Risk factors for autism: translating genomic discoveries into diagnostics (Q37893976)

24 August 2017

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title

Risk factors for autism: translating genomic discoveries into diagnostics (English)

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24 August 2017

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2

Geraldine Dawson

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24 August 2017

1

Stephen W Scherer

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24 August 2017

24 June 2011

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24 August 2017

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24 August 2017

130

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24 August 2017

1

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24 August 2017

123-148

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https://scigraph.springernature.com/pub.10.1007/s00439-011-1037-2

24 August 2017

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Large, rare chromosomal deletions associated with severe early-onset obesity

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A synaptic trek to autism

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Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

21 January 2018

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Contemplating effects of genomic structural variation

21 January 2018

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The cycle of genome-directed medicine

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Assessing the impact of a combined analysis of four common low-risk genetic variants on autism risk

21 January 2018

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Autism spectrum disorders: clinical and research frontiers

21 January 2018

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Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder

21 January 2018

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Genomewide association studies: history, rationale, and prospects for psychiatric disorders

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Randomized, controlled trial of an intervention for toddlers with autism: the Early Start Denver Model

21 January 2018

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Do common variants play a role in risk for autism? Evidence and theoretical musings

21 January 2018

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Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

21 January 2018

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The genetics of autism: key issues, recent findings, and clinical implications

21 January 2018

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SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

21 January 2018

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Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

21 January 2018

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Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.

21 January 2018

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Genetics of autistic disorders: review and clinical implications

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De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

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Structure of the autism symptom phenotype: A proposed multidimensional model.

21 January 2018

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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

21 January 2018

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Developmental neurotoxicity of industrial chemicals

21 January 2018

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Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

21 January 2018

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De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment

21 January 2018

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De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

21 January 2018

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Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

21 January 2018

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Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

21 January 2018

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Identification and Evaluation of Children With Autism Spectrum Disorders

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

21 January 2018

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21 January 2018

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21 January 2018

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Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

21 January 2018

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Finding the missing heritability of complex diseases

21 January 2018

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Structural variation of chromosomes in autism spectrum disorder

21 January 2018

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Microduplications of 16p11.2 are associated with schizophrenia

21 January 2018

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Biobanking and pharmacogenomics

21 January 2018

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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Copy-number variants in neurodevelopmental disorders: promises and challenges

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

What is a meaningful result? Disclosing the results of genomic research in autism to research participants

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Contribution of SHANK3 mutations to autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Identifying autism loci and genes by tracing recent shared ancestry

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

A population genetic approach to mapping neurological disorder genes using deep resequencing

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

The Epidemiology of Autism Spectrum Disorders *

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Autism genetics: strategies, challenges, and opportunities

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Functional impact of global rare copy number variation in autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Challenges and standards in integrating surveys of structural variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Strong association of de novo copy number mutations with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Gene and miRNA expression profiles in autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Independent and dependent contributions of advanced maternal and paternal ages to autism risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Clinical genetic testing for patients with autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Genetic counseling in autism and pervasive developmental disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

The genetics of child psychiatric disorders: focus on autism and Tourette syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Genetics of autism: overview and new directions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Ethical implications of array comparative genomic hybridization in complex phenotypes: points to consider in research

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative: methods of the EGAPP Working Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Autism as a paradigmatic complex genetic disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Guidelines for molecular karyotyping in constitutional genetic diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Meta-analysis of gray matter abnormalities in autism spectrum disorder: should Asperger disorder be subsumed under a broader umbrella of autistic spectrum disorder?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Autism and autism spectrum disorders: diagnostic issues for the coming decade

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

A double hit implicates DIAPH3 as an autism risk gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Intervening in infancy: implications for autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Common genetic variants on 5p14.1 associate with autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Drugmakers dance with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Association between microdeletion and microduplication at 16p11.2 and autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

A genome-wide linkage and association scan reveals novel loci for autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

PTEN: a new guardian of the genome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Singleton deletions throughout the genome increase risk of bipolar disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Which way for genetic-test regulation? Leave test interpretation to specialists

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1037-2

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

21 January 2018

1 reference

12 December 2020

The classification of autism, Asperger's syndrome, and pervasive developmental disorder

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12 December 2020

Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.

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12 December 2020

Outcomes of interest in evidence-based evaluations of genetic tests

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12 December 2020

Not so simple: a quasi-experimental study of how researchers adjudicate genetic research results

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12 December 2020

Psychiatric disorders in extremely preterm children: longitudinal finding at age 11 years in the EPICure study

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12 December 2020

Essential versus complex autism: definition of fundamental prognostic subtypes

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12 December 2020

Disruption of the neurexin 1 gene is associated with schizophrenia

1 reference

12 December 2020

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

1 reference

12 December 2020

Maternal infection and immune involvement in autism

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12 December 2020

Maternal residence near agricultural pesticide applications and autism spectrum disorders among children in the California Central Valley

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12 December 2020

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

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12 December 2020

Prevalence of autism spectrum disorders - Autism and Developmental Disabilities Monitoring Network, United States, 2006

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12 December 2020

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

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12 December 2020

Recurrent 16p11.2 microdeletions in autism

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12 December 2020

Association and mutation analyses of 16p11.2 autism candidate genes

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12 December 2020

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

1 reference

12 December 2020

Independent and dependent contributions of advanced maternal and paternal ages to autism risk

1 reference

12 December 2020

10.1007/S00439-011-1037-2

Identifiers

DOI

1 reference

24 August 2017

1 reference

PubMed ID

21701786