Evidence map›Paper›PMID 28450582›Full record

ReviewScience (New York, N.Y.)2017

Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network.

Michael J McConnell, John V Moran, Alexej Abyzov, Schahram Akbarian, Taejeong Bae, Isidro Cortes-Ciriano, Jennifer A Erwin, Liana Fasching, Diane A Flasch, Donald Freed and 30 more

Open access · greenAbstract readReview
In one paragraph

Review in Science (New York, N.Y.), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 135 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
135citing papers in PubMed, 1 pooled it
31.3field-weighted citation impact, top 1% of its field
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

135 citing papers in PubMed, 1 synthesis or guideline pooled it, 279 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
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  9. DraftMicrobiology resource announcements · 2025
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  15. A microglia clonal inflammatory disorder in Alzheimer's Disease.bioRxiv : the preprint server for biology · 2024
    Article
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  20. Article

75 more citing papers are in PubMed but not listed here.

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

40 authors at 16 institutions in 2 countries.

Michael J McConnellORCID 0000-0002-0492-7095
Alexej Abyzov
Schahram AkbarianORCID 0000-0001-7700-0891
Isidro Cortes-CirianoORCID 0000-0002-2036-494X
Liana Fasching
Donald Freed
Minseok Kwon
Chaggai RosenbluhORCID 0000-0003-3329-1396
Maxwell A Sherman
Jeremy Thorpe
Daniel R Weinberger
Alexander E UrbanORCID 0000-0001-9772-933X
Christopher A Walsh
Joseph G Gleeson
Peter J Park
Flora M VaccarinoORCID 0000-0003-2167-981X
Brain Somatic Mosaicism Network
University of Michigan · USBroad Institute · USHarvard University · USLieber Institute for Brain Development · USAllen Institute for Brain Science · USHoward Hughes Medical Institute · USKennedy Krieger Institute · USPalo Alto University · USSalk Institute for Biological Studies · USYale University · USMayo Clinic · USNational Institute of Mental Health · USWashtenaw Community College · USJohns Hopkins University · USUniversity of California San Diego · USUniversity of Virginia Health System · US

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
Viral Vector Core (VVC)P30CA014195 · NCI · SALK INSTITUTE FOR BIOLOGICAL STUDIES · PI Ye Zheng · 1985 to 2026
$82.8M
Medical Scientist Training ProgramT32GM007753 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI WALENSKY, LOREN DAVID · 1985 to 2021
$50.0M
University of Michigan Training Program in Genomic ScienceT32HG000040 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Sebastian Zoellner · 1995 to 2026
$16.4M
PREDOCTORAL TRAINING IN GENETICST32GM007544 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI MORAN, JOHN V. · 1985 to 2022
$11.3M
FELLOWSHIP IN GERIATRIC MENTAL HEALTHT32MH019934 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Elizabeth W Twamley · 1994 to 2026
$9.5M
1/2-Somatic mosaicism and autism spectrum disorderU01MH106883 · NIMH · BOSTON CHILDREN'S HOSPITAL · PI PARK, PETER J, WALSH, CHRISTOPHER A. · 2015 to 2019
$9.2M
U of Calif, San Diego Neuroscience Microscopy ImagingP30NS047101 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G, ZHENG, BINHAI · 2003 to 2022
$9.0M
Translational Neuroscience CoreU54HD079123 · NICHD · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI KRAUT, MICHAEL A · 2014 to 2019
$7.9M
Somatic Mosaicism in Schizophrenia and Control BrainsU01MH106891 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI AKBARIAN, SCHAHRAM, CHESS, ANDREW J · 2015 to 2019
$7.3M
Project 3. Genetic Models of Human Structural Brain Defects in ZebrafishP01HD070494 · NICHD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2011 to 2016
$6.7M
Somatic Mosaicism in the Brain of Tourette SyndromeU01MH106876 · NIMH · YALE UNIVERSITY · PI VACCARINO, FLORA M · 2015 to 2019
$6.1M
NCATS NIH HHS UL1 TR001863NCI NIH HHS P30 CA014195NHGRI NIH HHS T32 HG000040NIA NIH HHS K01 AG051791NICHD NIH HHS P01 HD070494NICHD NIH HHS U54 HD079123NICHD NIH HHS U54 HD090255NIGMS NIH HHS T32 GM007544NIGMS NIH HHS T32 GM007753NIMH NIH HHS R01 MH100914NIMH NIH HHS R01 MH110558NIMH NIH HHS T32 MH019934NIMH NIH HHS U01 MH106874NIMH NIH HHS U01 MH106876NIMH NIH HHS U01 MH106882NIMH NIH HHS U01 MH106883NIMH NIH HHS U01 MH106884NIMH NIH HHS U01 MH106891NIMH NIH HHS U01 MH106892NIMH NIH HHS U01 MH106893NIMH NIH HHS U01 MH108898NINDS NIH HHS P30 NS047101
6 · The paper itself

Abstract

Neuropsychiatric disorders have a complex genetic architecture. Human genetic population-based studies have identified numerous heritable sequence and structural genomic variants associated with susceptibility to neuropsychiatric disease. However, these germline variants do not fully account for disease risk. During brain development, progenitor cells undergo billions of cell divisions to generate the ~80 billion neurons in the brain. The failure to accurately repair DNA damage arising during replication, transcription, and cellular metabolism amid this dramatic cellular expansion can lead to somatic mutations. Somatic mutations that alter subsets of neuronal transcriptomes and proteomes can, in turn, affect cell proliferation and survival and lead to neurodevelopmental disorders. The long life span of individual neurons and the direct relationship between neural circuits and behavior suggest that somatic mutations in small populations of neurons can significantly affect individual neurodevelopment. The Brain Somatic Mosaicism Network has been founded to study somatic mosaicism both in neurotypical human brains and in the context of complex neuropsychiatric disorders.

Indexed as

MosaicismBrainCell DivisionDNA DamageDNA Mutational AnalysisDNA RepairDNA ReplicationGenome, HumanGerm CellsHumansMental DisordersNerve NetNervous System DiseasesNeural Stem CellsNeurons

Identifiers

PMID28450582
PMCPMC5558435
OpenAlexW2609808058

What OpenQuestion 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 OpenQuestion graph.