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Neurodevelopmental disease genes implicated by de novo mutation and CNV morbidity

https://doi.org/10.1101/209908

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What this work says

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

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Interstitial microdeletion of 4p16.3: Contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf–Hirschhorn syndrome

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Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

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Potocki–Shaffer syndrome in a child without intellectual disability—The role of PHF21A in cognitive function

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Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome

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Deletions of NRXN1 (neurexin‐1) predispose to a wide spectrum of developmental disorders

inferredcites →https://doi.org/10.1002/humu.23203openalex-snapshot

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

inferredcites →https://doi.org/10.1002/mgg3.289openalex-snapshot

Haploinsufficiency of BCL 11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome

inferredcites →https://doi.org/10.1007/s00439-004-1187-6openalex-snapshot

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

inferredcites →https://doi.org/10.1007/s10048-013-0356-yopenalex-snapshot

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

inferredcites →https://doi.org/10.1016/j.ajhg.2013.03.021openalex-snapshot

ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity

inferredcites →https://doi.org/10.1016/j.ajhg.2015.11.023openalex-snapshot

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA

inferredcites →https://doi.org/10.1016/j.ajhg.2016.08.001openalex-snapshot

De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

inferredcites →https://doi.org/10.1016/j.ajhg.2017.02.005openalex-snapshot

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

inferredcites →https://doi.org/10.1016/j.ajhg.2017.07.004openalex-snapshot

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

inferredcites →https://doi.org/10.1016/j.ajhg.2017.08.004openalex-snapshot

Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes

inferredcites →https://doi.org/10.1016/j.biopsych.2013.08.013openalex-snapshot

Changes in the Development of Striatum Are Involved in Repetitive Behavior in Autism

inferredcites →https://doi.org/10.1016/j.cca.2017.04.025openalex-snapshot

Identification of a novel de novo nonsense mutation of the NSD1 gene in monozygotic twins discordant for Sotos syndrome

inferredcites →https://doi.org/10.1016/j.cell.2012.11.019openalex-snapshot

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

inferredcites →https://doi.org/10.1016/j.cell.2014.02.002openalex-snapshot

A Genotype-First Approach to Defining the Subtypes of a Complex Disease

inferredcites →https://doi.org/10.1016/j.cell.2014.06.017openalex-snapshot

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

inferredcites →https://doi.org/10.1016/j.cell.2017.08.047openalex-snapshot

Genomic Patterns of De Novo Mutation in Simplex Autism

inferredcites →https://doi.org/10.1016/j.celrep.2017.02.007openalex-snapshot

Varying Intolerance of Gene Pathways to Mutational Classes Explain Genetic Convergence across Neuropsychiatric Disorders

inferredcites →https://doi.org/10.1016/j.celrep.2017.03.052openalex-snapshot

Chd8 Mutation Leads to Autistic-like Behaviors and Impaired Striatal Circuits

inferredcites →https://doi.org/10.1016/j.ejmg.2017.04.001openalex-snapshot

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy

inferredcites →https://doi.org/10.1016/j.euroneuro.2017.08.010openalex-snapshot

LIMITED CONTRIBUTION OF RARE, NONCODING VARIATION TO AUTISM SPECTRUM DISORDER FROM SEQUENCING OF 2,076 GENOMES IN QUARTET FAMILIES

inferredcites →https://doi.org/10.1016/j.gde.2015.10.002openalex-snapshot

First glimpses of the neurobiology of autism spectrum disorder

inferredcites →https://doi.org/10.1016/j.neuroimage.2017.02.019openalex-snapshot

Connectivity-based parcellation reveals distinct cortico-striatal connectivity fingerprints in Autism Spectrum Disorder

inferredcites →https://doi.org/10.1016/j.neuron.2012.04.009openalex-snapshot

De Novo Gene Disruptions in Children on the Autistic Spectrum

inferredcites →https://doi.org/10.1016/j.ridd.2009.06.003openalex-snapshot

Intellectual disability and its relationship to autism spectrum disorders

inferredcites →https://doi.org/10.1016/s0140-6736(12)61480-9openalex-snapshot

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

inferredcites →https://doi.org/10.1038/13810openalex-snapshot

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

inferredcites →https://doi.org/10.1038/cdd.2015.22openalex-snapshot

XLS (c9orf142) is a new component of mammalian DNA double-stranded break repair

inferredcites →https://doi.org/10.1038/ejhg.2011.261openalex-snapshot

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

inferredcites →https://doi.org/10.1038/ejhg.2012.230openalex-snapshot

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

inferredcites →https://doi.org/10.1038/ejhg.2013.101openalex-snapshot

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

inferredcites →https://doi.org/10.1038/ejhg.2015.178openalex-snapshot

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

inferredcites →https://doi.org/10.1038/jhg.2015.141openalex-snapshot

Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder

inferredcites →https://doi.org/10.1038/mp.2017.60openalex-snapshot

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families

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/nature19057openalex-snapshot

