(Q57536768)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24123792%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

title

A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases (English)

1 reference

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27 February 2020

0 references

3

1 reference

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27 February 2020

Arjen R Mensenkamp

6

1 reference

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27 February 2020

Richard J Rodenburg

7

1 reference

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27 February 2020

Koen Van Gassen

12

1 reference

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27 February 2020

Joris A Veltman

29

1 reference

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27 February 2020

Hans Scheffer

31

1 reference

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27 February 2020

Marjolijn J L Ligtenberg

20

object named as

Marjolijn J L Ligtenberg

1 reference

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27 February 2020

30

Han G Brunner

1 reference

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27 February 2020

4

Lies H Hoefsloot

1 reference

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27 February 2020

21

Hannie Kremer

1 reference

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27 February 2020

8

Helger G Yntema

1 reference

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27 February 2020

22

David A Koolen

1 reference

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27 February 2020

32

Marcel R Nelen

1 reference

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27 February 2020

17

Ronny C Derks

1 reference

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27 February 2020

5

Erik-Jan Kamsteeg

1 reference

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27 February 2020

9

Liesbeth Spruijt

1 reference

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27 February 2020

18

Nienke Wieskamp

1 reference

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27 February 2020

Bart van de Warrenburg

23

object named as

Bart P C van de Warrenburg

1 reference

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27 February 2020

25

Carlo L M Marcelis

1 reference

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27 February 2020

15

Rick de Reuver

1 reference

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27 February 2020

11

Tuula Rinne

1 reference

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27 February 2020

2

Ilse Feenstra

1 reference

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27 February 2020

24

Frans P M Cremers

1 reference

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27 February 2020

14

Dorien Lugtenberg

1 reference

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27 February 2020

author name string

Kornelia Neveling

1

1 reference

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27 February 2020

Danielle Bodmer

13

1 reference

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27 February 2020

Wendy Buijsman

16

1 reference

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27 February 2020

Bert van den Heuvel

19

1 reference

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27 February 2020

Sascha Vermeer

10

1 reference

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27 February 2020

Jan A M Smeitink

26

1 reference

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27 February 2020

Saskia B Wortmann

27

1 reference

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27 February 2020

Wendy A G van Zelst-Stams

28

1 reference

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27 February 2020

publication date

18 October 2013

1 reference

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27 February 2020

1 reference

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27 February 2020

volume

34

1 reference

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27 February 2020

issue

12

1 reference

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27 February 2020

page(s)

1721-1726

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24123792%20AND%20SRC:MED&resulttype=core&format=json

A method and server for predicting damaging missense mutations

27 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

Exome sequencing as a tool for Mendelian disease gene discovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

Performance comparison of exome DNA sequencing technologies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

Exome sequencing can improve diagnosis and alter patient management

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

Substantial biases in ultra-short read data sets from high-throughput DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

Unlocking Mendelian disease using exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

Disease gene identification strategies for exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

Massively parallel sequencing of ataxia genes after array-based enrichment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

Clinical application of exome sequencing in undiagnosed genetic conditions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

Next-generation genetic testing for retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

SIFT: Predicting amino acid changes that affect protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

Detection of nonneutral substitution rates on mammalian phylogenies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

Comparison of solution-based exome capture methods for next generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

Is early-onset microsatellite and chromosomally stable colorectal cancer a hallmark of a genetic susceptibility syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22450

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22450

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24123792%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference