Guidelines for investigating causality of sequence variants in human disease (Q28655218)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Stilianos Antonarakis

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

S M Leal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

D G MacArthur

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

G R Abecasis

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

D R Adams

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

E A Ashley

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

L G Biesecker

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

D F Conrad

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

G M Cooper

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

N J Cox

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

D B Goldstein

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

J N Hirschhorn

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

L A Pennacchio

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

J A Stamatoyannopoulos

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

S R Sunyaev

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

D Valle

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

B F Voight

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

W Winckler

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

T A Manolio

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

M J Daly

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

M B Gerstein

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

language of work or name

English

0 references

publication date

24 April 2014

0 references

published in

Nature

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

508

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

issue

7497

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

page(s)

469-476

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported

31 May 2020

1 reference

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4180223

copyrighted

0 references

cites work

De novo mutations in epileptic encephalopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

The GENCODE v7 catalog of human long noncoding RNAs: analysis of their gene structure, evolution, and expression

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

GENCODE: the reference human genome annotation for The ENCODE Project

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

An integrated encyclopedia of DNA elements in the human genome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Patterns and rates of exonic de novo mutations in autism spectrum disorders

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Sharing research data to improve public health

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

A map of human genome variation from population-scale sequencing

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

A method and server for predicting damaging missense mutations

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Finding the missing heritability of complex diseases

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Reduced body weight is a common effect of gene knockout in mice

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

De Novo Gene Disruptions in Children on the Autistic Spectrum

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

A systematic survey of loss-of-function variants in human protein-coding genes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Exome sequencing as a tool for Mendelian disease gene discovery

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

A copy number variation morbidity map of developmental delay

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Replicating genotype-phenotype associations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Natural selection on protein-coding genes in the human genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Searching for missing heritability: designing rare variant association studies

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

ACMG clinical laboratory standards for next-generation sequencing

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Fine-scale patterns of population stratification confound rare variant association tests

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Sequencing studies in human genetics: design and interpretation.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

De novo mutations in histone-modifying genes in congenital heart disease.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Assuring the quality of next-generation sequencing in clinical laboratory practice

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

SimRare: a program to generate and analyze sequence-based data for association studies of quantitative and qualitative traits

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

De novo mutations in human genetic disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Exome sequencing and the genetic basis of complex traits

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Massively parallel functional dissection of mammalian enhancers in vivo

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Differential confounding of rare and common variants in spatially structured populations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

LOVD v.2.0: the next generation in gene variant databases

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Carrier testing for severe childhood recessive diseases by next-generation sequencing

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Forging links between human mental retardation-associated CNVs and mouse gene knockout models

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

A large-scale analysis of tissue-specific pathology and gene expression of human disease genes and complexes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Disease gene discovery through integrative genomics

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Lack of MEF2A mutations in coronary artery disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Dobzhansky-Muller incompatibilities in protein evolution

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Diagnostic exome sequencing in persons with severe intellectual disability

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

Large-scale objective association of mouse phenotypes with human symptoms through structural variation identified in patients with developmental disorders.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180223

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24759409

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/24759409

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NATURE13127

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

31 May 2020

1002821806

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

PubMed publication ID

24759409

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24759409%20AND%20SRC:MED&resulttype=core&format=json