(Q35974905)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27031083%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

title

Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27031083%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27031083%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Luca Lovrecić

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27031083%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Marija Volk

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27031083%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Alenka Hodzic

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27031083%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

author name string

Gorazd Rudolf

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27031083%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Karin Writzl

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27031083%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Ana Blatnik

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27031083%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Peterlin Borut

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27031083%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

language of work or name

English

0 references

publication date

31 March 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27031083%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27031083%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27031083%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27031083%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

page(s)

1102-1110

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27031083%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/gim.2016.22

31 March 2020

exact match

0 references

cites work

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.22

Disease-targeted sequencing: a cornerstone in the clinic

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.22

The future of Clinical Utility Gene Cards in the context of next-generation sequencing diagnostic panels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.22

Clinical exome sequencing for genetic identification of rare Mendelian disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.22

New approaches to molecular diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.22

Guidelines for investigating causality of sequence variants in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.22

Actionable, pathogenic incidental findings in 1,000 participants' exomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.22

Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.22

The human phenotype ontology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.22

ontoCAT: an R package for ontology traversal and search

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.22

Cytoscape 2.8: new features for data integration and network visualization

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.22

PhenoTips: patient phenotyping software for clinical and research use.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.22

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.22

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.22

The usefulness of whole-exome sequencing in routine clinical practice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.22

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.22

Parkinson disease: genetic testing in Parkinson disease-who should be assessed?

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27031083

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Challenges in the clinical application of whole-genome sequencing

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27031083

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27031083

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/GIM.2016.22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27031083%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

1 reference