(Q38462559)

3 September 2017

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title

Recent advances in the genetics of autism spectrum disorder (English)

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3 September 2017

main subject

autism spectrum disorder

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2

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3 September 2017

Silvia De Rubeis

1

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language of work or name

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1 June 2015

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Current Neurology and Neuroscience Reports

3 September 2017

published in

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3 September 2017

volume

15

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3 September 2017

issue

6

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3 September 2017

page(s)

36

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https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

3 September 2017

1 reference

The co-morbidity burden of children and young adults with autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Heritability in the genomics era — concepts and misconceptions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Classical twin studies and beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Autism as a strongly genetic disorder: evidence from a British twin study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Concordance for the syndrome of autism in 40 pairs of afflicted twins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Infantile autism: a genetic study of 21 twin pairs

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Most genetic risk for autism resides with common variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Common genetic variants, acting additively, are a major source of risk for autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Recurrence of autism spectrum disorders in full- and half-siblings and trends over time: a population-based cohort study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Human genetic variation and its contribution to complex traits

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

A genome-wide scan for common alleles affecting risk for autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Individual common variants exert weak effects on the risk for autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Genetic architecture in autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Strong association of de novo copy number mutations with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Structural variation of chromosomes in autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

The story of Rett syndrome: from clinic to neurobiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Patterns and rates of exonic de novo mutations in autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

De Novo Gene Disruptions in Children on the Autistic Spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Using whole-exome sequencing to identify inherited causes of autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

A systematic survey of loss-of-function variants in human protein-coding genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

De novo mutations in human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Variation in genome-wide mutation rates within and between human families

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Rate of de novo mutations and the importance of father's age to disease risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

De novo copy number variants associated with intellectual disability have a paternal origin and age bias.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

A comprehensive assessment of parental age and psychiatric disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Autism risk across generations: a population-based study of advancing grandpaternal and paternal age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Advancing paternal age and risk of autism: new evidence from a population-based study and a meta-analysis of epidemiological studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Why are autism spectrum conditions more prevalent in males?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

SHANK1 Deletions in Males with Autism Spectrum Disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Examining and interpreting the female protective effect against autistic behavior

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Postnatal Neurodevelopmental Disorders: Meeting at the Synapse?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

De novo mutations in schizophrenia implicate synaptic networks

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Molecular and synaptic defects in intellectual disability syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Progress toward treatments for synaptic defects in autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Spatio-temporal transcriptome of the human brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Transcriptional landscape of the prenatal human brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

De novo TBR1 mutations in sporadic autism disrupt protein functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Glial ankyrins facilitate paranodal axoglial junction assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-015-0553-1

Tbr1 haploinsufficiency impairs amygdalar axonal projections and results in cognitive abnormality

21 January 2018

1 reference

12 December 2020

Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

1 reference

12 December 2020

Epidemiology of autistic disorder and other pervasive developmental disorders

1 reference

12 December 2020

Disruptive CHD8 mutations define a subtype of autism early in development

1 reference

12 December 2020

A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders

1 reference

12 December 2020

10.1007/S11910-015-0553-1

Identifiers

DOI

1 reference

Dimensions Publication ID

3 September 2017

1041933589

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1 reference