(Q31022262)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

David R Adams

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Elise D Flynn

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Marta Girdea

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Jules Jacobsen

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Sebastian Köhler

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Amanda Links

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Cynthia J Tifft

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Elise Valkanas

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Nicole Vasilevsky

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Cornelius F Boerkoel

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Christopher J. Mungall

17

object named as

Christopher J Mungall

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

31

Melissa A Haendel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

33

Damian Smedley

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

2

Nicole L Washington

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

author name string

William P Bone

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Joie Davis

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

David Draper

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Rena Godfrey

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Gretchen Golas

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Catherine Groden

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Elizabeth M J Lee

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Thomas C Markello

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Michele Nehrebecky

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Murat Sincan

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Ariane G Soldatos

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Camilo Toro

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Heather Trang

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Colleen Wahl

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Lynne A Wolfe

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

William A Gahl

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Peter N Robinson

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Michael Brudno

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

language of work or name

English

0 references

publication date

12 November 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

number of pages

10

0 references

published in

Genetics in Medicine

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

page(s)

608-617

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.

29 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

Genome-scale sequencing to identify genes involved in Mendelian disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy

21 June 2018

1 reference

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Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research

21 June 2018

1 reference

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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

Improved exome prioritization of disease genes through cross-species phenotype comparison

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

eXtasy: variant prioritization by genomic data fusion.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

PhenoDigm: analyzing curated annotations to associate animal models with human diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

PhenoTips: patient phenotyping software for clinical and research use.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

A systematic genome-wide analysis of zebrafish protein-coding gene function

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty four Caucasians

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

STRING v9.1: protein-protein interaction networks, with increased coverage and integration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

Linking human diseases to animal models using ontology-based phenotype annotation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

Accurate whole human genome sequencing using reversible terminator chemistry

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

Walking the interactome for prioritization of candidate disease genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4916229

Phen-Gen: combining phenotype and genotype to analyze rare disorders

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FGIM.2015.137

The NIH Undiagnosed Diseases Program: lessons learned

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26562225

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The WEKA data mining software: an update

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FGIM.2015.137

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/GIM.2015.137

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

29 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562225%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

PubMed publication ID

26562225

1 reference