Relative burden of large CNVs on a range of neurodevelopmental phenotypes (Q34079175)

30 July 2017

title

Relative burden of large CNVs on a range of neurodevelopmental phenotypes (English)

1 reference

Margherita Cirillo Silengo

30 July 2017

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10

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30 July 2017

Marco Fichera

13

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Carlos S Moreno

object named as

Carlos S Moreno

12

0 references

Corrado Romano

object named as

Corrado Romano

14

0 references

Evan E. Eichler

16

object named as

Evan E Eichler

1 reference

30 July 2017

3

Bradley P Coe

1 reference

30 July 2017

1

Santhosh Girirajan

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30 July 2017

4

Carl Baker

1 reference

30 July 2017

7

Neil Shafer

1 reference

30 July 2017

2

Zoran Brkanac

1 reference

30 July 2017

Laura Vives

5

1 reference

30 July 2017

Tiffany H Vu

6

1 reference

30 July 2017

Raphael Bernier

8

1 reference

30 July 2017

Giovanni B Ferrero

9

1 reference

30 July 2017

Stephen T Warren

11

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30 July 2017

Wendy H Raskind

15

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30 July 2017

publication date

10 November 2011

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30 July 2017

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30 July 2017

volume

7

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30 July 2017

issue

11

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30 July 2017

page(s)

e1002334

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Creative Commons Attribution 4.0 International

30 July 2017

copyright license

start time

10 November 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

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28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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Strong association of de novo copy number mutations with autism

28 July 2018

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Mapping autism risk loci using genetic linkage and chromosomal rearrangements

28 July 2018

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Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213131

Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome.

28 July 2018

1 reference

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

28 July 2018

1 reference

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

28 July 2018

1 reference

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The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia

28 July 2018

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The World Mental Health (WMH) Survey Initiative Version of the World Health Organization (WHO) Composite International Diagnostic Interview (CIDI)

28 July 2018

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Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction

28 July 2018

1 reference

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A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain

28 July 2018

1 reference

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NIMH Human Genetics Initiative: 2003 update.

28 July 2018

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Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213131

Recent segmental duplications in the human genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213131

Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213131

Linkage and association of the glutamate receptor 6 gene with autism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213131

Effect of statin therapy on C-reactive protein levels: the pravastatin inflammation/CRP evaluation (PRINCE): a randomized trial and cohort study

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213131

28 July 2018

22q13 deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213131

The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213131

Two translocations of chromosome 15q associated with dyslexia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213131

Profound obesity associated with a balanced translocation that disrupts the SIM1 gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213131

Comorbidity of learning and attention disorders. Separate but equal

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213131

28 July 2018

The genetics of dyslexia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213131

Diagnostic genome profiling in mental retardation

28 July 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002334

Rare chromosomal deletions and duplications increase risk of schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002334

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002334

Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002334

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002334

Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002334

Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002334

3q29 interstitial microduplication: a new syndrome in a three-generation family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002334

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002334

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002334

A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002334

Etiology and neuropsychology of comorbidity between RD and ADHD: the case for multiple-deficit models

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002334

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002334

Disruption of neurexin 1 associated with autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002334

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

21 January 2018

1 reference

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A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002334

Phenotypic predictors of response to simvastatin therapy among African-Americans and Caucasians: the Cholesterol and Pharmacogenetics (CAP) Study

21 January 2018

1 reference

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Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002334

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213131

Twins with autism and mental retardation associated with balanced (7;20) chromosomal translocation

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213131

A Cohort of Balanced Reciprocal Translocations Associated with Dyslexia: Identification of Two Putative Candidate Genes at DYX1

28 October 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002334

10.1371/JOURNAL.PGEN.1002334

21 January 2018

Identifiers

DOI

1 reference

30 July 2017

1 reference

30 July 2017

1 reference