Autism genetics: opportunities and challenges for clinical translation

No abstract is available for this paper.

• Publication year

  2017

• Venue

  Nature reviews genetics

• Publication date

  2017-03-06

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/nrg.2017.4PMID 28260791
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Deletion Syndrome

  2019cited by this paper
• Large-scale discovery of novel genetic causes of developmental disorders

  2018cited by this paper
• Association of Psychiatric and Neurologic Comorbidity With Mortality Among Persons With Autism Spectrum Disorder in a Danish Population.

  2016cited by this paper
• Molecular Pathological Classification of Neurodegenerative Diseases: Turning towards Precision Medicine

  2016cited by this paper
• Novel features of 3q29 deletion syndrome: Results from the 3q29 registry

  2016cited by this paper
• The road to precision psychiatry: translating genetics into disease mechanisms

  2016cited by this paper
• Large-Scale Discovery of Disease-Disease and Disease-Gene Associations

  2016cited by this paper
• Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.

  2016cited by this paper
• Expanding the genetic counseling workforce: program directors’ views on increasing the size of genetic counseling graduate programs

  2016cited by this paper
• Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

  2016cited by this paper
• Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder

  2016cited by this paper
• 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort

  2016cited by this paper
• Lessons learned from studying syndromic autism spectrum disorders

  2016cited by this paper
• Explaining the variable penetrance of CNVs: Parental intelligence modulates expression of intellectual impairment caused by the 22q11.2 deletion

  2016cited by this paper
• Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature

  2016cited by this paper
• Phenotyping, Etiological Factors, and Biomarkers: Toward Precision Medicine in Autism Spectrum Disorders

  2016cited by this paper
• 5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C: A progressive disease

  2016cited by this paper
• Advancing the understanding of autism disease mechanisms through genetics

  2016cited by this paper
• Premature mortality in autism spectrum disorder

  2016cited by this paper
• Autism genetic testing information needs among parents of affected children: A qualitative study.

  2016cited by this paper
• Ethical and Policy Issues in Genetic Testing and Screening of Children

  2016cited by this paper
• Spinocerebellar ataxia: relationship between phenotype and genotype – a review

  2016cited by this paper
• Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication

  2016cited by this paper
• Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia

  2016cited by this paper
• A de novo frameshift mutation in chromodomain helicase DNA‐binding domain 8 (CHD8): A case report and literature review

  2016cited by this paper
• 7q11.23 Duplication syndrome: Physical characteristics and natural history

  2015cited by this paper
• The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review

  2015cited by this paper
• Peering into the pharmaceutical "pipeline": investigational drugs, clinical trials, and industry priorities.

  2015cited by this paper
• Non-coding genetic variants in human disease.

  2015cited by this paper
• Evidence for ASD Recurrence Rates and Reproductive Stoppage From Large UK ASD Research Family Databases

  2015cited by this paper
• 1q21.1 Recurrent Microdeletion

  2015cited by this paper
• The health status of adults on the autism spectrum

  2015cited by this paper
• The discovery of integrated gene networks for autism and related disorders

  2015cited by this paper
• Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.

  2015cited by this paper
• Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

  2015cited by this paper
• De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature

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• Phenotypic and Molecular Convergence of 2q23.1 Deletion Syndrome with Other Neurodevelopmental Syndromes Associated with Autism Spectrum Disorder

  2015cited by this paper
• Validation of Autism Spectrum Disorder Diagnoses in Large Healthcare Systems with Electronic Medical Records

  2015cited by this paper
• ClinGen--the Clinical Genome Resource.

  2015cited by this paper
• Designing and recruiting to UK autism spectrum disorder research databases: do they include representative children with valid ASD diagnoses?

  2015cited by this paper
• Common polygenic risk for autism spectrum disorder (ASD) is associated with cognitive ability in the general population

  2015cited by this paper
• [Genetic causes of developmental disorders].

  2015cited by this paper
• Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios

  2015cited by this paper
• An Atlas of Genetic Correlations across Human Diseases and Traits

  2015cited by this paper
• 7q11.23 Duplication Syndrome

  2015cited by this paper
• 22q11.2 deletion syndrome

  2015cited by this paper
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  2015cited by this paper
• Clinical phenotype of the recurrent 1q21.1 copy-number variant

  2015cited by this paper
• Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders

  2015cited by this paper
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  2015cited by this paper
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  2015cited by this paper
• The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment

  2015cited by this paper
• Treatment for Sleep Problems in Children with Autism and Caregiver Spillover Effects

  2015cited by this paper
• Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes.

  2015cited by this paper
• Next-generation sequencing to guide cancer therapy

  2015cited by this paper
• Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders

  2015cited by this paper
• Neuropsychiatric genetics in developing countries: Current challenges.

  2014cited by this paper
• De Novo Mutations in Moderate or Severe Intellectual Disability

  2014cited by this paper
• GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy

  2014cited by this paper
• The impact of chromosomal microarray on clinical management: a retrospective analysis

  2014cited by this paper
• DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics

  2014cited by this paper
• De novo mutations in schizophrenia implicate synaptic networks

  2014cited by this paper
• Most genetic risk for autism resides with common variation

  2014cited by this paper
• The contribution of de novo coding mutations to autism spectrum disorder

  2014cited by this paper
• The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with Autism Spectrum Disorder

  2014cited by this paper
• Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

  2014cited by this paper
• Disruptive CHD8 mutations define a subtype of autism early in development.

  2014cited by this paper
• The role of de novo mutations in the genetics of autism spectrum disorders

  2014cited by this paper
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  2014cited by this paper
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  2014cited by this paper
• A SWI/SNF related autism syndrome caused by de novo mutations in ADNP

  2014cited by this paper
• Practice parameter for the assessment and treatment of children and adolescents with autism spectrum disorder.

  2014cited by this paper
• Gastrointestinal Dysfunction in Children With Autism Spectrum Disorders

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• Fragile X Syndrome: A Review of Associated Medical Problems

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• Behavioral signatures related to genetic disorders in autism

  2014cited by this paper
• What should autism research focus upon? Community views and priorities from the United Kingdom

  2014cited by this paper
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  2014cited by this paper
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  2014cited by this paper
• Classification of Behaviorally Defined Disorders: Biology Versus the DSM

  2014cited by this paper
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  2014cited by this paper
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  2014cited by this paper
• The familial risk of autism.

  2014cited by this paper
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  2014cited by this paper
• Molecular findings among patients referred for clinical whole-exome sequencing.

  2014cited by this paper
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  2014cited by this paper
• Synaptic, transcriptional, and chromatin genes disrupted in autism

  2014cited by this paper
• Biological Insights From 108 Schizophrenia-Associated Genetic Loci

  2014cited by this paper
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  2013cited by this paper
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  2013cited by this paper
• Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.

  2013cited by this paper
• Genetic testing and genetic counseling among medicaid-enrolled children with autism spectrum disorder in 2001 and 2007

  2013cited by this paper
• Autism spectrum disorder in the genetics clinic: a review

  2013cited by this paper
• Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

  2013cited by this paper
• Genetic causes of developmental disorders.

  2013cited by this paper
• New ethical issues for genetic counseling in common mental disorders.

  2013cited by this paper
• Using whole-exome sequencing to identify inherited causes of autism.

  2013cited by this paper
• Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

  2013cited by this paper

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