(Q36384798)

13 August 2017

Copy number variations and cognitive phenotypes in unselected populations (English)

1 reference

13 August 2017

2

1 reference

13 August 2017

16

1 reference

13 August 2017

25

1 reference

13 August 2017

15

Alexander Teumer

0 references

Andres Metspalu

26

Andres Metspalu

0 references

Zoltán Kutalik

23

Zoltán Kutalik

1 reference

13 August 2017

24

Nathan Pankratz

0 references

Anne M Maillard

Anne M Maillard

7

0 references

Tom R. Gaunt

Tom R Gaunt

20

0 references

Jacques S Beckmann

Jacques S Beckmann

21

0 references

Alexandre Reymond

27

Alexandre Reymond

1 reference

13 August 2017

Anna L Guyatt

5

0 references

Evelin Mihailov

11

Evelin Mihailov

1 reference

13 August 2017

18

Matt McGue

1 reference

13 August 2017

19

William G Iacono

1 reference

13 August 2017

17

Daniele Cusi

1 reference

13 August 2017

1

Katrin Männik

1 reference

13 August 2017

3

Aurélien Macé

1 reference

13 August 2017

6

Hashem A Shihab

1 reference

13 August 2017

8

Helene Alavere

1 reference

13 August 2017

9

Anneli Kolk

1 reference

13 August 2017

10

Anu Reigo

1 reference

13 August 2017

12

Liis Leitsalu

1 reference

13 August 2017

13

Anne-Maud Ferreira

1 reference

13 August 2017

14

Margit Nõukas

1 reference

13 August 2017

22

Sébastien Jacquemont

1 reference

13 August 2017

Ben Cole

4

1 reference

PMCID

4684269

13 August 2017

language of work or name

English

0 references

publication date

1 May 2015

1 reference

The Journal of the American Medical Association

13 August 2017

1 reference

13 August 2017

313

1 reference

13 August 2017

20

1 reference

13 August 2017

2044-2054

1 reference

Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949).

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Defining the role of common variation in the genomic and biological architecture of adult human height

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Genetic variation associated with differential educational attainment in adults has anticipated associations with school performance in children

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

A higher mutational burden in females supports a "female protective model" in neurodevelopmental 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=4684269

Cohort Profile: Estonian Biobank of the Estonian Genome Center, University of Tartu

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Low-Frequency Copy-Number Variants and General Cognitive Ability: No Evidence of Association

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

CNVs conferring risk of autism or schizophrenia affect cognition in controls

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Transmission disequilibrium of small CNVs in simplex autism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

GWAS of 126,559 individuals identifies genetic variants associated with educational attainment

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

No effect of genome-wide copy number variation on measures of intelligence in a New Zealand birth cohort.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric 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=4684269

DECIPHER: web-based, community resource for clinical interpretation of rare variants in 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=4684269

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Cohort profile: the 'children of the 90s'—the index offspring of the Avon Longitudinal Study of Parents and Children

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Reconsidering the heritability of intelligence in adulthood: taking assortative mating and cultural transmission into account

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Exome sequencing as a tool for Mendelian disease gene discovery

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

A copy number variation morbidity map of developmental delay

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Phenotype mining in CNV carriers from a population cohort

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Mapping and analysis of chromatin state dynamics in nine human cell types

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Prevalence of intellectual disability: a meta-analysis of population-based studies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Copy number variation modifies expression time courses

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Characterising and predicting haploinsufficiency in the human genome.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Ohnologs in the human genome are dosage balanced and frequently associated with disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

The neuroscience of human intelligence differences

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Microduplications of 16p11.2 are 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=4684269

Origins and functional impact of copy number variation in the human genome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

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=4684269

Genetic structure of Europeans: a view from the North-East

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Copy number variants, diseases and gene expression

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping 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=4684269

Side effects of genome structural changes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Relative impact of nucleotide and copy number variation on gene expression phenotypes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

The environments of adopted and non-adopted youth: evidence on range restriction from the Sibling Interaction and Behavior Study (SIBS)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

30 September 2017

The heritability of IQ

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Increased female autosomal burden of rare copy number variants in human populations and in autism families.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

No association between general cognitive ability and rare copy number variation

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

28 June 2018

Genetics. Herit-ability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Segmental copy number variation shapes tissue transcriptomes.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Behavioral disinhibition and the development of substance-use disorders: findings from the Minnesota Twin Family Study.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684269

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26010633

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/JAMA.2015.4845

1 reference

release_63zufbg3uzhyzkqqmcu7uupndy

13 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/63zufbg3uzhyzkqqmcu7uupndy

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

4684269

1 reference

13 August 2017

1 reference

PMCID

4684269