(Q28655218)

3

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

Heidi L. Rehm

4

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

Jay Shendure

5

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

Russ Altman

8

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

9

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

Jeffrey Barrett

11

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

Chris Gunter

27

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

20

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

author name string

D G MacArthur

1

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

6

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

7

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

10

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

12

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

13

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

14

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

15

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

18

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

19

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

21

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

22

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

23

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

24

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

25

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

26

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

2

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

16

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

17

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

copyright license

1 reference

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

copyright status

copyrighted

0 references

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

7 April 2017

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7 April 2017

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7 April 2017

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7 April 2017

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7 April 2017

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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

3 June 2018

1 reference

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Differential confounding of rare and common variants in spatially structured populations

3 June 2018

1 reference

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

3 June 2018

1 reference

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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

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

3 June 2018

1 reference

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

3 June 2018

1 reference

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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

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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

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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

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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