(Q37953135)

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Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research

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Europe PubMed Central

PubMed publication ID

25 August 2017

Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research (English)

1 reference

Europe PubMed Central

PubMed publication ID

25 August 2017

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based on heuristic

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generalized epilepsy

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based on heuristic

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author name string

R Hochstenbach

1

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Europe PubMed Central

PubMed publication ID

25 August 2017

J E Buizer-Voskamp

2

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Europe PubMed Central

PubMed publication ID

25 August 2017

J A S Vorstman

3

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Europe PubMed Central

PubMed publication ID

25 August 2017

R A Ophoff

4

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Europe PubMed Central

PubMed publication ID

25 August 2017

publication date

2 November 2011

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Europe PubMed Central

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25 August 2017

Cytogenetics and Genome Research

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Europe PubMed Central

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25 August 2017

135

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Europe PubMed Central

PubMed publication ID

25 August 2017

3-4

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Europe PubMed Central

PubMed publication ID

25 August 2017

174-202

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Europe PubMed Central

PubMed publication ID

25 August 2017

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Mapping translocation breakpoints by next-generation sequencing

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Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder

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Resolving the resolution of array CGH.

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Origins and functional impact of copy number variation in the human genome

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Copy-number variations associated with neuropsychiatric conditions

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Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

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Cytogenetic microarrays in Manitoba patients with developmental delay.

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Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

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Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

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Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

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DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation

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Monoallelic yet combinatorial expression of variable exons of the protocadherin-alpha gene cluster in single neurons

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Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization

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DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

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

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Strong synaptic transmission impact by copy number variations in schizophrenia

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Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

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Detection of large-scale variation in the human genome

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Copy number variation in schizophrenia in the Japanese population

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Copy number variations of chromosome 16p13.1 region associated with schizophrenia

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Rare chromosomal deletions and duplications increase risk of schizophrenia

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Chromosomal mosaicism goes global

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Somatic genome variations in health and disease

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Population analysis of large copy number variants and hotspots of human genetic disease

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De novo rates and selection of large copy number variation

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

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Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.

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American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

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Aneuploid neurons are functionally active and integrated into brain circuitry

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The role of copy number variation in schizophrenia

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Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

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Economic cost of autism in the UK

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Paired-end mapping reveals extensive structural variation in the human genome

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Recurrent 16p11.2 microdeletions in autism

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

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Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

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Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development.

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Chromosomal abnormalities and mental illness.

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

New copy number variations in schizophrenia.

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Parental perceived value of a diagnosis for intellectual disability (ID): a qualitative comparison of families with and without a diagnosis for their child's ID.

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A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia.

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The use of array-CGH in a cohort of Greek children with developmental delay.

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Finding the missing heritability of complex diseases

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Structural variation of chromosomes in autism spectrum disorder

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Analysis of genetic deletions and duplications in the University College London bipolar disorder case control sample

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Computational methods for discovering structural variation with next-generation sequencing

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

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A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

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Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

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Autism spectrum disorders--a genetics review

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Disruption of two novel genes by a translocation co-segregating with schizophrenia

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

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BAC array CGH reveals genomic aberrations in idiopathic mental retardation.

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Disrupted-In-Schizophrenia 1, a candidate gene for schizophrenia, participates in neurite outgrowth

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Early embryonic chromosome instability results in stable mosaic pattern in human tissues

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Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

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Microdeletions of 3q29 confer high risk for schizophrenia

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Epilepsy and the new cytogenetics

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Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition

1 reference

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Environmental influence on L1 retrotransposons in the adult hippocampus

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L1 retrotransposition in neurons is modulated by MeCP2

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Transgenerational genetic effects on phenotypic variation and disease risk

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21 January 2018

Phenotypic manifestations of copy number variation in chromosome 16p13.11.

1 reference

https://api.crossref.org/works/10.1159%2F000332928

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A genome-wide investigation of SNPs and CNVs in schizophrenia

1 reference

https://api.crossref.org/works/10.1159%2F000332928

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Array comparative genomic hybridization for diagnosis of developmental delay: an exploratory cost-consequences analysis.

