Evidence map›Paper›PMID 31398340›Full record

ArticleCell2019

Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.

Elizabeth K Ruzzo, Laura Pérez-Cano, Jae-Yoon Jung, Lee-Kai Wang, Dorna Kashef-Haghighi, Chris Hartl, Chanpreet Singh, Jin Xu, Jackson N Hoekstra, Olivia Leventhal and 9 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cell, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 282 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
282citing papers in PubMed, 4 pooled it
35.0field-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

282 citing papers in PubMed, 4 syntheses or guidelines pooled it, 487 citations in OpenAlex.

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  17. FABP7 controls radial glial scaffold stability during human cortical development.Proceedings of the National Academy of Sciences of the United States of America · 2026
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222 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

19 authors at 4 institutions in 1 country.

Elizabeth K RuzzoDepartment of Psychiatry and Biobehavioral Sciences, Semel Institue, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Laura Pérez-CanoDepartment of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Jae-Yoon JungDepartment of Pediatrics, Division of Systems Medicine, Stanford University, Stanford, CA, USA; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA.
Lee-Kai WangDepartment of Psychiatry and Biobehavioral Sciences, Semel Institue, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Dorna Kashef-HaghighiDepartment of Pediatrics, Division of Systems Medicine, Stanford University, Stanford, CA, USA; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA.
Chris HartlBioinformatics IDP, University of California, Los Angeles, Los Angeles, CA, USA.
Chanpreet SinghDivision of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA, USA.
Jin XuDivision of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA, USA.
Jackson N HoekstraDepartment of Psychiatry and Biobehavioral Sciences, Semel Institue, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Olivia LeventhalDepartment of Psychiatry and Biobehavioral Sciences, Semel Institue, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Virpi M LeppäDepartment of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Michael J GandalDepartment of Psychiatry and Biobehavioral Sciences, Semel Institue, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Kelley PaskovDepartment of Pediatrics, Division of Systems Medicine, Stanford University, Stanford, CA, USA; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA.
Nate StockhamDepartment of Pediatrics, Division of Systems Medicine, Stanford University, Stanford, CA, USA; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA.
Damon PolioudakisDepartment of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Jennifer K LoweDepartment of Psychiatry and Biobehavioral Sciences, Semel Institue, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
David A ProberDivision of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA, USA.
Daniel H GeschwindDepartment of Psychiatry and Biobehavioral Sciences, Semel Institue, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA; Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA. Electronic address: dhg@mednet.ucla.edu.
Dennis P WallDepartment of Pediatrics, Division of Systems Medicine, Stanford University, Stanford, CA, USA; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA. Electronic address: dpwall@stanford.edu.
Center for Autism and Related Disorders · USStanford University · USUniversity of California, Los Angeles · USCalifornia Institute of Technology · US

Funding

SUPPLEMENT TO RUSH ALZHEIMERS DISEASE CENTER COREP30AG010161 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BENNETT, DAVID ALAN · 1991 to 2020
$49.1M
EPIDEMIOLOGY OF NEURAL RESERVE AND NEUROBIOLOGY IN AGINGR01AG017917 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BENNETT, DAVID ALAN · 2001 to 2023
$43.3M
Multi-omic network-directed proteoform discovery, dissection and functional validation to prioritize novel AD therapeutic targetsU01AG061356 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BENNETT, DAVID ALAN, DE JAGER, PHILIP L · 2018 to 2022
$13.7M
Genomewide Search--Autism Susceptibility Loci-supplementR01MH064547 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2002 to 2006
$9.6M
Center for Genomic and Phenomic Studies in AutismU24MH081810 · NIMH · UNIVERSITY OF SOUTHERN CALIFORNIA · PI LAJONCHERE, CLARA M · 2007 to 2011
$8.3M
Neuropeptidergic Regulation of Zebrafish SleepR01NS070911 · NINDS · CALIFORNIA INSTITUTE OF TECHNOLOGY · PI PROBER, DAVID AARON · 2011 to 2020
$3.5M
Role of Prokineticin 2 in Regulating Sleep in ZebrafishR01NS095824 · NINDS · CALIFORNIA INSTITUTE OF TECHNOLOGY · PI PROBER, DAVID AARON · 2017 to 2021
$1.8M
Biomedical Data Science Graduate Training at StanfordT32LM012409 · NLM · STANFORD UNIVERSITY · PI PLEVRITIS, SYLVIA KATINA · 2016 to 2020
$1.5M
Regulation of Zebrafish Sleep by Neuromedin UR01NS101158 · NINDS · CALIFORNIA INSTITUTE OF TECHNOLOGY · PI PROBER, DAVID AARON · 2017 to 2020
$1.4M
Circadian Regulation of Zebrafish Sleep by MelatoninR01NS101665 · NINDS · CALIFORNIA INSTITUTE OF TECHNOLOGY · PI PROBER, DAVID AARON · 2017 to 2020
$1.4M
High Capacity Storage System for Computational BiologyS10OD011939 · OD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI WOODS, ROGER P · 2012 to 2012
$598k
NIA NIH HHS P30 AG010161NIA NIH HHS R01 AG017917NIA NIH HHS U01 AG061356NIH HHS S10 OD011939NIMH NIH HHS R01 MH064547NIMH NIH HHS U24 MH081810NINDS NIH HHS R01 NS070911NINDS NIH HHS R01 NS095824NINDS NIH HHS R01 NS101158NINDS NIH HHS R01 NS101665NLM NIH HHS T32 LM012409
6 · The paper itself

Abstract

We performed a comprehensive assessment of rare inherited variation in autism spectrum disorder (ASD) by analyzing whole-genome sequences of 2,308 individuals from families with multiple affected children. We implicate 69 genes in ASD risk, including 24 passing genome-wide Bonferroni correction and 16 new ASD risk genes, most supported by rare inherited variants, a substantial extension of previous findings. Biological pathways enriched for genes harboring inherited variants represent cytoskeletal organization and ion transport, which are distinct from pathways implicated in previous studies. Nevertheless, the de novo and inherited genes contribute to a common protein-protein interaction network. We also identified structural variants (SVs) affecting non-coding regions, implicating recurrent deletions in the promoters of DLG2 and NR3C2. Loss of nr3c2 function in zebrafish disrupts sleep and social function, overlapping with human ASD-related phenotypes. These data support the utility of studying multiplex families in ASD and are available through the Hartwell Autism Research and Technology portal.

Indexed as

PedigreeAnimalsAutism Spectrum DisorderChildDatabases, GeneticDisease Models, AnimalFemaleGene DeletionGenetic Predisposition to DiseaseGuanylate KinasesHumansInheritance PatternsMachine LearningMaleNuclear FamilyPromoter Regions, GeneticDLG2 protein, humanGuanylate KinasesNR3C2 protein, humanReceptors, MineralocorticoidTumor Suppressor ProteinsASDautismde novogeneticsinheritedmachine learningmultiplex families

Identifiers

PMID31398340
PMCPMC7102900
OpenAlexW2969167159

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.