(Q34017562)

30 July 2017

Disentangling the heterogeneity of autism spectrum disorder through genetic findings (English)

1 reference

30 July 2017

autism spectrum disorder

0 references

0 references

1 reference

2

Daniel H Geschwind

1 reference

30 July 2017

Shafali S Jeste

1

1 reference

PubMed ID

24468882

30 July 2017

language of work or name

English

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publication date

28 January 2014

1 reference

30 July 2017

Nature Reviews Neurology

1 reference

30 July 2017

10

1 reference

30 July 2017

74-81

1 reference

30 July 2017

2

1 reference

https://scigraph.springernature.com/pub.10.1038/nrneurol.2013.278

30 July 2017

0 references

cites work

Fragile X syndrome: a preclinical review on metabotropic glutamate receptor 5 (mGluR5) antagonists and drug development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

The causes and consequences of genetic heterogeneity in cancer evolution

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Clinical characteristics of children with autism spectrum disorder and co-occurring epilepsy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Population structure confounds autism genetic classifier

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Understanding sex bias in autism spectrum disorder

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Examining and interpreting the female protective effect against autistic behavior

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Using whole-exome sequencing to identify inherited causes of autism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

The genetics of Autism Spectrum Disorders--a guide for clinicians

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

A practice pathway for the identification, evaluation, and management of insomnia in children and adolescents with autism spectrum disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Autism genetics: searching for specificity and convergence

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Targeted treatment trials for tuberous sclerosis and autism: no longer a dream

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

An evaluation of the role and treatment of elevated male hormones in autism spectrum disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

SHANK1 Deletions in Males with Autism Spectrum Disorder

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Prevalence of autism spectrum disorders--Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

CNVs: harbingers of a rare variant revolution in psychiatric genetics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

What does CNTNAP2 reveal about autism spectrum disorder?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Motor impairment in sibling pairs concordant and discordant for autism spectrum disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

A behavioral comparison of male and female adults with high functioning autism spectrum conditions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Autism symptoms and internalizing psychopathology in girls and boys with autism spectrum disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

The neurology of autism spectrum disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Sex differences in the evaluation and diagnosis of autism spectrum disorders among children

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Open-label add-on treatment trial of minocycline in fragile X syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Pragmatic language and school related linguistic abilities in siblings of children with autism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Motor Coordination in Autism Spectrum Disorders: A Synthesis and Meta-Analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Diffusion features of white matter in tuberous sclerosis with tractography

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Tsc2-Rheb signaling regulates EphA-mediated axon guidance

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

The Role of Epilepsy and Epileptiform EEGs in Autism Spectrum Disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Epidemiology of Pervasive Developmental Disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

A pilot open label, single dose trial of fenobam in adults with fragile X syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Tuberous sclerosis complex proteins control axon formation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Sleep problems in children with autism spectrum disorders, developmental delays, and typical development: a population-based study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

The TSC1-TSC2 complex: a molecular switchboard controlling cell growth

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Genetics evaluation for the etiologic diagnosis of autism spectrum disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Cognitive deficits in Tsc1+/- mice in the absence of cerebral lesions and seizures.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Genome-wide analyses of human perisylvian cerebral cortical patterning.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Dyspraxia in autism: association with motor, social, and communicative deficits

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Autism spectrum disorders: developmental disconnection syndromes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Autism and tuberous sclerosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

The effects of seizures on the connectivity and circuitry of the developing brain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Increased brain apparent diffusion coefficient in tuberous sclerosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Female with autistic disorder and monosomy X (Turner syndrome): parent-of-origin effect of the X chromosome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Annotation: tuberous sclerosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Association of tuberous sclerosis of temporal lobes with autism and atypical autism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Autism and genetics. A decade of research

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Neuropsychological aspects of tuberous sclerosis in relation to epilepsy and MRI findings.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

Using the autism diagnostic interview--revised to increase phenotypic homogeneity in genetic studies of autism.

5 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.278

Patterns of growth in verbal abilities among children with autism spectrum disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.278

Rare inherited variation in autism: beginning to see the forest and a few trees

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.278

Characterization of autism in young children with tuberous sclerosis complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.278

Neuro-epileptic determinants of autism spectrum disorders in tuberous sclerosis complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.278

Cerebellar lesions in tuberous sclerosis complex: neurobehavioral and neuroimaging correlates.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.278

Autism and the cerebellum: evidence from tuberous sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.278

Diffusion tensor imaging identifies changes in normal-appearing white matter within the epileptogenic zone in tuberous sclerosis complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.278

Cerebral diffusion tensor images in children with tuberous sclerosis: a preliminary report.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.278

Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.278

Sex differences in children with autism spectrum disorder identified within a high-risk infant cohort.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.278

Sex differences in repetitive stereotyped behaviors in autism: implications for genetic liability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.278

The effects of gender and age on repetitive and/or restricted behaviors and interests in adults with autism spectrum disorders and intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.278

Sex differences in cognitive domains and their clinical correlates in higher-functioning autism spectrum disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.278

How different are girls and boys above and below the diagnostic threshold for autism spectrum disorders?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.278

Gender bias, female resilience, and the sex ratio in autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.278

Vulnerability for autism traits in boys and men with an extra X chromosome (47,XXY): the mediating role of cognitive flexibility.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.278

Impairment in movement skills of children with autistic spectrum disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.278

Epilepsy and autism spectrum disorders: are there common developmental mechanisms?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.278

Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.278

Severe sleep disturbance and daytime challenging behaviour in children with severe learning disabilities.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125617

29 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.278

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.278

Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2013.278

10.1038/NRNEUROL.2013.278

31 March 2020

Identifiers

DOI

1 reference

PubMed ID

24468882

Dimensions Publication ID

30 July 2017

0 references

1 reference

30 July 2017

1 reference

PubMed ID

24468882