(Q35923213)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22521361%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22521361%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1 reference

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29 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22521361%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22521361%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Stephan Ripke

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22521361%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Benjamin Neale

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22521361%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Mark J Daly

1 reference

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29 January 2020

Jill A Rosenfeld

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22521361%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

James F Gusella

1 reference

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29 January 2020

Carrie Hanscom

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22521361%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Amelia M Lindgren

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22521361%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Cynthia C Morton

1 reference

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29 January 2020

Lisa G Shaffer

1 reference

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29 January 2020

Adrian Heilbut

1 reference

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29 January 2020

Andrew Kirby

1 reference

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29 January 2020

Mark L Borowsky

1 reference

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29 January 2020

Ian Blumenthal

1 reference

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29 January 2020

Shahrin Pereira

1 reference

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29 January 2020

Vamsee K Pillalamarri

object named as

Vamsee Pillalamarri

1 reference

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29 January 2020

Diane Lucente

1 reference

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29 January 2020

Judith Miles

1 reference

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29 January 2020

Andrea L Gropman

1 reference

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29 January 2020

Carl Ernst

1 reference

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29 January 2020

Elizabeth Rossin

1 reference

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29 January 2020

David J Harris

1 reference

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29 January 2020

Ji-Hyun Lee

1 reference

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29 January 2020

Kyungsoo Ha

1 reference

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29 January 2020

Hyung-Goo Kim

1 reference

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29 January 2020

Benjamin D Solomon

1 reference

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29 January 2020

Katherine Sims

1 reference

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29 January 2020

Toshiro K Ohsumi

1 reference

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29 January 2020

Stephanie Loranger

1 reference

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29 January 2020

Bradley Quade

1 reference

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29 January 2020

Kasper Lage

1 reference

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29 January 2020

Bai-Lin Wu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22521361%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Yiping Shen

1 reference

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29 January 2020

language of work or name

English

0 references

publication date

19 April 2012

1 reference

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29 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22521361%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

volume

149

1 reference

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29 January 2020

issue

1 reference

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29 January 2020

page(s)

525-537

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22521361%20AND%20SRC:MED&resulttype=core&format=json

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

29 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Genome-wide translocation sequencing reveals mechanisms of chromosome breaks and rearrangements in B cells

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Translocation-capture sequencing reveals the extent and nature of chromosomal rearrangements in B lymphocytes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

A copy number variation morbidity map of developmental delay

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Neurodevelopmental hypothesis of schizophrenia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

PDE10A inhibitors: novel therapeutic drugs for schizophrenia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Massive genomic rearrangement acquired in a single catastrophic event during cancer development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Psychosis susceptibility gene ZNF804A and cognitive performance in schizophrenia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

TCF4, schizophrenia, and Pitt-Hopkins Syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

A genome-wide linkage and association scan reveals novel loci for autism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Analysis of a t(18;21)(p11.1;p11.1) translocation in a family with schizophrenia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Common genetic variants on 5p14.1 associate with autism spectrum disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

The chromatin remodeling factor CHD8 interacts with elongating RNA polymerase II and controls expression of the cyclin E2 gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

CHD8 suppresses p53-mediated apoptosis through histone H1 recruitment during early embryogenesis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Identification of loci associated with schizophrenia by genome-wide association and follow-up

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Structural variation of chromosomes in autism spectrum disorder

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Is schizophrenia a neurodevelopmental disorder?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Quantitative comparison of phosphodiesterase mRNA distribution in human brain and peripheral tissues

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Expression of mKirre in the developing sensory pathways: its close apposition to nephrin-expressing cells.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

A neuronal identity code for the odorant receptor-specific and activity-dependent axon sorting

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Prevalence of chromosomal abnormalities in phenotypically normal and fertile adult males: large-scale survey of over 10,000 sperm donor karyotypes.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

Expression of mKirre, a mammalian homolog of Drosophila kirre, in the developing and adult mouse brain.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340505

WikiPathways: pathway editing for the people

24 September 2018

1 reference

7 July 2022

https://opencitations.net/index/coci/api/v1/citations/10.1371/JOURNAL.PBIO.0060184

Identifiers

DOI

10.1016/J.CELL.2012.03.028

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22521361%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22521361%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

PubMed publication ID

22521361

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22521361%20AND%20SRC:MED&resulttype=core&format=json