(Q34987873)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

title

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

main subject

whole genome sequencing

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Anna Wredenberg

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Christoph Freyer

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

author name string

Henrik Stranneheim

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Martin Engvall

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Karin Naess

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Nicole Lesko

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Mats Dahlberg

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Robin Andeer

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Michela Barbaro

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Helene Bruhn

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Tesfail Emahazion

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Måns Magnusson

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Rolf Wibom

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Rolf H Zetterström

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Valtteri Wirta

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Ulrika von Döbeln

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Anna Wedell

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

language of work or name

English

0 references

publication date

11 December 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

volume

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

page(s)

1090

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

24 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=4299811

ACMG clinical laboratory standards for next-generation sequencing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299811

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299811

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299811

A framework for variation discovery and genotyping using next-generation DNA sequencing data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299811

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299811

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299811

BEDTools: a flexible suite of utilities for comparing genomic features

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299811

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299811

The Sequence Alignment/Map format and SAMtools

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299811

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299811

Fast and accurate short read alignment with Burrows-Wheeler transform

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299811

X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299811

Mutation analysis in 54 propionic acidemia patients

8 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2164-15-1090

Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299811

10.1186/1471-2164-15-1090

9 December 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

PubMed publication ID

25495354

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25495354%20AND%20SRC:MED&resulttype=core&format=json