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Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Cell(2020)10.1016/j.cell.2019.12.036Source: DataRank Database

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism is a research paper published in Cell (2020). On theSindex it has a DataRank of 9.5. It has been cited 2,470 times, with 200 citing works in its 1-hop citation network.

N/A

9.5DataRank · unranked

Scored on demand from live citation data

Open Access2,470 citations · 200 citing works in its network

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Linked data & code

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DataRank reads this dataset's downstream impact straight off the citation graph — no black box, no proprietary weighting. How is this computed?

›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (45 grants)Impact (FWCI 148.71)OA: bronzeTopics (132)IDs (PubMed, PMC, OpenAlex)Annotations (3)SDGs (2)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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DataRank Breakdown

Base Score 12%Citation Network 88%

Base Score Contribution

1.2

From this paper's citation signal

Citation Network Contribution

8.4

From 200 citing papers with measurable signal

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Top 5 citers driving the network score

Ranked by each citer's contribution to N(p) — log1p(C_q) divided by its reference count — out of 200 citers.

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Single-cell analysis of prenatal and postnatal human cortical development
Science2023189 citations37 referencesContributes 0.142
In vivo Perturb-Seq reveals neuronal and glial abnormalities associated with autism risk genes
Science2020331 citations53 referencesContributes 0.110

Authors (100)

Jack A. Kosmicki,Jiebiao Wang ORCID,Michael S. Breen ORCID,Silvia De Rubeis ORCID,Joon‐Yong An ORCID

