(Q37243310)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

title

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

high-throughput sequencing

1 April 2020

main subject

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Sol Schulman

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Sofia Papadia

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Loredana Bury

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Marco Cattaneo

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Cedric Ghevaert

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Myrto Kostadima

43

1 reference

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1 April 2020

Marguerite Neerman-Arbez

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Augusto Rendon

75

1 reference

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1 April 2020

Kathleen Freson

77

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Willem H. Ouwehand

78

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Ernest Turro

79

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Marie-Christine Alessi

object named as

Marie-Christine Alessi

14

1 reference

ORCID Public Data File 2021

Tadbir K Bariana

6

object named as

Tadbir K Bariana

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

12

Daniel Greene

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

66

Deborah Whitehorn

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

76

Keith Gomez

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

author name string

Ilenia Simeoni

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Jonathan C Stephens

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Fengyuan Hu

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Sri V V Deevi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Claire Lentaigne

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Suthesh Sivapalaratnam

9

1 reference

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1 April 2020

Minka J A Vries

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Sarah K Westbury

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Antony P Attwood

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Matthias Ballmaier

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Emilse Bermejo

18

1 reference

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1 April 2020

Marta Bertoli

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Paul F Bray

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Peter Collins

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Louise C Daugherty

24

1 reference

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1 April 2020

Rémi Favier

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Deborah L French

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Bruce Furie

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Michael Gattens

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Manuela Germeshausen

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Anne C Goodeve

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Jose A Guerrero

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Daniel J Hampshire

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Daniel P Hart

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Johan W M Heemskerk

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Yvonne M C Henskens

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Marian Hill

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Nancy Hogg

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Jennifer D Jolley

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Walter H Kahr

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Anne M Kelly

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Ron Kerr

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Shinji Kunishima

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Michele P Lambert

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Ri Liesner

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

José A López

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Rutendo P Mapeta

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Mary Mathias

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Carolyn M Millar

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Amit Nathwani

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Alan T Nurden

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Paquita Nurden

54

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Maha Othman

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Kathelijne Peerlinck

56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

David J Perry

57

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Pawan Poudel

58

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Pieter Reitsma

59

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Matthew T Rondina

60

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Peter A Smethurst

61

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

William Stevenson

62

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Artur Szkotak

63

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Salih Tuna

64

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Christel van Geet

65

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

David A Wilcox

67

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Bin Zhang

68

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Shoshana Revel-Vilk

69

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Paolo Gresele

70

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Daniel B Bellissimo

71

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Christopher J Penkett

72

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Michael A Laffan

73

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Andrew D Mumford

74

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Gareth Baynam

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

language of work or name

English

0 references

publication date

15 April 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

volume

127

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

issue

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

page(s)

2791-2803

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

Guidelines for diagnostic next-generation sequencing

1 April 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

The UK10K project identifies rare variants in health and disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Clinical applications of next generation sequencing in cancer: from panels, to exomes, to genomes.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Characterization of an autosomal dominant bleeding disorder caused by a thrombomodulin mutation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

The diagnosis and management of von Willebrand disease: a United Kingdom Haemophilia Centre Doctors Organization guideline approved by the British Committee for Standards in Haematology

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

A hereditary bleeding disorder resulting from a premature stop codon in thrombomodulin (p.Cys537Stop)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Improved exome prioritization of disease genes through cross-species phenotype comparison

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Comparison of commercially available target enrichment methods for next-generation sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

An integrated map of genetic variation from 1,092 human genomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Past, present and future of hemophilia: a narrative review

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Diagnosis and management of von Willebrand disease in the United Kingdom

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Factor V Leiden thrombophilia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Integrating common and rare genetic variation in diverse human populations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

6 September 2017

Whole genome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Clinical manifestation and molecular genetic characterization of MYH9 disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Fast and accurate short read alignment with Burrows-Wheeler transform

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

PLINK: a tool set for whole-genome association and population-based linkage analyses

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Genotype-proteotype linkage in the Wiskott-Aldrich syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Complete cDNA and derived amino acid sequence of human factor V

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Characterization of the human factor VIII gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Detection and sequence of mutations in the factor VIII gene of haemophiliacs

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Quebec platelet disorder.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

3 September 2018

von Willebrand disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

The Human Gene Mutation Database: 2008 update

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Genetics of Venous Thrombosis: update in 2015

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5016734

Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27084890

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Severe coagulation factor V deficiency caused by 2 novel frameshift mutations: 2952delT in exon 13 and 5493insG in exon 16 of factor 5 gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27084890

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1182/BLOOD-2015-12-688267

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27084890%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

PubMed publication ID

27084890

1 reference