(Q36403958)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617343%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617343%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

2

1 reference

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2 February 2020

23

Pawel Stankiewicz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617343%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

author name string

Christian P Schaaf

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617343%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Srirangan Sampath

3

1 reference

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2 February 2020

Charles Williams

4

1 reference

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2 February 2020

Patricia I Bader

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617343%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Jennifer M Mueller

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617343%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Oleg A Shchelochkov

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617343%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Chester W Brown

8

1 reference

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2 February 2020

Heather P Crawford

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617343%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

James A Phalen

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617343%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Nicole R Tartaglia

11

1 reference

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2 February 2020

Patricia Evans

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617343%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

William M Campbell

13

1 reference

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2 February 2020

Anne Chun-Hui Tsai

14

1 reference

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2 February 2020

Lea Parsley

15

1 reference

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2 February 2020

Stephanie W Grayson

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617343%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Angela Scheuerle

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617343%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Carol D Luzzi

18

1 reference

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2 February 2020

Sandra K Thomas

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617343%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Patricia A Eng

20

1 reference

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2 February 2020

Sung-Hae L Kang

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617343%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Ankita Patel

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617343%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Sau W Cheung

24

1 reference

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2 February 2020

publication date

23 May 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617343%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

2 February 2020

published in

1 reference

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2 February 2020

volume

20

1 reference

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2 February 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617343%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

page(s)

1240-1247

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617343%20AND%20SRC:MED&resulttype=core&format=json

De novo rates and selection of schizophrenia-associated copy number variants

2 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

Autism spectrum disorders--a genetics review

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

Detection of clinically relevant exonic copy-number changes by array CGH.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

Neurexin 1 (NRXN1) deletions in schizophrenia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

A genome-wide investigation of SNPs and CNVs in schizophrenia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

Disruption of the neurexin 1 gene is associated with schizophrenia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

Recurrent CNVs disrupt three candidate genes in schizophrenia patients

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

Significant association of the neurexin-1 gene (NRXN1) with nicotine dependence in European- and African-American smokers

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

Structural variation of chromosomes in autism spectrum disorder

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

Disruption of neurexin 1 associated with autism spectrum disorder

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

Neurexin-neuroligin signaling in synapse development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

Novel genes identified in a high-density genome wide association study for nicotine dependence

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

A genome-wide scanning and fine mapping study of COGA data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

Neuroligins and neurexins: linking cell adhesion, synapse formation and cognitive function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

Synaptic cell adhesion goes functional

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

Analysis of the human neurexin genes: alternative splicing and the generation of protein diversity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

CDC growth charts: United States

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

Neurexins: three genes and 1001 products

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

Extracellular domains of alpha-neurexins participate in regulating synaptic transmission by selectively affecting N- and P/Q-type Ca2+ channels.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

The expression and alternative splicing of alpha-neurexins during Xenopus development

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499754

Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22617343

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2012.95

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617343%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617343%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

PubMed publication ID

22617343

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22617343%20AND%20SRC:MED&resulttype=core&format=json