Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications (Q38616673)

4 September 2017

title

Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications (English)

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neurodevelopmental disorder

4 September 2017

main subject

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3

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4 September 2017

Fátima Torres

1

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4 September 2017

Mafalda Barbosa

series ordinal

2

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4 September 2017

language of work or name

English

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publication date

26 October 2015

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Journal of Medical Genetics

4 September 2017

published in

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4 September 2017

volume

53

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4 September 2017

issue

2

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4 September 2017

page(s)

73-90

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103366

4 September 2017

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Schizophrenia as a disorder of neurodevelopment

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The genetic variability and commonality of neurodevelopmental disease

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Most genetic risk for autism resides with common variation

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Global variation in copy number in the human genome

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Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis

21 January 2018

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Global increases in both common and rare copy number load associated with autism

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A copy number variation morbidity map of developmental delay

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Rare copy number variants are an important cause of epileptic encephalopathies

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Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

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Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder

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

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

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Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3.

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Relative impact of nucleotide and copy number variation on gene expression phenotypes

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Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions

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Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders.

21 January 2018

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Analysis of copy number variations in brain DNA from patients with schizophrenia and other psychiatric disorders

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Comprehensive survey of CNVs influencing gene expression in the human brain and its implications for pathophysiology

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

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An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

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Large recurrent microdeletions associated with schizophrenia

21 January 2018

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

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Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications

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Analysis of copy number variations at 15 schizophrenia-associated loci.

21 January 2018

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Microdeletions of 3q29 confer high risk for schizophrenia

21 January 2018

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

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

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Estimates of penetrance for recurrent pathogenic copy-number variations

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

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Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

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Genetic counseling for susceptibility loci and neurodevelopmental disorders: the del15q11.2 as an example.

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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

21 January 2018

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

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Recurrent 16p11.2 microdeletions in autism

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

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Implication of a rare deletion at distal 16p11.2 in schizophrenia

21 January 2018

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Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.

21 January 2018

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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.

21 January 2018

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Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

21 January 2018

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

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Disruption of neurexin 1 associated with autism spectrum disorder

21 January 2018

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Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci

21 January 2018

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Neurexin 1 (NRXN1) deletions in schizophrenia

21 January 2018

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Refining analyses of copy number variation identifies specific genes associated with developmental delay

21 January 2018

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Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome

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Disruption of contactin 4 in three subjects with autism spectrum disorder

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Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

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

21 January 2018

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Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia

21 January 2018

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Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

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AMP-activated protein kinase phosphorylates retinoblastoma protein to control mammalian brain development

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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

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Novel rare variants in F-box protein 45 (FBXO45) in schizophrenia.

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Genetically complex epilepsies, copy number variants and syndrome constellations

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Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies

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Functional characterization of NIPA2, a selective Mg2+ transporter

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NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy

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Delineation of 15q13.3 microdeletions.

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The human clinical phenotypes of altered CHRNA7 copy number

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Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype.

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From toxins targeting ligand gated ion channels to therapeutic molecules

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Maximizing the effect of an α7 nicotinic receptor PAM in a mouse model of schizophrenia-like sensory inhibition deficits.

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The interaction between maternal immune activation and alpha 7 nicotinic acetylcholine receptor in regulating behaviors in the offspring

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Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism

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On the role of FAN1 in Fanconi anemia

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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

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Microduplications of 16p11.2 are associated with schizophrenia

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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

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Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families

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Large, rare chromosomal deletions associated with severe early-onset obesity

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Neuronal SH2B1 is essential for controlling energy and glucose homeostasis

21 January 2018

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Critical role of the Src homology 2 (SH2) domain of neuronal SH2B1 in the regulation of body weight and glucose homeostasis in mice.

21 January 2018

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

21 January 2018

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Genome-wide analysis of rare copy number variations reveals PARK2 as a candidate gene for attention-deficit/hyperactivity disorder

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

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The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis

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Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]

21 January 2018

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Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.

