(Q39162331)

9 September 2017

Autism genetics: opportunities and challenges for clinical translation (English)

1 reference

9 September 2017

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Daniel Moreno-De-Luca

3

object named as

Daniel Moreno-De-Luca

0 references

John I. Nurnberger

5

object named as

John I Nurnberger

1 reference

9 September 2017

Jacob A S Vorstman

1

1 reference

9 September 2017

Jeremy R Parr

2

1 reference

9 September 2017

Daniel Moreno-De-Luca

3

1 reference

9 September 2017

Richard J L Anney

4

1 reference

9 September 2017

Joachim F Hallmayer

6

1 reference

9 September 2017

language of work or name

1 reference

6 March 2017

1 reference

9 September 2017

Nature Reviews Genetics

1 reference

9 September 2017

18

1 reference

9 September 2017

362-376

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9 September 2017

6

1 reference

https://scigraph.springernature.com/pub.10.1038/nrg.2017.4

9 September 2017

0 references

cites work

Advancing the understanding of autism disease mechanisms through genetics

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Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms

31 March 2020

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The role of de novo mutations in the genetics of autism spectrum disorders

31 March 2020

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

31 March 2020

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The tuberous sclerosis complex

31 March 2020

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Fragile X syndrome: a review of associated medical problems

31 March 2020

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Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2017.4

Most genetic risk for autism resides with common variation

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2017.4

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

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2017.4

Biological insights from 108 schizophrenia-associated genetic loci

31 March 2020

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Using genetic findings in autism for the development of new pharmaceutical compounds.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2017.4

Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

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

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2017.4

Microarray as a first genetic test in global developmental delay: a cost-effectiveness analysis.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Ethical and policy issues in genetic testing and screening of children

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Practice parameter for the assessment and treatment of children and adolescents with autism spectrum disorder

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2017.4

Exome sequencing as a tool for Mendelian disease gene discovery

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

De novo mutations in human genetic disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Non-coding genetic variants in human disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Using whole-exome sequencing to identify inherited causes of autism

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Autism spectrum disorder in the genetics clinic: a review.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Molecular findings among patients referred for clinical whole-exome sequencing

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Next-generation sequencing to guide cancer therapy

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

AutDB: a gene reference resource for autism research

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Disruptive CHD8 mutations define a subtype of autism early in development

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

A de novo convergence of autism genetics and molecular neuroscience

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

The contribution of de novo coding mutations to autism spectrum disorder

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Synaptic, transcriptional and chromatin genes disrupted in autism

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

The discovery of integrated gene networks for autism and related disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

A double hit implicates DIAPH3 as an autism risk gene.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

A unified genetic theory for sporadic and inherited autism

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Gastrointestinal dysfunction in children with autism spectrum disorders.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Immunological and autoimmune considerations of Autism Spectrum Disorders.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Treatment for Sleep Problems in Children with Autism and Caregiver Spillover Effects.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

CNVs: harbingers of a rare variant revolution in psychiatric genetics

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Genetic causes of developmental disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Copy number variations in neurodevelopmental disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

De novo mutations in schizophrenia implicate synaptic networks

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Novel features of 3q29 deletion syndrome: Results from the 3q29 registry.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Behavioral signatures related to genetic disorders in autism

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

The impact of chromosomal microarray on clinical management: a retrospective analysis.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

An atlas of genetic correlations across human diseases and traits

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Common polygenic risk for autism spectrum disorder (ASD) is associated with cognitive ability in the general population

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Association of Psychiatric and Neurologic Comorbidity With Mortality Among Persons With Autism Spectrum Disorder in a Danish Population

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Premature mortality in autism spectrum disorder

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

The health status of adults on the autism spectrum

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Behavioral phenotype of fragile X syndrome in adolescence and adulthood

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

The social behavioral phenotype in boys and girls with an extra X chromosome (Klinefelter syndrome and Trisomy X): a comparison with autism spectrum disorder.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

The impact of ADHD on the cognitive and academic functioning of children with NF1.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Spinocerebellar ataxia: relationship between phenotype and genotype - a review

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Molecular Pathological Classification of Neurodegenerative Diseases: Turning towards Precision Medicine

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Classification of behaviorally defined disorders: biology versus the DSM.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

A novel conceptual framework for psychiatry: vertically and horizontally integrated approaches to redundancy and pleiotropism that co-exist with a classification of symptom clusters based on DSM-5.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Parents' perceptions of the usefulness of chromosomal microarray analysis for children with autism spectrum disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

New ethical issues for genetic counseling in common mental disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Evidence for ASD recurrence rates and reproductive stoppage from large UK ASD research family databases.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Lack of evidence for increased genetic loading for autism among families of affected females: a replication from family history data in two large samples

