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Integrative analysis of rare variants and pathway information shows convergent results between immune pathways, drug targets and epilepsy 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/10.1001/jamaneurol.2016.0449openalex-snapshot

Molecular Pathogenic Basis forGABRG2Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome

inferredcites →https://doi.org/10.1002/(sici)1098-2272(1998)15:1<33::aid-gepi3>3.0.co;2-5openalex-snapshot

Univariate genetic analyses of epilepsy and seizures in a population-based twin study: The Virginia twin registry

inferredcites →https://doi.org/10.1007/0-387-22732-6_1openalex-snapshot

The Origins of Local Regression

inferredcites →https://doi.org/10.1016/b978-0-444-52891-9.00059-2openalex-snapshot

Genetics of idiopathic epilepsies

inferredcites →https://doi.org/10.1016/bs.apcsb.2017.01.005openalex-snapshot

Inflammation in Epileptic Encephalopathies

inferredcites →https://doi.org/10.1016/j.ajhg.2010.07.007openalex-snapshot

Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome

inferredcites →https://doi.org/10.1016/j.ajhg.2014.08.013openalex-snapshot

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

inferredcites →https://doi.org/10.1016/j.ajhg.2015.10.011openalex-snapshot

Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia

inferredcites →https://doi.org/10.1016/j.ajhg.2016.03.016openalex-snapshot

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

inferredcites →https://doi.org/10.1016/j.ajhg.2017.01.031openalex-snapshot

Integrating Gene Expression with Summary Association Statistics to Identify Genes Associated with 30 Complex Traits

inferredcites →https://doi.org/10.1016/j.ajhg.2017.08.013openalex-snapshot

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

inferredcites →https://doi.org/10.1016/j.ajhg.2017.09.008openalex-snapshot

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

inferredcites →https://doi.org/10.1016/j.jns.2017.02.065openalex-snapshot

Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia

inferredcites →https://doi.org/10.1016/j.molmed.2009.07.003openalex-snapshot

Making sense of nonsense GABAA receptor mutations associated with genetic epilepsies

inferredcites →https://doi.org/10.1016/j.neuron.2015.03.042openalex-snapshot

The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders

inferredcites →https://doi.org/10.1016/s1474-4422(15)00199-4openalex-snapshot

A roadmap for precision medicine in the epilepsies

inferredcites →https://doi.org/10.1016/s1474-4422(16)30359-3openalex-snapshot

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

inferredcites →https://doi.org/10.1016/s2215-0366(15)00553-2openalex-snapshot

Polygenic overlap between schizophrenia risk and antipsychotic response: a genomic medicine approach

inferredcites →https://doi.org/10.1038/ejhg.2017.55openalex-snapshot

Gene-set analysis shows association between FMRP targets and autism spectrum disorder

inferredcites →https://doi.org/10.1038/nature08506openalex-snapshot

Predicting new molecular targets for known drugs

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/nature12439openalex-snapshot

De novo mutations in epileptic encephalopathies

inferredcites →https://doi.org/10.1038/nature12929openalex-snapshot

De novo mutations in schizophrenia implicate synaptic networks

inferredcites →https://doi.org/10.1038/nature12975openalex-snapshot

A polygenic burden of rare disruptive mutations in schizophrenia

inferredcites →https://doi.org/10.1038/nature13185openalex-snapshot

Transcriptional landscape of the prenatal human brain

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/nature14135openalex-snapshot

Large-scale discovery of novel genetic causes of developmental disorders

inferredcites →https://doi.org/10.1038/nature21062openalex-snapshot

Prevalence and architecture of de novo mutations in developmental disorders

inferredcites →https://doi.org/10.1038/nbt1295openalex-snapshot

A human phenome-interactome network of protein complexes implicated in genetic disorders

inferredcites →https://doi.org/10.1038/ng.3050openalex-snapshot

A framework for the interpretation of de novo mutation in human disease

inferredcites →https://doi.org/10.1038/ng.3367openalex-snapshot

A gene-based association method for mapping traits using reference transcriptome data

inferredcites →https://doi.org/10.1038/ng.3903openalex-snapshot

The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability

inferredcites →https://doi.org/10.1038/nn.2719openalex-snapshot

Characterization of the proteome, diseases and evolution of the human postsynaptic density

inferredcites →https://doi.org/10.1038/nn.4352openalex-snapshot

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

inferredcites →https://doi.org/10.1038/nn.4402openalex-snapshot

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

inferredcites →https://doi.org/10.1038/nrd4126openalex-snapshot

New avenues for anti-epileptic drug discovery and development

inferredcites →https://doi.org/10.1038/s41422-018-0053-3openalex-snapshot

Spatial transcriptomic survey of human embryonic cerebral cortex by single-cell RNA-seq analysis

inferredcites →https://doi.org/10.1038/s41467-018-06805-xopenalex-snapshot

Large-scale genome-wide enrichment analyses identify new trait-associated genes and pathways across 31 human phenotypes

