Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity (Q90597210)

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14 April 2020

title

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity (English)

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14 April 2020

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14 April 2020

Trygve E. Bakken

5

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14 April 2020

Joseph D Dougherty

7

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14 April 2020

Ed S Lein

8

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14 April 2020

Evan E. Eichler

11

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14 April 2020

Fereydoun Hormozdiari

9

object named as

Fereydoun Hormozdiari

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14 April 2020

1

Bradley P Coe

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14 April 2020

Madeleine R Geisheker

4

object named as

Madeleine R Geisheker

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14 April 2020

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Holly A F Stessman

2

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14 April 2020

Allison M Lake

6

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14 April 2020

Raphael A Bernier

10

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14 April 2020

publication date

17 December 2018

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14 April 2020

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14 April 2020

volume

51

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14 April 2020

issue

1

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14 April 2020

page(s)

106-116

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Strong association of de novo copy number mutations with autism

14 April 2020

cites work

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

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

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7 January 2021

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

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7 January 2021

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

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

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7 January 2021

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

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7 January 2021

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

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7 January 2021

A copy number variation morbidity map of developmental delay

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

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7 January 2021

denovo-db: a compendium of human de novo variants.

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7 January 2021

Intellectual disability and its relationship to autism spectrum disorders

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7 January 2021

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7 January 2021

The contribution of de novo coding mutations to autism spectrum disorder

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7 January 2021

Prevalence and architecture of de novo mutations in developmental disorders

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7 January 2021

Diagnostic exome sequencing in persons with severe intellectual disability

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7 January 2021

Synaptic, transcriptional and chromatin genes disrupted in autism

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7 January 2021

Mutations in HECW2 are associated with intellectual disability and epilepsy

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7 January 2021

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

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7 January 2021

Excess of rare, inherited truncating mutations in autism

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Genome-wide characteristics of de novo mutations in autism

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7 January 2021

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

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7 January 2021

De novo genic mutations among a Chinese autism spectrum disorder cohort.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

The discovery of integrated gene networks for autism and related disorders

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Cell type-specific expression analysis to identify putative cellular mechanisms for neurogenetic disorders

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7 January 2021

Recurrent reciprocal copy number variants: Roles and rules in neurodevelopmental disorders.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

1 reference

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7 January 2021

Recurrent 16p11.2 microdeletions in autism

1 reference

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7 January 2021

A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies.

1 reference

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7 January 2021

Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0288-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0288-4

7 January 2021

CLTC as a clinically novel gene associated with multiple malformations and developmental delay

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0288-4

7 January 2021

Association between a GABRB3 polymorphism and autism.

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0288-4

7 January 2021

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

1 reference

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7 January 2021

The clinical significance of small copy number variants in neurodevelopmental disorders

1 reference

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7 January 2021

MEF2C regulates cortical inhibitory and excitatory synapses and behaviors relevant to neurodevelopmental disorders.

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0288-4

7 January 2021

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

1 reference

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7 January 2021

Discovery and Replication of Gene Influences on Brain Structure Using LASSO Regression

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0288-4

7 January 2021

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

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0288-4

7 January 2021

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0288-4

7 January 2021

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

1 reference

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7 January 2021

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0288-4

7 January 2021

Genomic Patterns of De Novo Mutation in Simplex Autism.

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0288-4

7 January 2021

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

1 reference

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7 January 2021

The 16p11.2 deletion mouse model of autism exhibits altered cortical progenitor proliferation and brain cytoarchitecture linked to the ERK MAPK pathway.

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0288-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0288-4

7 January 2021

Changes in the development of striatum are involved in repetitive behavior in autism.

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0288-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41588-018-0288-4

7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

First glimpses of the neurobiology of autism spectrum disorder.

1 reference

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7 January 2021

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

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7 January 2021

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

1 reference

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7 January 2021

A genotype-first approach to defining the subtypes of a complex disease

1 reference

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7 January 2021

Disruptive CHD8 mutations define a subtype of autism early in development

1 reference

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7 January 2021

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

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7 January 2021

Brain structure. Cell types in the mouse cortex and hippocampus revealed by single-cell RNA-seq

1 reference

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7 January 2021

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

1 reference

12 December 2020

STAR: ultrafast universal RNA-seq aligner

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1038/S41588-018-0288-4

Identifiers

DOI

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14 April 2020

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14 April 2020

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