21 January 2018

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A common molecular basis for rearrangement disorders on chromosome 22q11

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The 22q11 deletion syndromes

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The 22q11.2 microdeletion: fifteen years of insights into the genetic and neural complexity of psychiatric disorders

21 January 2018

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Genetic, developmental, and physical factors associated with attention deficit hyperactivity disorder in patients with velocardiofacial syndrome.

21 January 2018

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Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome

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The 22q11.2 deletion syndrome as a window into complex neuropsychiatric disorders over the lifespan.

21 January 2018

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Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.

21 January 2018

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Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

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Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?--Report of two families.

21 January 2018

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Microduplication 22q11.2: a new chromosomal syndrome

21 January 2018

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Evidence that duplications of 22q11.2 protect against schizophrenia

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Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development

21 January 2018

1 reference

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Role of TBX1 in human del22q11.2 syndrome

21 January 2018

1 reference

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Site-specific role of catechol-O-methyltransferase in dopamine overflow within prefrontal cortex and dorsal striatum

21 January 2018

1 reference

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Dopamine in socioecological and evolutionary perspectives: implications for psychiatric disorders

21 January 2018

1 reference

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Association between a functional catechol O-methyltransferase gene polymorphism and schizophrenia: meta-analysis of case-control and family-based studies

21 January 2018

1 reference

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PRODH mutations and hyperprolinemia in a subset of schizophrenic patients

21 January 2018

1 reference

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Transcriptional and behavioral interaction between 22q11.2 orthologs modulates schizophrenia-related phenotypes in mice

21 January 2018

1 reference

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Proline affects brain function in 22q11DS children with the low activity COMT 158 allele

21 January 2018

1 reference

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Copy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders

21 January 2018

1 reference

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Penetrance for copy number variants associated with schizophrenia.

21 January 2018

1 reference

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The penetrance of copy number variations for schizophrenia and developmental delay.

21 January 2018

1 reference

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Animal models of psychiatric disorders that reflect human copy number variation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103366

Mutant mouse models of autism spectrum disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103366

Animal models of human disease: zebrafish swim into view

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103366

Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders

21 January 2018

1 reference

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iPSCs and small molecules: a reciprocal effort towards better approaches for drug discovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103366

Haploinsufficiency of Cyfip1 produces fragile X-like phenotypes in mice

21 January 2018

1 reference

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A mouse model that recapitulates cardinal features of the 15q13.3 microdeletion syndrome including schizophrenia- and epilepsy-related alterations

21 January 2018

1 reference

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Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism

21 January 2018

1 reference

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Neuropathologic features in adults with 22q11.2 deletion syndrome.

21 January 2018

1 reference

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Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome

21 January 2018

1 reference

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Cxcr4 regulation of interneuron migration is disrupted in 22q11.2 deletion syndrome.

21 January 2018

1 reference

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Evidence for altered hippocampal function in a mouse model of the human 22q11.2 microdeletion

21 January 2018

1 reference

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The pattern of cortical dysfunction in a mouse model of a schizophrenia-related microdeletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103366

Derepression of a neuronal inhibitor due to miRNA dysregulation in a schizophrenia-related microdeletion

21 January 2018

1 reference

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Neuroanatomical phenotypes in a mouse model of the 22q11.2 microdeletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103366

The human brain in a dish: the promise of iPSC-derived neurons

21 January 2018

1 reference

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Induction of pluripotent stem cells from adult human fibroblasts by defined factors

21 January 2018

1 reference

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Optimizing neuronal differentiation from induced pluripotent stem cells to model ASD

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103366

Phenotypic differences in hiPSC NPCs derived from patients with schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103366

Modelling schizophrenia using human induced pluripotent stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103366

Modeling psychiatric disorders through reprogramming

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103366

Understanding variable expressivity in microdeletion syndromes.

21 January 2018

1 reference

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103366

Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103366

CNVs conferring risk of autism or schizophrenia affect cognition in controls

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103366

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103366

10.1136/JMEDGENET-2015-103366

21 January 2018

Identifiers

DOI

1 reference

4 September 2017

1 reference