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Multi-hit autism genomic architecture evidenced from consanguineous families with involvement of FEZF2 and mutations in high-risk genes

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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1016/j.ajhg.2013.06.004openalex-snapshot
Intellectual Disability Is Associated with Increased Runs of Homozygosity in Simplex Autism
inferredcites →https://doi.org/10.1016/j.ajhg.2014.03.018openalex-snapshot
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
inferredcites →https://doi.org/10.1016/j.ajhg.2016.06.036openalex-snapshot
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families
inferredcites →https://doi.org/10.1016/j.biopsych.2017.01.009openalex-snapshot
Opposing Effects on Na V 1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures
inferredcites →https://doi.org/10.1016/j.cell.2013.10.020openalex-snapshot
Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism
inferredcites →https://doi.org/10.1016/j.cell.2018.06.016openalex-snapshot
The Psychiatric Cell Map Initiative: A Convergent Systems Biological Approach to Illuminating Key Molecular Pathways in Neuropsychiatric Disorders
inferredcites →https://doi.org/10.1016/j.cell.2019.05.031openalex-snapshot
Comprehensive Integration of Single-Cell Data
inferredcites →https://doi.org/10.1016/j.celrep.2017.01.073openalex-snapshot
Complete Disruption of the Kainate Receptor Gene Family Results in Corticostriatal Dysfunction in Mice
inferredcites →https://doi.org/10.1016/j.cub.2015.05.048openalex-snapshot
A Mechanistic Link between Olfaction and Autism Spectrum Disorder
inferredcites →https://doi.org/10.1016/j.neuron.2005.08.030openalex-snapshot
Fezl Is Required for the Birth and Specification of Corticospinal Motor Neurons
inferredcites →https://doi.org/10.1016/j.neuron.2012.06.012openalex-snapshot
The Presynaptic Active Zone
inferredcites →https://doi.org/10.1016/j.neuron.2015.07.033openalex-snapshot
Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders
inferredcites →https://doi.org/10.1016/j.neuron.2015.09.016openalex-snapshot
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
inferredcites →https://doi.org/10.1016/j.neuron.2018.09.027openalex-snapshot
Neonatal Tbr1 Dosage Controls Cortical Layer 6 Connectivity
inferredcites →https://doi.org/10.1016/j.neuron.2018.09.040openalex-snapshot
Towards an Understanding of Synapse Formation
inferredcites →https://doi.org/10.1016/j.neuron.2018.10.007openalex-snapshot
Building Models of Brain Disorders with Three-Dimensional Organoids
inferredcites →https://doi.org/10.1016/j.neuron.2018.10.015openalex-snapshot
Lost in Translation: Traversing the Complex Path from Genomics to Therapeutics in Autism Spectrum Disorder
inferredcites →https://doi.org/10.1016/j.neuron.2019.05.037openalex-snapshot
The Autism-Associated Gene Scn2a Contributes to Dendritic Excitability and Synaptic Function in the Prefrontal Cortex
inferredcites →https://doi.org/10.1016/j.stem.2019.03.012openalex-snapshot
Hominoid-Specific Transposable Elements and KZFPs Facilitate Human Embryonic Genome Activation and Control Transcription in Naive Human ESCs
inferredcites →https://doi.org/10.1016/s0140-6736(18)31129-2openalex-snapshot
Autism spectrum disorder
inferredcites →https://doi.org/10.1016/s0896-6273(00)80702-3openalex-snapshot
Slit2-Mediated Chemorepulsion and Collapse of Developing Forebrain Axons
inferredcites →https://doi.org/10.1038/mp.2016.113openalex-snapshot
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield
inferredcites →https://doi.org/10.1038/nature07999openalex-snapshot
Common genetic variants on 5p14.1 associate with autism spectrum disorders
inferredcites →https://doi.org/10.1038/nature10945openalex-snapshot
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
inferredcites →https://doi.org/10.1038/nature11094openalex-snapshot
Cis-regulatory control of corticospinal system development and evolution
inferredcites →https://doi.org/10.1038/nature13394openalex-snapshot
Genome sequencing identifies major causes of severe intellectual disability
inferredcites →https://doi.org/10.1038/nature13772openalex-snapshot
Synaptic, transcriptional and chromatin genes disrupted in autism
inferredcites →https://doi.org/10.1038/nature13908openalex-snapshot
The contribution of de novo coding mutations to autism spectrum disorder
inferredcites →https://doi.org/10.1038/nature19357openalex-snapshot
CHD8 haploinsufficiency results in autistic-like phenotypes in mice
inferredcites →https://doi.org/10.1038/nature25980openalex-snapshot
A single-cell RNA-seq survey of the developmental landscape of the human prefrontal cortex
inferredcites →https://doi.org/10.1038/nbt.4038openalex-snapshot
Integrative single-cell analysis of transcriptional and epigenetic states in the human adult brain
inferredcites →https://doi.org/10.1038/ng.2980openalex-snapshot
Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder
inferredcites →https://doi.org/10.1038/nm.3935openalex-snapshot
Modeling psychiatric disorders for developing effective treatments
inferredcites →https://doi.org/10.1038/nmeth.2997openalex-snapshot
Annotation of loci from genome-wide association studies using tissue-specific quantitative interaction proteomics
inferredcites →https://doi.org/10.1038/nmeth0410-248openalex-snapshot