Live enrichment

PubMed:31981491 PMC:PMC7250485 OpenAlex:https://openalex.org/W2955503846

National Science Foundation

Grant: GRFP 2017240332

National Institute of Mental Health

Grant: MH111660

National Institute of Mental Health

Grant: MH115957

NIMH NIH HHS

Grant: R01 MH109900

Lundbeck Foundation

Grant: R248-2017-2003

NIMH NIH HHS

Grant: R56 MH115957

NHGRI NIH HHS

Grant: UM1 HG008895

National Human Genome Research Institute

Grant: HG002295

Japan Agency for Medical Research and Development

Grant: JP19dm0107087

National Institute of Mental Health

Grant: MH100233-03S1

Novo Nordisk Fonden

Grant: NNF16OC0022018

NIMH NIH HHS

Grant: R01 MH095797

Lundbeck Foundation

Grant: R155-2014-1724

NIMH NIH HHS

Grant: U01 MH100233

NIMH NIH HHS

Grant: U01 MH111658

National Institute of Mental Health

Grant: MH057881

NIMH NIH HHS

Grant: R01 MH057881

Simons Foundation Autism Research Initiative

Grant: SF402281

NIMH NIH HHS

Grant: U01 MH111661

National Institute of Mental Health

Grant: MH111661

National Institute of Mental Health

Grant: MH111662

NHGRI NIH HHS

Grant: T32 HG002295

NIMH NIH HHS

Grant: U01 MH111660

NIMH NIH HHS

Grant: U01 MH111662

NIEHS NIH HHS

Grant: R24 ES028533

Simons Foundation Autism Research Initiative

Grant: SF573206

National Human Genome Research Institute

Grant: HG008895

National Institute of Mental Health

Grant: MH111658

NIMH NIH HHS

Grant: R01 MH113362

Lundbeck Foundation

Grant: R302-2018-2155

NIMH NIH HHS

Grant: R01 MH106910

NIMH NIH HHS

Grant: R01 MH097849

NIMH NIH HHS

Grant: R01 MH110928

NIMH NIH HHS

Grant: R01 MH115957

NIMH NIH HHS

Grant: R37 MH057881

Wellcome Trust

Grant: unidentified

unidentified

National Institutes of Health

Grant: 5R01MH057881-08

Genetic association in schizophrenia and other disorders

National Institutes of Health

Grant: 5R01MH109900-02

2/3 Multidimensional investigation of the etiology of autism spectrum disorder

National Institutes of Health

Grant: 5U01MH111658-04

3/4 - The Autism Sequencing Consortium: Autism Gene Discovery in >50,000 Exomes

National Institutes of Health

Grant: 5UM1HG008895-04

Center for Common Disease Genetics

Biogen

National Institutes of Health

Beatrice and Samuel A. Seaver Foundation

Simons Foundation

Autism Science Foundation

FWCI

148.71

Citation Percentile

1.0%

Citation Trend

2014

2018

2019

2020

2021

2022

2023

2024

2025

2026

bronzeLicense: Elsevier Non-Commercial

journalhttp://www.cell.com/article/S0092867419313984/pdf

publisherhttp://www.cell.com/article/S0092867419313984/pdf

journalhttps://doi.org/10.1016/j.cell.2019.12.036

repositoryhttps://pubmed.ncbi.nlm.nih.gov/31981491

repositoryhttps://inserm.hal.science/inserm-03135343

Fields of Study

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersCongenital heart defects research0303 health sciences03 medical and health sciences0301 basic medicine

MeSH Terms

Exome SequencingAutistic DisorderCerebral CortexFemaleGene FrequencyHumansMaleNeurobiologyNeuronsPhenotypeSex FactorsCohort StudiesCase-Control StudiesGene Expression Regulation, DevelopmentalCell LineageGenetic Predisposition to DiseaseMutation, MissenseSingle-Cell AnalysisExome

Keywords

BiologyExome sequencingAutismExomeNeuroscienceGeneticsComputational biologyEvolutionary biologyGeneMutationDevelopmental psychologyPsychologyCytoskeletonNeurodevelopmentCell typeLiabilityAutism Spectrum DisorderExcitatory-inhibitory BalanceInhibitory NeuronsExcitatory NeuronsMaleAutism Sequencing Consortium3102 Bioinformatics and Computational Biology (for-2020)11 Medical and Health Sciences (for)3105 Genetics (for-2020)Missense (mesh)NeurobiologyBrain Disorders (rcdc)31 Biological sciences (for-2020)inhibitory neuronAetiology32 Biomedical and Clinical Sciences (for-2020)Male (mesh)Genetic Predisposition to Disease (mesh)Cerebral CortexNeuronsautism spectrum disorder; cell type; cytoskeleton; excitatory neurons; excitatory-inhibitory balance; exome sequencing; genetics; inhibitory neurons; liability; neurodevelopmentExome (mesh)Single-Cell Analysis1.1 Normal biological development and functioningIntellectual and Developmental Disabilities (IDD)Bioinformatics and Computational Biology610Developmental (mesh)Clinical Researchexcitatory neuronHumansCell LineageAutistic Disorder1.1 Normal biological development and functioning (hrcs-rac)Genetics (rcdc)Neurological (hrcs-hc)autism spectrum disorder, cell type, cytoskeleton, excitatory neurons, excitatory-inhibitory balance, exome sequencing, genetics, inhibitory neurons, liability, neurodevelopmentHuman Genome (rcdc)Single-Cell Analysis (mesh)Case-Control StudiesgeneticDevelopmental BiologyCell Lineage (mesh)Neurobiology (mesh)[SDV.GEN] Life Sciences [q-bio]/GeneticsGene Frequency (mesh)Medical and Health SciencesCohort StudiesAutism Spectrum Disorder (ASD)Clinical Research (rcdc)Gene FrequencyAutism (rcdc)2.1 Biological and endogenous factorsIntellectual and Developmental Disabilities (IDD) (rcdc)DevelopmentalNeurosciences (rcdc)Developmental Biology (science-metrix)PediatricHumans (mesh)Cohort Studies (mesh)Gene Expression Regulation, DevelopmentalBiological SciencesPhenotype (mesh)06 Biological Sciences (for)Mental HealthPhenotypeNeurologicalFemaleBiotechnologyMental Health (rcdc)iPSYCH-Broad ConsortiumMutation, MissenseBiotechnology (rcdc)Exome Sequencing (mesh)Case-Control Studies (mesh)Sex FactorsGenetic Predisposition to DiseasePediatric (rcdc)Autistic Disorder (mesh)Neurons (mesh)Biomedical and Clinical SciencesHuman GenomeNeurosciences2.1 Biological and endogenous factors (hrcs-rac)Brain DisordersMental health (hrcs-hc)Gene Expression RegulationFemale (mesh)Cerebral Cortex (mesh)Sex Factors (mesh)Missense

Sustainable Development Goals

SDG 3: 3. Good healthSDG 0: Good health and well-being