(Q33587483)

28 July 2017

title

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

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28 July 2017

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12

Stefan Schreiber

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28 July 2017

1

Heather C Mefford

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28 July 2017

17

Evan E Eichler

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28 July 2017

7

Andre Franke

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28 July 2017

5

Karen Buysse

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28 July 2017

2

Hiltrud Muhle

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28 July 2017

14

Michel Guipponi

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28 July 2017

Philipp Ostertag

3

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28 July 2017

Sarah von Spiczak

4

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28 July 2017

Carl Baker

6

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28 July 2017

Alain Malafosse

8

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28 July 2017

Pierre Genton

9

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28 July 2017

Pierre Thomas

10

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28 July 2017

Christina A Gurnett

11

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28 July 2017

Alexander G Bassuk

13

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28 July 2017

Ulrich Stephani

15

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28 July 2017

Ingo Helbig

16

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28 July 2017

publication date

20 May 2010

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28 July 2017

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28 July 2017

volume

6

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28 July 2017

issue

5

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28 July 2017

page(s)

e1000962

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Creative Commons Attribution 4.0 International

28 July 2017

copyright license

start time

20 May 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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

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

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A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

21 June 2018

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Microduplications of 16p11.2 are associated with schizophrenia

21 June 2018

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De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

21 June 2018

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

21 June 2018

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

21 June 2018

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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

21 June 2018

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Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

21 June 2018

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Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.

21 June 2018

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A genome-wide investigation of SNPs and CNVs in schizophrenia

21 June 2018

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

21 June 2018

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Population analysis of large copy number variants and hotspots of human genetic disease

21 June 2018

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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

21 June 2018

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A 15q13.3 microdeletion segregating with autism

21 June 2018

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

21 June 2018

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Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

21 June 2018

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

21 June 2018

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Large recurrent microdeletions associated with schizophrenia

21 June 2018

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Rare chromosomal deletions and duplications increase risk of schizophrenia

21 June 2018

1 reference

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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 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

Strong association of de novo copy number mutations with sporadic schizophrenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

Structural variation of chromosomes in autism spectrum disorder

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

Association between microdeletion and microduplication at 16p11.2 and autism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

Recurrent 16p11.2 microdeletions in autism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

Unsupervised segmentation of continuous genomic data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

Strong association of de novo copy number mutations with autism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

Global variation in copy number in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

Diagnostic genome profiling in mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

Recent segmental duplications in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

Descriptive epidemiology of epilepsy: contributions of population-based studies from Rochester, Minnesota

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873910

Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.

21 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000962

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000962

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000962

Atypical "benign" partial epilepsy of childhood or pseudo-lennox syndrome. Part II: family study

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000962

Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000962

Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13-14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000962

Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Willi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000962

Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000962

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000962

Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000962

10.1371/JOURNAL.PGEN.1000962

21 January 2018

Identifiers

DOI

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28 July 2017

1 reference

28 July 2017

1 reference