(Q50345700)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24339137%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

Sequence analysis of 17 NRXN1 deletions (English)

1 reference

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3 March 2020

2

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3 March 2020

Niels Tommerup

7

1 reference

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3 March 2020

George Kirov

8

1 reference

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3 March 2020

Johan Hilge Thygesen

5

1 reference

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3 March 2020

Rikke S Møller

6

1 reference

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3 March 2020

Lars A Larsen

10

1 reference

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3 March 2020

author name string

Louise Kristine Enggaard Hoeffding

1

1 reference

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3 March 2020

Andrés Ingason

3

1 reference

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3 March 2020

Linh Doung

4

1 reference

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3 March 2020

Dan Rujescu

9

1 reference

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3 March 2020

Thomas Werge

11

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3 March 2020

publication date

25 September 2013

1 reference

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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

3 March 2020

published in

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3 March 2020

volume

165B

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3 March 2020

issue

1

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3 March 2020

page(s)

52-61

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Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

3 March 2020

cites work

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Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

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

21 January 2018

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Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

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Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

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Genomic rearrangements in inherited disease and cancer

21 January 2018

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Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs

21 January 2018

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Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

21 January 2018

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Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

21 January 2018

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A map of human genome variation from population-scale sequencing

21 January 2018

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

21 January 2018

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A microhomology-mediated break-induced replication model for the origin of human copy number variation

21 January 2018

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Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness

21 January 2018

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

21 January 2018

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Rare chromosomal deletions and duplications increase risk of schizophrenia

21 January 2018

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Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.

21 January 2018

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Disruption of neurexin 1 associated with autism spectrum disorder

21 January 2018

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Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

21 January 2018

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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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A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

21 January 2018

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

21 January 2018

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Genome-wide association study of multiplex schizophrenia pedigrees.

21 January 2018

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The mechanism of human nonhomologous DNA end joining

21 January 2018

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Structural variation of chromosomes in autism spectrum disorder

21 January 2018

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Microduplications of 16p11.2 are associated with schizophrenia

21 January 2018

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MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings

21 January 2018

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Mapping copy number variation by population-scale genome sequencing

21 January 2018

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Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy

21 January 2018

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Microdeletions of 3q29 confer high risk for schizophrenia

21 January 2018

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Analysis of 22 deletion breakpoints in dystrophin intron 49.

21 January 2018

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Mechanisms of DNA double-strand break repair and their potential to induce chromosomal aberrations

21 January 2018

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Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

21 January 2018

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Alternative end-joining is suppressed by the canonical NHEJ component Xrcc4-ligase IV during chromosomal translocation formation

21 January 2018

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Genome architecture, rearrangements and genomic disorders

21 January 2018

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Large recurrent microdeletions associated with schizophrenia

21 January 2018

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Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene.

21 January 2018

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Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

21 January 2018

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Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

21 January 2018

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21 January 2018

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21 January 2018

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The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

21 January 2018

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Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability

21 January 2018

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21 January 2018

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Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms

21 January 2018

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