans

Identifiers

PMID40036988
PMCPMC12532123

What Socratic holds

Textmetadata
LicenceTDM
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 Socratic graph.