(Q33740241)

29 July 2017

title

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia (English)

1 reference

29 July 2017

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia (English)

1 reference

Crossref

https://api.crossref.org/works/10.1016/J.AJHG.2010.10.004

21 August 2024

0 references

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21055719

21 August 2024

sequence deletion

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21055719

DNA copy number variations

21 August 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21055719

21 August 2024

author

Daniel Moreno-De-Luca

1

object named as

Daniel Moreno-De-Luca

0 references

Christa Lese Martin

37

object named as

Christa L Martin

1 reference

29 July 2017

38

David H Ledbetter

1 reference

29 July 2017

3

Jennifer G. Mulle

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21055719

21 August 2024

6

Stephan J. Sanders

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21055719

21 August 2024

23

Swaroop Aradhya

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21055719

21 August 2024

author name string

SGENE Consortium

2

1 reference

29 July 2017

Simons Simplex Collection Genetics Consortium

4

1 reference

29 July 2017

GeneSTAR

7

1 reference

29 July 2017

Kim Uhas

12

1 reference

29 July 2017

LuAnn Weik

13

1 reference

29 July 2017

Lisa Guy

14

1 reference

29 July 2017

Charlotte Boni

17

1 reference

29 July 2017

Bonnie Anne Salbert

18

1 reference

29 July 2017

Ashadeep Chandrareddy

19

1 reference

29 July 2017

Urvashi Surti

22

1 reference

29 July 2017

Emily Aston

27

1 reference

29 July 2017

Todd Ackley

31

1 reference

29 July 2017

Ram Iyer

32

1 reference

29 July 2017

Shuwen Huang

33

1 reference

29 July 2017

Erin B. Kaminsky

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21055719

21 August 2024

Scott M. Myers

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21055719

21 August 2024

Margaret P. Adam

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21055719

21 August 2024

Amy T. Pakula

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21055719

21 August 2024

Nancy J. Eisenhauer

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21055719

21 August 2024

Melanie E. Care

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21055719

21 August 2024

Chantal F. Morel

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21055719

21 August 2024

Laurie A. Demmer

20

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21 August 2024

Eva W. C. Chow

21

1 reference

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21 August 2024

Diane L. Pickering

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21055719

21 August 2024

Denae M. Golden

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21055719

21 August 2024

Warren G. Sanger

26

1 reference

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21 August 2024

Arthur R. Brothman

28

1 reference

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21 August 2024

Troy J. Gliem

29

1 reference

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21 August 2024

Erik C. Thorland

30

1 reference

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21 August 2024

John C. Barber

34

1 reference

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21 August 2024

John A. Crolla

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21055719

21 August 2024

Stephen T. Warren

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21055719

21 August 2024

language of work or name

English

0 references

publication date

4 November 2010

1 reference

full work available at URL

29 July 2017

http://www.cell.com/article/S0002929710005203/pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21055719

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21055719/pdf/?tool=EBI

21 August 2024

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21055719

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21055719/?tool=EBI

21 August 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21055719

https://europepmc.org/articles/PMC2978962

21 August 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21055719

https://europepmc.org/articles/PMC2978962?pdf=render

21 August 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21055719

https://doi.org/10.1016/j.ajhg.2010.10.004

21 August 2024

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21055719

https://api.elsevier.com/content/article/PII:S0002929710005203?httpAccept=text/xml

21 August 2024

1 reference

Crossref

https://api.crossref.org/works/10.1016/J.AJHG.2010.10.004

https://api.elsevier.com/content/article/PII:S0002929710005203?httpAccept=text/plain

21 August 2024

1 reference

Crossref

https://api.crossref.org/works/10.1016/J.AJHG.2010.10.004

American Journal of Human Genetics

21 August 2024

published in

1 reference

29 July 2017

volume

87

1 reference

29 July 2017

issue

5

1 reference

29 July 2017

page(s)