1 reference

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Major contribution of dominant inheritance to autism spectrum disorders (ASDs) in population-based families

1 reference

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Application of metaphase HR-CGH and targeted Chromosomal Microarray Analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features.

1 reference

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Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility

1 reference

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21 January 2018

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

The genetics of Tourette syndrome: a review.

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden

1 reference

https://api.crossref.org/works/10.1159%2F000332928

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Disrupted-in-Schizophrenia-1 (DISC-1): mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowth

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Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome

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Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome

1 reference

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Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations.

1 reference

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Phenotype mining in CNV carriers from a population cohort

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

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https://api.crossref.org/works/10.1159%2F000332928

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A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies

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https://api.crossref.org/works/10.1159%2F000332928

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Identifying human disease genes through cross-species gene mapping of evolutionary conserved processes

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https://api.crossref.org/works/10.1159%2F000332928

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Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome.

1 reference

https://api.crossref.org/works/10.1159%2F000332928

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Phenomic determinants of genomic variation in autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1159%2F000332928

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Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics

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

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https://api.crossref.org/works/10.1159%2F000332928

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Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Constitutional aneuploidy in the normal human brain.

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Network analysis of positional candidate genes of schizophrenia highlights myelin-related pathways

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

The UCLA-University of Utah epidemiologic survey of autism: recurrence risk estimates and genetic counseling

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Genetics of Early Onset Cognitive Impairment

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Array Comparative Genomic Hybridization Findings in a Cohort Referred for an Autism Evaluation

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Challenges and standards in integrating surveys of structural variation

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Homozygosity mapping in outbred families with mental retardation

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Large-scale copy number polymorphism in the human genome

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Strong association of de novo copy number mutations with autism

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Transcription factor haploinsufficiency: when half a loaf is not enough

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

The postsynaptic architecture of excitatory synapses: a more quantitative view

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Array comparative genomic hybridization in global developmental delay.

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Velo-cardio-facial syndrome: 30 Years of study

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

LINE-1 retrotransposons: mediators of somatic variation in neuronal genomes?

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Association within a family of a balanced autosomal translocation with major mental illness

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Large recurrent microdeletions associated with schizophrenia

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Tourette syndrome is associated with recurrent exonic copy number variants

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

New recommendations on autism spectrum disorder

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Prevalence of 22q11 microdeletion

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Fine-scale structural variation of the human genome

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Gene-network analysis identifies susceptibility genes related to glycobiology in autism

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Synapse pathology in psychiatric and neurologic disease

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Penetrance for copy number variants associated with schizophrenia

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Cellular reactions to gene dosage imbalance: genomic, transcriptomic and proteomic effects

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

A de novo paradigm for mental retardation.

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

A double hit implicates DIAPH3 as an autism risk gene.

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Recurrent CNVs disrupt three candidate genes in schizophrenia patients

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Dual DNA methylation patterns in the CNS reveal developmentally poised chromatin and monoallelic expression of critical genes

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Uptake of the necrotic serpin in Drosophila melanogaster via the lipophorin receptor-1

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

DNA copy-number analysis in bipolar disorder and schizophrenia reveals aberrations in genes involved in glutamate signaling.

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting.

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom.

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Analytical and clinical validity of whole-genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay.

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

CNV-seq, a new method to detect copy number variation using high-throughput sequencing

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Strong association of de novo copy number mutations with sporadic schizophrenia

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Aneuploidy and confined chromosomal mosaicism in the developing human brain.

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Unexplained autism is frequently associated with low-level mosaic aneuploidy.

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

The schizophrenia brain exhibits low-level aneuploidy involving chromosome 1.

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Singleton deletions throughout the genome increase risk of bipolar disorder

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Copy number variation in human health, disease, and evolution

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms.

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

A unified genetic theory for sporadic and inherited autism

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Postnatal Neurodevelopmental Disorders: Meeting at the Synapse?

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation

1 reference

https://api.crossref.org/works/10.1159%2F000332928

21 January 2018

Identifiers

10.1159/000332928

1 reference

Europe PubMed Central

PubMed publication ID

25 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

25 August 2017

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