ArticleNature neuroscience2017
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Registry-linked trialOpen access · greenAbstract read
In one paragraph
Article in Nature neuroscience, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06662591 (A Multi-Center Multi-Omics Approach for Investigating Genetic and Epigenetic Mechanisms in Autism Spectrum Disorder), which is not on this map. Cited by 466 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
466citing papers in PubMed, 1 pooled it
54.7field-weighted citation impact, top 1% of its field
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.
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.
A Multi-Center Multi-Omics Approach for Investigating Genetic and Epigenetic Mechanisms in Autism Spectrum Disorder
Who cites it
466 citing papers in PubMed, 1 synthesis or guideline pooled it, 926 citations in OpenAlex.
- Communicative Development Inventories (CDIs) in etiologically diverse developmental conditions: A systematic review.Research in developmental disabilities · 2026Pooled it
- Evidence supporting the role of GIGYF2 in synapse development and autism.Molecular psychiatry · 2026Article
- Characterizing features of the genetic architecture underlying autism from a multi-ancestry perspective.Molecular psychiatry · 2026Article
- Vitamin BNature communications · 2026Article
- Loss-of-function variants in MARK2 cause neurodevelopmental disorder.HGG advances · 2026Article
- Article
- Article
- Decomposing the genetic risk of autism spectrum disorder into discrete molecular subtypes underlie clinical heterogeneity based on transcriptome profile.Journal of translational medicine · 2026Article
- Translating transcriptomics analysis into diagnostic workflows: clinical variant identification and interpretation in hypothesis-driven and hypothesis-free approaches.EBioMedicine · 2026Article
- A Novel Variant of theGenes · 2026Article
- MuRaL-indel: a deep learning framework for building insertion and deletion mutation rate maps.Briefings in bioinformatics · 2026Article
- FABP7 controls radial glial scaffold stability during human cortical development.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Time-Dependent Risk of Psychiatric Disorders in Pediatric and Adolescent Patients with Microtia: A Nationwide Population-Based Cohort Study.Journal of clinical medicine · 2026Article
- Targeting notch signaling to restore neural development and behavior in mouse models of ASD.Nature communications · 2026Article
- A novel phenotype-guided genome analysis pipeline for variant discovery.NPJ genomic medicine · 2026Article
- Article
- Recurrent and Non-Recurrent Copy Number Variants in Native Americans and a Cosmopolitan Sample in Relation to Alcohol Use Disorder and Other Psychiatric Diseases.Molecular neurobiology · 2026Article
- Co-occurrence of rare variants implicates gene pairs in cytoskeletal pathways and is associated with increased severity in autism spectrum disorder.Genome biology · 2026Article
- Article
- Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye.Genes · 2026Article
406 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
83 authors at 20 institutions in 5 countries.
Ryan K C YuenThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.ORCID http://orcid.org/0000-0001-7273-4968
Daniele MericoThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Matt BookmanGoogle, Mountain View, California, USA.
Jennifer L HoweThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Bhooma ThiruvahindrapuramThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Rohan V PatelThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Joe WhitneyThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Nicole DeflauxGoogle, Mountain View, California, USA.
Jonathan BinghamGoogle, Mountain View, California, USA.
Zhuozhi WangThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Giovanna PellecchiaThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Janet A BuchananThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Susan WalkerThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Christian R MarshallThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Mohammed UddinThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Mehdi ZarreiThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Eric DeneaultThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Lia D'AbateThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Ada J S ChanThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Stephanie KoyanagiThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Tara PatonThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Sergio L PereiraThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Ny HoangThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Worrawat EngchuanThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Edward J HigginbothamThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Karen HoThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Sylvia LamoureuxThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Weili LiThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Jeffrey R MacDonaldThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.ORCID http://orcid.org/0000-0001-5058-2393
Thomas NalpathamkalamThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Wilson W L SungThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Fiona J TsoiThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
John WeiThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Lizhen XuThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Anne-Marie TassePublic Population Project in Genomics and Society, McGill University, Montreal, Canada.
Emily KirbyPublic Population Project in Genomics and Society, McGill University, Montreal, Canada.
William Van EttenBioTeam Inc., Middleton, Massachusetts, USA.
Simon TwiggerBioTeam Inc., Middleton, Massachusetts, USA.
Wendy RobertsAutism Research Unit, The Hospital for Sick Children, Toronto, Canada.
Irene DrmicThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Sanne JilderdaThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Bonnie MacKinnon ModiThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Barbara KellamThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Michael SzegoThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Cheryl CytrynbaumDepartment of Molecular Genetics, University of Toronto, Toronto, Canada.
Rosanna WeksbergDepartment of Molecular Genetics, University of Toronto, Toronto, Canada.
Lonnie ZwaigenbaumDepartment of Pediatrics, University of Alberta, Edmonton, Canada.
Marc Woodbury-SmithThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Jessica BrianBloorview Research Institute, University of Toronto, Toronto, Canada. .
