Evidence map›Paper›PMID 40481237›Full record

ArticleNature biomedical engineering2025

Neuroimaging endophenotypes reveal underlying mechanisms and genetic factors contributing to progression and development of four brain disorders.

Junhao Wen, Ioanna Skampardoni, Ye Ella Tian, Zhijian Yang, Yuhan Cui, Guray Erus, Gyujoon Hwang, Erdem Varol, Aleix Boquet-Pujadas, Ganesh B Chand and 7 more

Abstract read
In one paragraph

Article in Nature biomedical engineering, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

17 authors.

Junhao WenLaboratory of AI and Biomedical Science (LABS), Columbia University, New York, NY, USA. junhao.wen89@gmail.com.ORCID http://orcid.org/0000-0003-2077-3070
Ioanna SkampardoniArtificial Intelligence in Biomedical Imaging Laboratory (AIBIL), Center for AI and Data Science for Integrated Diagnostics (AI2D), Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Ye Ella TianSystems Lab, Department of Psychiatry, Melbourne Medical School, The University of Melbourne, Melbourne, Victoria, Australia.ORCID http://orcid.org/0000-0003-3107-5550
Zhijian YangArtificial Intelligence in Biomedical Imaging Laboratory (AIBIL), Center for AI and Data Science for Integrated Diagnostics (AI2D), Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Yuhan CuiArtificial Intelligence in Biomedical Imaging Laboratory (AIBIL), Center for AI and Data Science for Integrated Diagnostics (AI2D), Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Guray ErusArtificial Intelligence in Biomedical Imaging Laboratory (AIBIL), Center for AI and Data Science for Integrated Diagnostics (AI2D), Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0001-6633-4861
Gyujoon HwangDepartment of Psychiatry and Behavioral Medicine, Medical College of Wisconsin, Milwaukee, WI, USA.ORCID http://orcid.org/0000-0002-9497-2999
Erdem VarolDepartment of Computer Science and Engineering, New York University, New York, NY, USA.
Aleix Boquet-PujadasLaboratory of AI and Biomedical Science (LABS), Columbia University, New York, NY, USA.ORCID http://orcid.org/0000-0002-3300-8004
Ganesh B ChandDepartment of Radiology, School of Medicine, Washington University in St. Louis, St. Louis, MO, USA.
Ilya M NasrallahArtificial Intelligence in Biomedical Imaging Laboratory (AIBIL), Center for AI and Data Science for Integrated Diagnostics (AI2D), Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0003-2346-7562
Theodore D SatterthwaiteDepartment of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0001-7072-9399
Haochang ShouArtificial Intelligence in Biomedical Imaging Laboratory (AIBIL), Center for AI and Data Science for Integrated Diagnostics (AI2D), Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-3043-047X
Li ShenDepartment of Biostatistics, Epidemiology and Informatics University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-5443-0503
Arthur W TogaLaboratory of Neuro Imaging (LONI), Stevens Neuroimaging and Informatics Institute, Keck School of Medicine of USC, University of Southern California, Los Angeles, CA, USA.
Andrew ZaleskySystems Lab, Department of Psychiatry, Melbourne Medical School, The University of Melbourne, Melbourne, Victoria, Australia.ORCID http://orcid.org/0000-0003-2298-9908
Christos DavatzikosArtificial Intelligence in Biomedical Imaging Laboratory (AIBIL), Center for AI and Data Science for Integrated Diagnostics (AI2D), Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. christos.davatzikos@pennmedicine.upenn.edu.ORCID http://orcid.org/0000-0002-1025-8561

Funding

Machine Learning and Large-scale Imaging analytics for dimensional representations of brain trajectories in aging and preclinical Alzheimer's Disease: The brain aging chart and the iSTAGING consortiumRF1AG054409 · NIA · UNIVERSITY OF PENNSYLVANIA · PI DAVATZIKOS, CHRISTOS · 2017 to 2023
$6.3M
The Neuroimaging Brain Chart Software SuiteU24NS130411 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI Christos Davatzikos, Yong Fan · 2023 to 2026
$3.7M
Mapping amyloid, tau, and neurodegeneration markers with neuropsychiatric phenotypes and genotypes in Alzheimer's disease continuum using machine learningRF1AG087271 · NIA · WASHINGTON UNIVERSITY · PI CHAND, GANESH · 2025 to 2025
$3.2M
Machine Learning and Large-scale Imaging analytics for dimensional representations of brain trajectories in aging and preclinical Alzheimer's Disease: The brain aging chart and the iSTAGING consortiumR01AG054409 · NIA · UNIVERSITY OF PENNSYLVANIA · PI Christos Davatzikos · 2025 to 2026
$1.4M
Characterizing Alzheimer's disease molecular and anatomical imaging markers and their relationships with cognition and genetics using machine learningK01AG083230 · NIA · WASHINGTON UNIVERSITY · PI Ganesh Chand · 2023 to 2026
$476k
NIA NIH HHS K01 AG083230NIA NIH HHS R01 AG054409NIA NIH HHS RF1 AG054409NIA NIH HHS RF1 AG087271NINDS NIH HHS U24 NS130411
6 · The paper itself

Abstract

Recent work leveraging artificial intelligence has offered promise to dissect disease heterogeneity by identifying complex intermediate brain phenotypes, called dimensional neuroimaging endophenotypes (DNEs). We advance the argument that these DNEs capture the degree of expression of respective neuroanatomical patterns measured, offering a dimensional neuroanatomical representation for studying disease heterogeneity and similarities of neurologic and neuropsychiatric diseases. We investigate the presence of nine DNEs derived from independent yet harmonized studies on Alzheimer's disease, autism spectrum disorder, late-life depression and schizophrenia in the UK Biobank study. Phenome-wide associations align with genome-wide associations, revealing 31 genomic loci (P < 5 × 10

Indexed as

Brain DiseasesEndophenotypesNeuroimagingAgedAlzheimer DiseaseAutism Spectrum DisorderBrainDisease ProgressionFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiddle AgedMultifactorial InheritancePhenotype

Identifiers

PMID40481237
PMCPMC12955822

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.