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

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29 February 2020

1 reference

3

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29 February 2020

David R Adams

4

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29 February 2020

Elise D Flynn

7

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29 February 2020

Marta Girdea

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29 February 2020

Jules Jacobsen

12

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29 February 2020

Sebastian Köhler

13

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Amanda Links

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29 February 2020

Cynthia J Tifft

22

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Elise Valkanas

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Nicole Vasilevsky

26

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29 February 2020

Cornelius F Boerkoel

29

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29 February 2020

Christopher J. Mungall

17

object named as

Christopher J Mungall

1 reference

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29 February 2020

31

Melissa A Haendel

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29 February 2020

33

Damian Smedley

1 reference

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29 February 2020

2

Nicole L Washington

1 reference

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29 February 2020

author name string

William P Bone

1

1 reference

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29 February 2020

Joie Davis

5

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29 February 2020

David Draper

6

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29 February 2020

Rena Godfrey

9

1 reference

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29 February 2020

Gretchen Golas

10

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29 February 2020

Catherine Groden

11

1 reference

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29 February 2020

Elizabeth M J Lee

14

1 reference

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29 February 2020

Thomas C Markello

16

1 reference

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29 February 2020

Michele Nehrebecky

18

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29 February 2020

Murat Sincan

20

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Ariane G Soldatos

21

1 reference

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29 February 2020

Camilo Toro

23

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29 February 2020

Heather Trang

24

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29 February 2020

Colleen Wahl

27

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29 February 2020

Lynne A Wolfe

28

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29 February 2020

William A Gahl

32

1 reference

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29 February 2020

Peter N Robinson

19

1 reference

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29 February 2020

Michael Brudno

30

1 reference

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29 February 2020

language of work or name

English

0 references

publication date

12 November 2015

1 reference

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29 February 2020

number of pages

10

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published in

Genetics in Medicine

1 reference

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29 February 2020

volume

18

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29 February 2020

page(s)

608-617

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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

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

29 February 2020

cites work

1 reference

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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).

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21 June 2018

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Crossref

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

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PubMed

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inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The WEKA data mining software: an update

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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

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29 February 2020

1 reference