Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization. (Q52592806)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29644095%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

title

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization (English)

1 reference

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23 March 2020

1 reference

whole genome sequencing

1 reference

7

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23 March 2020

17

Stephen F Kingsmore

1 reference

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23 March 2020

author name string

Lauge Farnaes

1

1 reference

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23 March 2020

Amber Hildreth

2

1 reference

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23 March 2020

Nathaly M Sweeney

3

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23 March 2020

Michelle M Clark

4

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23 March 2020

Shimul Chowdhury

5

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23 March 2020

Shareef Nahas

6

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23 March 2020

Wendy Benson

8

1 reference

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23 March 2020

Robert H Kaplan

9

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23 March 2020

Richard Kronick

10

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23 March 2020

Matthew N Bainbridge

11

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23 March 2020

Jennifer Friedman

12

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23 March 2020

Jeffrey J Gold

13

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23 March 2020

Yan Ding

14

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23 March 2020

Narayanan Veeraraghavan

15

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23 March 2020

David Dimmock

16

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23 March 2020

publication date

4 April 2018

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23 March 2020

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23 March 2020

volume

3

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23 March 2020

page(s)

10

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Creative Commons Attribution 4.0 International

23 March 2020

copyright license

start time

4 April 2018

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1038/s41525-018-0049-4

0 references

cites work

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

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Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

22 May 2018

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Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis.

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Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement.

22 May 2018

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Outcome of Alagille Syndrome Patients Who Had Previously Received Kasai Operation during Infancy: A Single Center Study

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22 May 2018

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22 May 2018

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Crossref

https://api.crossref.org/works/10.1038%2FS41525-018-0049-4

inferred from DOI database lookup

7 January 2021

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Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome.

1 reference

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https://api.crossref.org/works/10.1038%2FS41525-018-0049-4

inferred from DOI database lookup

7 January 2021

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Identifiers

DOI

10.1038/S41525-018-0049-4

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23 March 2020

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23 March 2020

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