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Recurrence rates in autism spectrum disorders.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Early sex differences are not autism-specific: A Baby Siblings Research Consortium (BSRC) study

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Genetic testing and genetic counseling among Medicaid-enrolled children with autism spectrum disorder in 2001 and 2007.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Diagnostic yield of genetic testing in children diagnosed with autism spectrum disorders at a regional referral center

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Autism genetic testing information needs among parents of affected children: A qualitative study

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Neuropsychiatric genetics in developing countries: Current challenges

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Genetic testing and corresponding services among individuals with autism spectrum disorder (ASD)

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Recognising and diagnosing autism in children and young people: summary of NICE guidance.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Disentangling the heterogeneity of autism spectrum disorder through genetic findings

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Positive effects of methylphenidate on hyperactivity are moderated by monoaminergic gene variants in children with autism spectrum disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Pharmacogenetics of risperidone therapy in autism: association analysis of eight candidate genes with drug efficacy and adverse drug reactions.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Risperidone-induced weight gain in referred children with autism spectrum disorders is associated with a common polymorphism in the 5-hydroxytryptamine 2C receptor gene

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Moderation of antipsychotic-induced weight gain by energy balance gene variants in the RUPP autism network risperidone studies.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Systems-based discovery advances drug development.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Lessons learned from studying syndromic autism spectrum disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Peering into the pharmaceutical "pipeline": investigational drugs, clinical trials, and industry priorities

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

A Double-Blind, Placebo-Controlled Comparator Study of LY2140023 monohydrate in patients with schizophrenia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

The potential role of the antioxidant and detoxification properties of glutathione in autism spectrum disorders: a systematic review and meta-analysis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

The role of glutamate and its receptors in autism and the use of glutamate receptor antagonists in treatment

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Evaluating a unique, specialist psychiatric genetic counseling clinic: uptake and impact

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Expanding the genetic counseling workforce: program directors' views on increasing the size of genetic counseling graduate programs

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Large-Scale Discovery of Disease-Disease and Disease-Gene Associations

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

The road to precision psychiatry: translating genetics into disease mechanisms.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Validation of Autism Spectrum Disorder Diagnoses in Large Healthcare Systems with Electronic Medical Records

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Does a claims diagnosis of autism mean a true case?

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Phenotyping, Etiological Factors, and Biomarkers: Toward Precision Medicine in Autism Spectrum Disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Economic cost of autism in the UK

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

ClinGen--the Clinical Genome Resource

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Clinical phenotype of the recurrent 1q21.1 copy-number variant

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

22q11.2 deletion syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Clinical report—health supervision for children with Prader-Willi syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Dramatic reduction in self-injury in Lesch-Nyhan disease following S-adenosylmethionine administration

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Treatment of Lesch-Nyhan disease with S-adenosylmethionine: experience with five young Malaysians, including a girl.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Designing and recruiting to UK autism spectrum disorder research databases: do they include representative children with valid ASD diagnoses?

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

What should autism research focus upon? Community views and priorities from the United Kingdom

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

The familial risk of autism

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Large recurrent microdeletions associated with schizophrenia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

1q21.1 Microduplication expression in adults

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Common recurrent microduplication syndromes: diagnosis and management in clinical practice

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Chromosome 2q37 deletion: clinical and molecular aspects

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Cognitive-behavioral features of children with Wolf-Hirschhorn syndrome: preliminary report of 12 cases.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Children with 7q11.23 Duplication Syndrome: Speech, Language, Cognitive, and Behavioral Characteristics and their Implications for Intervention

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Duplication of GTF2I results in separation anxiety in mice and humans

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

7q11.23 Duplication syndrome: Physical characteristics and natural history.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Autistic symptoms among children and young adults with isodicentric chromosome 15

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Genetic and clinical characterization of patients with an interstitial duplication 15q11‐q13, emphasizing behavioral phenotype and response to treatment

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

The 15q11.2 BP1-BP2 microdeletion syndrome: a review

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Microduplications of 16p11.2 are associated with schizophrenia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Microduplication 22q11.2: a new chromosomal syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Large-scale discovery of novel genetic causes of developmental disorders.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

De novo mutations in moderate or severe intellectual disability

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

The ARID1B phenotype: what we have learned so far.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.4

The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

31 March 2020

1 reference

12 December 2020

Autism and related behaviours

1 reference

12 December 2020

Multiple rare variants in the etiology of autism spectrum disorders

1 reference

12 December 2020

Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood.

1 reference

12 December 2020

Implications of the broader phenotype for concepts of autism

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRG.2017.4

1 reference

9 September 2017

1 reference