Analysis of protein-coding genetic variation in 60,706 humans

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

Prevalence and architecture of de novo mutations in developmental disorders

inferredcites →https://doi.org/10.1038/ncomms13316openalex-snapshot

De novo genic mutations among a Chinese autism spectrum disorder cohort

inferredcites →https://doi.org/10.1038/ncomms6595openalex-snapshot

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

inferredcites →https://doi.org/10.1038/ng.2892openalex-snapshot

A general framework for estimating the relative pathogenicity of human genetic variants

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.3092openalex-snapshot

Refining analyses of copy number variation identifies specific genes associated with developmental delay

inferredcites →https://doi.org/10.1038/ng.3303openalex-snapshot

Excess of rare, inherited truncating mutations in autism

inferredcites →https://doi.org/10.1038/ng.3619openalex-snapshot

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

inferredcites →https://doi.org/10.1038/ng.3789openalex-snapshot

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

inferredcites →https://doi.org/10.1038/ng.3792openalex-snapshot

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

inferredcites →https://doi.org/10.1038/ng.677openalex-snapshot

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

inferredcites →https://doi.org/10.1038/ng.835openalex-snapshot

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

inferredcites →https://doi.org/10.1038/ng.868openalex-snapshot

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

inferredcites →https://doi.org/10.1038/ng.909openalex-snapshot

A copy number variation morbidity map of developmental delay

inferredcites →https://doi.org/10.1038/ng1562openalex-snapshot

Fine-scale structural variation of the human genome

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.4380openalex-snapshot

Foxp2 controls synaptic wiring of corticostriatal circuits and vocal communication by opposing Mef2c

inferredcites →https://doi.org/10.1038/nn.4524openalex-snapshot

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

inferredcites →https://doi.org/10.1038/nn.4589openalex-snapshot

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

inferredcites →https://doi.org/10.1038/npjgenmed.2016.27openalex-snapshot

Genome-wide characteristics of de novo mutations in autism

inferredcites →https://doi.org/10.1038/sj.mp.4001011openalex-snapshot

Association between a GABRB3 polymorphism and autism

inferredcites →https://doi.org/10.1038/srep44818openalex-snapshot

Suppression of Sin3A activity promotes differentiation of pluripotent cells into functional neurons

inferredcites →https://doi.org/10.1056/nejmoa1206524openalex-snapshot

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

inferredcites →https://doi.org/10.1073/pnas.1414542111openalex-snapshot

Humanized Foxp2 accelerates learning by enhancing transitions from declarative to procedural performance

inferredcites →https://doi.org/10.1073/pnas.1607014113openalex-snapshot

Reversal of dendritic phenotypes in 16p11.2 microduplication mouse model neurons by pharmacological targeting of a network hub

inferredcites →https://doi.org/10.1086/431652openalex-snapshot

Segmental Duplications and Copy-Number Variation in the Human Genome

inferredcites →https://doi.org/10.1086/491719openalex-snapshot

Diagnostic Genome Profiling in Mental Retardation

inferredcites →https://doi.org/10.1093/acrefore/9780199975839.013.104openalex-snapshot

Diagnostic and Statistical Manual of Mental Disorders

inferredcites →https://doi.org/10.1093/bioinformatics/btt017openalex-snapshot

CRAVAT: cancer-related analysis of variants toolkit

inferredcites →https://doi.org/10.1093/hmg/ddm376openalex-snapshot

Recurrent 16p11.2 microdeletions in autism

inferredcites →https://doi.org/10.1093/hmg/ddt315openalex-snapshot

The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth

inferredcites →https://doi.org/10.1093/hmg/ddu002openalex-snapshot

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

inferredcites →https://doi.org/10.1093/hmg/ddu056openalex-snapshot

Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation

inferredcites →https://doi.org/10.1093/hmg/ddv309openalex-snapshot

Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns

inferredcites →https://doi.org/10.1093/nar/gkq130openalex-snapshot

Analytical approaches to RNA profiling data for the identification of genes enriched in specific cells

inferredcites →https://doi.org/10.1093/nar/gkq537openalex-snapshot

The GeneMANIA prediction server: biological network integration for gene prioritization and predicting gene function

