(Q30668593)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

title

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

Diaphanous related formin 1

8 March 2020

main subject

Giant platelet disorder

1 reference

based on heuristic

inferred from title

1 reference

regulation of cytoskeleton organization

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Sarah K. Westbury

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

William Astle

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Myrto Kostadima

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Sofia Papadia

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Sol Schulman

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Wendy Erber

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Augusto Rendon

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

John R Bradley

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Sylvia Richardson

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Kathleen Freson

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Willem H. Ouwehand

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

35

Kathleen Stirrups

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

9

Sandrine Marlin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

author name string

Simon Stritt

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Paquita Nurden

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Daniel Greene

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Sjoert B Jansen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Romina Petersen

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Tadbir K Bariana

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Claire Lentaigne

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Stephanie Maiwald

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Anne M Kelly

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Jonathan C Stephens

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Christopher J Penkett

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Sofie Ashford

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Salih Tuna

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Steve Austin

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Tamam Bakchoul

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Peter Collins

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Rémi Favier

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Michele P Lambert

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Mary Mathias

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Carolyn M Millar

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Rutendo Mapeta

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

David J Perry

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Ilenia Simeoni

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Chantal Thys

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

BRIDGE-BPD Consortium

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Keith Gomez

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Chris van Geet

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

F Lucy Raymond

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Michael A Laffan

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Alan T Nurden

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Bernhard Nieswandt

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Andrew D Mumford

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

language of work or name

English

0 references

publication date

24 February 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

volume

127

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

issue

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

page(s)

2903-2914

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

10.1182/BLOOD-2015-10-675629

8 March 2020

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26912466%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

1 reference