Lili SenmanBloorview Research Institute, University of Toronto, Toronto, Canada. .
Alana IaboniBloorview Research Institute, University of Toronto, Toronto, Canada. .
Krissy Doyle-ThomasBloorview Research Institute, University of Toronto, Toronto, Canada. .
Ann ThompsonDepartment of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Canada.
Christina ChryslerDepartment of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Canada.
Jonathan LeefBloorview Research Institute, University of Toronto, Toronto, Canada. .
Tal Savion-LemieuxDepartment of Psychiatry, McGill University, Montreal, Canada.
Isabel M SmithDepartments of Pediatrics and of Psychology &Neuroscience, Dalhousie University and Autism Research Centre, IWK Health Centre, Halifax, Canada.
Xudong LiuDepartment of Psychiatry, Queen's University, Kinston, Canada.
Rob NicolsonChildren's Health Research Institute, London, Ontario, Canada.
Vicki SeiferAutism Speaks, New York, New York, USA.
Angie FedeleAutism Speaks, New York, New York, USA.
Edwin H CookInstitute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago, Illinois, USA.ORCID http://orcid.org/0000-0002-5848-5114
Stephen DagerDepartment of Radiology, University of Washington, Seattle, Washington, USA.
Annette EstesDepartment of Speech and Hearing Sciences, University of Washington, Seattle, Washington, USA.
Louise GallagherDepartment of Psychiatry, School of Medicine, Trinity College Dublin, Dublin, Ireland.
Beth A MalowSleep Disorders Division, Department of Neurology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Jeremy R ParrInstitute of Neuroscience, Newcastle University, Newcastle Upon Tyne, UK.
Sarah J SpenceDepartment of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Jacob VorstmanDepartment of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
Brendan J FreyDeep Genomics Inc., Toronto, Canada.
James T RobinsonDepartment of Medicine, University of California San Diego, La Jolla, California, USA.
Lisa J StrugThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Bridget A FernandezDisciplines of Genetics and Medicine, Memorial University of Newfoundland and Provincial Medical Genetic Program, Eastern Health, St. John's, Canada.
Mayada ElsabbaghDepartment of Psychiatry, McGill University, Montreal, Canada.
Melissa T CarterDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada.
Joachim HallmayerDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California, USA.
Bartha M KnoppersCentre of Genomics and Policy, McGill University, Montreal, Canada.
Evdokia AnagnostouBloorview Research Institute, University of Toronto, Toronto, Canada. .
Peter SzatmariChild Youth and Family Services, Centre for Addiction and Mental Health, Toronto, Canada.
Robert H RingDepartment of Pharmacology &Physiology, Drexel University College of Medicine, Philadelphia, Pennsylvania, USA.ORCID http://orcid.org/0000-0002-7037-4409
David GlazerGoogle, Mountain View, California, USA.ORCID http://orcid.org/0000-0002-6407-8646
Mathew T PletcherAutism Speaks, New York, New York, USA.
Stephen W SchererThe Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Hospital for Sick Children · CAUniversity of Toronto · CAMcGill University · CAGoogle (United States) · USAutism Speaks · USMcMaster University · CAUniversity of Washington · USBoston Children's Hospital · USCentre for Addiction and Mental Health · CAChildren's Hospital of Eastern Ontario · CADalhousie University · CADrexel University · USMemorial University of Newfoundland · CANewcastle University · GBQueen's University · CAStanford University · USTrinity College Dublin · IEUniversity Medical Center Utrecht · NLUniversity of Alberta · CAUniversity of California San Diego · US
Funding
Research Project: Sensory and Multisensory Contributions to AutismU54HD083211 · NICHD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI CUTTING, LAURIE E · 2015 to 2019
$7.1MThe Integrative Genomics Viewer (IGV): visualization supporting cancer researchU24CA210004 · NCI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI MESIROV, JILL P., ROBINSON, JAMES THOMAS · 2016 to 2020
$3.8MCIHR 125818-1CIHR 129338-1CIHR 140849-1CIHR 143295-1NCI NIH HHS U24 CA210004NICHD NIH HHS U54 HD083211
Abstract
We are performing whole-genome sequencing of families with autism spectrum disorder (ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying genetic factors involved. Here we report sequencing of 5,205 samples from families with ASD, accompanied by clinical information, creating a database accessible on a cloud platform and through a controlled-access internet portal. We found an average of 73.8 de novo single nucleotide variants and 12.6 de novo insertions and deletions or copy number variations per ASD subject. We identified 18 new candidate ASD-risk genes and found that participants bearing mutations in susceptibility genes had significantly lower adaptive ability (P = 6 × 10
Indexed as
Databases, GeneticAutism Spectrum DisorderChromosome AberrationsDNA Copy Number VariationsGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMutagenesis, InsertionalPhenotypePolymorphism, Single NucleotideSequence Deletion
Identifiers
What Socratic holds
Textmetadata
LicenceTDM
Read underepoch 390
Registered trials
NCT06662591ClinicalTrials.gov
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.