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

denovo-db: a compendium of humande novovariants

inferredcites →https://doi.org/10.1097/gim.0b013e31822c79f9openalex-snapshot

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

inferredcites →https://doi.org/10.1101/gad.212308.112openalex-snapshot

PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth

inferredcites →https://doi.org/10.1101/gr.178855.114openalex-snapshot

The discovery of integrated gene networks for autism and related disorders

inferredcites →https://doi.org/10.1101/gr.187101openalex-snapshot

Segmental Duplications: Organization and Impact Within the Current Human Genome Project Assembly

inferredcites →https://doi.org/10.1101/mcs.a000356openalex-snapshot

De novo mutations in PURA are associated with hypotonia and developmental delay

inferredcites →https://doi.org/10.1111/j.1469-8749.2011.04032.xopenalex-snapshot

The Deciphering Developmental Disorders (DDD) study

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.1227764openalex-snapshot

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

inferredcites →https://doi.org/10.1136/jmedgenet-2014-102588openalex-snapshot

The clinical significance of small copy number variants in neurodevelopmental disorders

inferredcites →https://doi.org/10.1136/jmedgenet-2015-103637openalex-snapshot

KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability

inferredcites →https://doi.org/10.1136/jmedgenet-2016-103814openalex-snapshot

Mutations in HECW2 are associated with intellectual disability and epilepsy

inferredcites →https://doi.org/10.1136/jmedgenet-2016-103943openalex-snapshot

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia

inferredcites →https://doi.org/10.1136/jmg.2008.062950openalex-snapshot

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

inferredcites →https://doi.org/10.1136/jmg.2009.069732openalex-snapshot

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

inferredcites →https://doi.org/10.1136/jmg.38.3.145openalex-snapshot

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

inferredcites →https://doi.org/10.1159/000356060openalex-snapshot

A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features

inferredcites →https://doi.org/10.1176/appi.books.9780890425596openalex-snapshot

Diagnostic and Statistical Manual of Mental Disorders

inferredcites →https://doi.org/10.1186/1471-2350-15-35openalex-snapshot

De novo SCN2A splice site mutation in a boy with Autism spectrum disorder

inferredcites →https://doi.org/10.1186/s13039-015-0186-8openalex-snapshot

Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence

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.pone.0135927openalex-snapshot

Whole-Exome Sequencing in a South American Cohort Links ALDH1A3, FOXN1 and Retinoic Acid Regulation Pathways to Autism Spectrum Disorders

inferredcites →https://doi.org/10.14348/molcells.2017.2307openalex-snapshot

MAPK3 at the Autism-Linked Human 16p11.2 Locus Influences Precise Synaptic Target Selection at Drosophila Larval Neuromuscular Junctions

inferredcites →https://doi.org/10.1523/jneurosci.0882-17.2017openalex-snapshot

Shared Motivational Functions of Ventral Striatum D1 and D2 Medium Spiny Neurons

inferredcites →https://doi.org/10.1523/jneurosci.2068-16.2017openalex-snapshot

A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors

inferredcites →https://doi.org/10.1523/jneurosci.4488-13.2014openalex-snapshot

Cell Type-Specific Expression Analysis to Identify Putative Cellular Mechanisms for Neurogenetic Disorders

inferredcites →https://doi.org/10.1523/jneurosci.4864-13.2015openalex-snapshot

The 16p11.2 Deletion Mouse Model of Autism Exhibits Altered Cortical Progenitor Proliferation and Brain Cytoarchitecture Linked to the ERK MAPK Pathway

inferredcites →https://doi.org/10.2202/1544-6115.1585openalex-snapshot

Permutation P-values Should Never Be Zero: Calculating Exact P-values When Permutations Are Randomly Drawn

inferredcites →https://doi.org/10.3389/fnins.2012.00115openalex-snapshot

Discovery and replication of gene influences on brain structure using LASSO regression

inferredcites →https://doi.org/10.3389/fnmol.2017.00026openalex-snapshot

Proteomic Analysis of Post-synaptic Density Fractions from Shank3 Mutant Mice Reveals Brain Region Specific Changes Relevant to Autism Spectrum Disorder

inferredcites →https://doi.org/10.7554/elife.20059openalex-snapshot

MEF2C regulates cortical inhibitory and excitatory synapses and behaviors relevant to neurodevelopmental 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/s41467-019-12435-8openalex-snapshot

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

inferred← citeshttps://doi.org/10.1186/s13073-017-0498-xopenalex-snapshot

Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

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