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Rare deletions at the neurexin 3 locus in autism spectrum disorder
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title
Rare deletions at the neurexin 3 locus in autism spectrum disorder
(English)
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main subject
autism spectrum disorder
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autism
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Neurexin 3
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stated in
GOA release 2020-03-11
vocalization behavior
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stated in
GOA release 2020-03-11
author
Lonnie Zwaigenbaum
series ordinal
19
object named as
Lonnie Zwaigenbaum
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Peter Szatmari
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26
object named as
Peter Szatmari
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Éric Fombonne
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21
object named as
Eric Fombonne
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Stephen W. Scherer
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27
object named as
Stephen W Scherer
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McKinsey Goodenberger
object named as
McKinsey Goodenberger
series ordinal
4
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Quinn Stein
object named as
Quinn P Stein
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5
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Aparna Prasad
object named as
Aparna Prasad
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14
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Dalila Pinto
object named as
Dalila Pinto
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16
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Jennelle C. Hodge
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24
object named as
Jennelle C Hodge
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Wendy Roberts
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25
object named as
Wendy Roberts
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Anath C. Lionel
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2
object named as
Anath C Lionel
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Bridget A. Fernandez
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20
object named as
Bridget A Fernandez
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Christian Marshall
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17
object named as
Christian R Marshall
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Irene Drmic
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9
object named as
Irene Drmic
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Lili Senman
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10
object named as
Lili Senman
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Andrea K Vaags
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1
object named as
Andrea K Vaags
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Joo Wook Ahn
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8
object named as
Joo Wook Ahn
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author name string
Daisuke Sato
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3
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Sarah Curran
series ordinal
6
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Caroline Ogilvie
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7
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Christina Chrysler
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11
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Ann Thompson
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12
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Carolyn Russell
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13
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Susan Walker
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15
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Dimitri J Stavropoulos
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18
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Patrick F Bolton
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22
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David A Collier
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23
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language of work or name
English
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publication date
13 January 2012
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published in
American Journal of Human Genetics
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volume
90
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page(s)
133-41
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issue
1
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cites work
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Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability
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CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila
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Mouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
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19 March 2017
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation
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19 March 2017
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
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PubMed Central
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19 March 2017
Disruption of the neurexin 1 gene is associated with schizophrenia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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19 March 2017
Neuroligins and neurexins link synaptic function to cognitive disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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19 March 2017
Rare chromosomal deletions and duplications increase risk of schizophrenia
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19 March 2017
Structural variation of chromosomes in autism spectrum disorder
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PubMed Central
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19 March 2017
Disruption of neurexin 1 associated with autism spectrum disorder
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PubMed Central
reference URL
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19 March 2017
Contribution of SHANK3 mutations to autism spectrum disorder
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PubMed Central
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19 March 2017
Strong association of de novo copy number mutations with autism
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PubMed Central
reference URL
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19 March 2017
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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19 March 2017
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia
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PubMed Central
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19 March 2017
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
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PubMed Central
reference URL
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19 March 2017
Copy-number variations associated with neuropsychiatric conditions
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PubMed Central
reference URL
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19 March 2017
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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19 March 2017
Detection of large-scale variation in the human genome
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PubMed Central
reference URL
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19 March 2017
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
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PubMed Central
reference URL
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19 March 2017
Association between microdeletion and microduplication at 16p11.2 and autism
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PubMed Central
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19 March 2017
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia
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PubMed Central
reference URL
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19 March 2017
Structure and evolution of neurexin genes: insight into the mechanism of alternative splicing
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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19 March 2017
Analysis of the human neurexin genes: alternative splicing and the generation of protein diversity
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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19 March 2017
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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19 March 2017
Hotspots of large rare deletions in the human genome
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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19 March 2017
Alpha-neurexins couple Ca2+ channels to synaptic vesicle exocytosis
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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19 March 2017
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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24 March 2017
Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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7 April 2017
Integrating common and rare genetic variation in diverse human populations
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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7 April 2017
Risk factors for autism: translating genomic discoveries into diagnostics
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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27 September 2017
Key role for gene dosage and synaptic homeostasis in autism spectrum disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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27 September 2017
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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27 September 2017
Tourette syndrome is associated with recurrent exonic copy number variants
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
retrieved
27 September 2017
Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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27 September 2017
Clinical genetic testing for patients with autism spectrum disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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27 September 2017
The clinical context of copy number variation in the human genome
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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27 September 2017
A genome-wide association study of alcohol dependence
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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27 September 2017
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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27 September 2017
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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27 September 2017
Population analysis of large copy number variants and hotspots of human genetic disease
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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27 September 2017
Singleton deletions throughout the genome increase risk of bipolar disorder
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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27 September 2017
Recurrent CNVs disrupt three candidate genes in schizophrenia patients
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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27 September 2017
Failure of neuronal homeostasis results in common neuropsychiatric phenotypes
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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27 September 2017
Germ-line DNA copy number variation frequencies in a large North American population
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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27 September 2017
Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome.
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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27 September 2017
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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27 September 2017
PopGen: population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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27 September 2017
Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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29 November 2018
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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29 November 2018
Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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29 November 2018
Kinesin family member 6 variant Trp719Arg does not associate with angiographically defined coronary artery disease in the Ottawa Heart Genomics Study.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
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29 November 2018
Cartography of neurexins: more than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257896
retrieved
29 November 2018
Identifiers
DOI
10.1016/J.AJHG.2011.11.025
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PMCID
3257896
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PubMed ID
22209245
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ResearchGate publication ID
51972582
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