618-630

1 reference

Microdeletions of 3q29 confer high risk for schizophrenia

29 July 2017

cites work

1 reference

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Clinically detectable copy number variations in a Canadian catchment population of schizophrenia

21 June 2018

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Functional impact of global rare copy number variation in autism spectrum disorders

21 June 2018

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Strong synaptic transmission impact by copy number variations in schizophrenia

21 June 2018

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

21 June 2018

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Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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Microduplications of 16p11.2 are associated with schizophrenia

21 June 2018

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Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

21 June 2018

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21 June 2018

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Common variants on chromosome 6p22.1 are associated with schizophrenia

21 June 2018

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Common variants conferring risk of schizophrenia

21 June 2018

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Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

21 June 2018

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Transcriptional control of axonal guidance and sorting in dorsal interneurons by the Lim-HD proteins Lhx9 and Lhx1.

21 June 2018

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Segmental duplications mediate novel, clinically relevant chromosome rearrangements

21 June 2018

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

21 June 2018

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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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21 June 2018

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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

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21 June 2018

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

21 June 2018

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Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

21 June 2018

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PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

21 June 2018

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Epidemiology of schizophrenia: review of findings and myths

21 June 2018

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21 June 2018

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A genetic risk factor for periodic limb movements in sleep

21 June 2018

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Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly

21 June 2018

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Autism and cytogenetic abnormalities: solving autism one chromosome at a time

21 June 2018

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QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

21 June 2018

1 reference

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The genetics of mental retardation

21 June 2018

1 reference

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3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome

21 June 2018

1 reference

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Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates

21 June 2018

1 reference

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Evidence for sex-specific risk alleles in autism spectrum disorder

21 June 2018

1 reference

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Detection of large-scale variation in the human genome

21 June 2018

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A genomewide screen of 345 families for autism-susceptibility loci

21 June 2018

1 reference

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Statistical aspects of the analysis of data from retrospective studies of disease

21 June 2018

1 reference

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Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations

21 June 2018

1 reference

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A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p.

21 June 2018

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Genome-wide scan for schizophrenia in the Finnish population: evidence for a locus on chromosome 7q22

21 June 2018

1 reference

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A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta

21 June 2018

1 reference

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Requirement for Lim1 in head-organizer function

21 June 2018

1 reference

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Contiguous gene syndromes: a component of recognizable syndromes

21 June 2018

1 reference

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A polydiagnostic application of operational criteria in studies of psychotic illness. Development and reliability of the OPCRIT system

21 June 2018

1 reference

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Research diagnostic criteria: rationale and reliability

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978962

Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978962

Schizophrenia: genome, interrupted

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978962

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978962

A comparison of symptoms and family history in schizophrenia with and without prior cannabis use: implications for the concept of cannabis psychosis.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978962

High density SNP association study of a major autism linkage region on chromosome 17.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978962

Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion).

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978962

A complex phenotype with cystic renal disease.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978962

DSM-IV mood-, anxiety- and alcohol use disorders and their comorbidity in the Finnish general population--results from the Health 2000 Study

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978962

Episodic memory in schizophrenic patients and their relatives.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978962

Genomic imbalances associated with mullerian aplasia

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978962

Genome-wide scan in a nationwide study sample of schizophrenia families in Finland reveals susceptibility loci on chromosomes 2q and 5q

30 October 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/21055719

12 December 2020

Further evidence that congenital dermatoglyphic abnormalities are associated with psychosis: a twin study

1 reference

https://pubmed.ncbi.nlm.nih.gov/21055719

12 December 2020

Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5

1 reference

https://pubmed.ncbi.nlm.nih.gov/21055719

12 December 2020

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

1 reference

https://pubmed.ncbi.nlm.nih.gov/21055719

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21055719

12 December 2020

Schizophrenia in the genetic isolate of Finland

1 reference

https://pubmed.ncbi.nlm.nih.gov/21055719

12 December 2020

Identifiers

1 reference

29 July 2017

1 reference

29 July 2017

1 reference