A method and server for predicting damaging missense mutations
inferredcites →https://doi.org/10.1038/nn.4548openalex-snapshot
Comprehensive transcriptome analysis of neocortical layers in humans, chimpanzees and macaques
inferredcites →https://doi.org/10.1038/nn.4592openalex-snapshot
Germline Chd8 haploinsufficiency alters brain development in mouse
inferredcites →https://doi.org/10.1038/nrg.2017.4openalex-snapshot
Autism genetics: opportunities and challenges for clinical translation
inferredcites →https://doi.org/10.1038/s41525-019-0093-8openalex-snapshot
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
inferredcites →https://doi.org/10.1038/s41592-018-0255-0openalex-snapshot
Reliability of human cortical organoid generation
inferredcites →https://doi.org/10.1038/s41593-017-0024-xopenalex-snapshot
Altered responses to social chemosignals in autism spectrum disorder
inferredcites →https://doi.org/10.1038/s41593-018-0163-8openalex-snapshot
Altered hippocampal replay is associated with memory impairment in mice heterozygous for the Scn2a gene
inferredcites →https://doi.org/10.1038/s41593-018-0266-2openalex-snapshot
Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition
inferredcites →https://doi.org/10.1038/srep19088openalex-snapshot
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism
inferredcites →https://doi.org/10.1073/pnas.0508732102openalex-snapshot
Fezl regulates the differentiation and axon targeting of layer 5 subcortical projection neurons in cerebral cortex
inferredcites →https://doi.org/10.1073/pnas.0509032102openalex-snapshot
Zfp312 is required for subcortical axonal projections and dendritic morphology of deep-layer pyramidal neurons of the cerebral cortex
inferredcites →https://doi.org/10.1073/pnas.1016723108openalex-snapshot
TBR1 directly represses Fezf2 to control the laminar origin and development of the corticospinal tract
inferredcites →https://doi.org/10.1073/pnas.1216793109openalex-snapshot
A network of genetic repression and derepression specifies projection fates in the developing neocortex
inferredcites →https://doi.org/10.1093/hmg/ddq081openalex-snapshot
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans
inferredcites →https://doi.org/10.1093/nar/gkx046openalex-snapshot
BrainScope: interactive visual exploration of the spatial and temporal human brain transcriptome
inferredcites →https://doi.org/10.1093/nar/gkx356openalex-snapshot
WebGestalt 2017: a more comprehensive, powerful, flexible and interactive gene set enrichment analysis toolkit
inferredcites →https://doi.org/10.1093/oxfordjournals.molbev.a026036openalex-snapshot
Median-joining networks for inferring intraspecific phylogenies
inferredcites →https://doi.org/10.1126/science.1138659openalex-snapshot
Strong Association of De Novo Copy Number Mutations with Autism
inferredcites →https://doi.org/10.1126/science.1157657openalex-snapshot
Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry
inferredcites →https://doi.org/10.1126/science.1232380openalex-snapshot
Optogenetic Stimulation of Lateral Orbitofronto-Striatal Pathway Suppresses Compulsive Behaviors
inferredcites →https://doi.org/10.1126/science.aan2261openalex-snapshot
Paternally inherited cis-regulatory structural variants are associated with autism
inferredcites →https://doi.org/10.1126/science.aan3721openalex-snapshot
Control of species-dependent cortico-motoneuronal connections underlying manual dexterity
inferredcites →https://doi.org/10.1126/science.aat7615openalex-snapshot
Integrative functional genomic analysis of human brain development and neuropsychiatric risks
inferredcites →https://doi.org/10.1146/annurev-cellbio-100616-060701openalex-snapshot
Writing, Reading, and Translating the Clustered Protocadherin Cell Surface Recognition Code for Neural Circuit Assembly
inferredcites →https://doi.org/10.1146/annurev-genom-083115-022647openalex-snapshot
The Yin and Yang of Autism Genetics: How Rare De Novo and Common Variations Affect Liability
inferredcites →https://doi.org/10.1146/annurev-publhealth-031816-044318openalex-snapshot
The Changing Epidemiology of Autism Spectrum Disorders
inferredcites →https://doi.org/10.1242/dev.090621openalex-snapshot
Clustered protocadherins
inferredcites →https://doi.org/10.1371/journal.pgen.1001273openalex-snapshot
Proteins Encoded in Genomic Regions Associated with Immune-Mediated Disease Physically Interact and Suggest Underlying Biology
inferredcites →https://doi.org/10.1371/journal.pgen.1004580openalex-snapshot
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
inferredcites →https://doi.org/10.1523/jneurosci.4131-10.2011openalex-snapshot
Tbr1 and Fezf2 Regulate Alternate Corticofugal Neuronal Identities during Neocortical Development
inferredcites →https://doi.org/10.3389/fcell.2016.00009openalex-snapshot
Reciprocal Interactions between Cell Adhesion Molecules of the Immunoglobulin Superfamily and the Cytoskeleton in Neurons

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.1038/s41598-024-60376-0openalex-snapshot
Body mass index is an overlooked confounding factor in existing clustering studies of 3D facial scans of children with autism spectrum disorder
inferred← citeshttps://doi.org/10.3389/fgene.2024.1431093openalex-snapshot
Genetic etiology of autism spectrum disorder in the African population: a scoping review
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