inferredcites →https://doi.org/10.1038/s41588-018-0129-5openalex-snapshot

Genetic identification of brain cell types underlying schizophrenia

inferredcites →https://doi.org/10.1038/s41592-018-0039-6openalex-snapshot

GeNets: a unified web platform for network-based genomic analyses

inferredcites →https://doi.org/10.1073/pnas.0506580102openalex-snapshot

Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles

inferredcites →https://doi.org/10.1083/jcb.201308026openalex-snapshot

Munc18-1 redistributes in nerve terminals in an activity- and PKC-dependent manner

inferredcites →https://doi.org/10.1093/bioinformatics/btr260openalex-snapshot

Molecular signatures database (MSigDB) 3.0

inferredcites →https://doi.org/10.1093/brain/awu206openalex-snapshot

Describing the genetic architecture of epilepsy through heritability analysis

inferredcites →https://doi.org/10.1093/brain/awv057openalex-snapshot

PMPCAmutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

inferredcites →https://doi.org/10.1093/brain/awy046openalex-snapshot

Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy

inferredcites →https://doi.org/10.1093/nar/gkt1068openalex-snapshot

DrugBank 4.0: shedding new light on drug metabolism

inferredcites →https://doi.org/10.1093/nar/gku1179openalex-snapshot

Gene Ontology Consortium: going forward

inferredcites →https://doi.org/10.1093/nar/gku1205openalex-snapshot

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

inferredcites →https://doi.org/10.1093/nar/gku463openalex-snapshot

ChIP-Enrich: gene set enrichment testing for ChIP-seq data

inferredcites →https://doi.org/10.1093/nar/gkw865openalex-snapshot

denovo-db: a compendium of humande novovariants

inferredcites →https://doi.org/10.1093/nar/gkw937openalex-snapshot

The STRING database in 2017: quality-controlled protein–protein association networks, made broadly accessible

inferredcites →https://doi.org/10.1093/nar/gkw971openalex-snapshot

The ExAC browser: displaying reference data information from over 60 000 exomes

inferredcites →https://doi.org/10.1101/222596openalex-snapshot

Gene expression imputation across multiple brain regions reveals schizophrenia risk throughout development

inferredcites →https://doi.org/10.1101/222786openalex-snapshot

Transcriptomic Imputation of Bipolar Disorder and Bipolar subtypes reveals 29 novel associated genes

inferredcites →https://doi.org/10.1111/j.2517-6161.1995.tb02031.xopenalex-snapshot

Controlling the False Discovery Rate: A Practical and Powerful Approach to Multiple Testing

inferredcites →https://doi.org/10.1126/science.1262110openalex-snapshot

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

inferredcites →https://doi.org/10.1126/science.aac9396openalex-snapshot

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

inferredcites →https://doi.org/10.1126/science.aad7038openalex-snapshot

Div-Seq: Single-nucleus RNA-Seq reveals dynamics of rare adult newborn neurons

inferredcites →https://doi.org/10.1126/science.aaf1204openalex-snapshot

Neuronal subtypes and diversity revealed by single-nucleus RNA sequencing of the human brain

inferredcites →https://doi.org/10.1186/s12974-018-1192-7openalex-snapshot

The role of inflammation in the development of epilepsy

inferredcites →https://doi.org/10.1186/s13073-017-0497-yopenalex-snapshot

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

inferredcites →https://doi.org/10.1212/nxg.0000000000000183openalex-snapshot

Ataxia-pancytopenia syndrome with SAMD9L mutations

inferredcites →https://doi.org/10.1371/journal.pgen.1003671openalex-snapshot

Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes

inferredcites →https://doi.org/10.1371/journal.pgen.1003770openalex-snapshot

Integrated Enrichment Analysis of Variants and Pathways in Genome-Wide Association Studies Indicates Central Role for IL-2 Signaling Genes in Type 1 Diabetes, and Cytokine Signaling Genes in Crohn's Disease

inferredcites →https://doi.org/10.1371/journal.pgen.1006690openalex-snapshot

Cis-eQTL-based trans-ethnic meta-analysis reveals novel genes associated with breast cancer risk

inferredcites →https://doi.org/10.1371/journal.pgen.1006836openalex-snapshot

Joint modeling of genetically correlated diseases and functional annotations increases accuracy of polygenic risk prediction

inferredcites →https://doi.org/10.1371/journal.pgen.1007104openalex-snapshot

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations

inferredcites →https://doi.org/10.18637/jss.v020.i07openalex-snapshot

Modeling of Responses and Response Times with the Packagecirt

inferredcites →https://doi.org/10.18637/jss.v076.i01openalex-snapshot

Stan : A Probabilistic Programming Language

inferredcites →https://doi.org/10.32614/rj-2016-021openalex-snapshot

mclust 5: Clustering, Classification and Density Estimation Using Gaussian Finite Mixture Models

inferredcites →https://doi.org/10.3349/ymj.2008.49.1.1openalex-snapshot

Role of Brain Inflammation in Epileptogenesis

inferredcites →https://doi.org/10.4161/fly.19695openalex-snapshot

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

inferredcites →https://doi.org/10.5698/1535-7597-13.2.62openalex-snapshot

Epilepsy Associated with Systemic Autoimmune Disorders

What points at this work

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

inferred← citeshttps://doi.org/10.1038/s41588-023-01305-1openalex-snapshot

Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations

inferred← citeshttps://doi.org/10.1371/journal.pgen.1010252openalex-snapshot

Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease

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