(Q35577026)

English

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

scientific article published on 9 April 2015

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scholarly article

1 reference

Europe PubMed Central

8 August 2017

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

1 reference

Europe PubMed Central

8 August 2017

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cluster analysis

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

30

object named as

Peter N Robinson

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object named as

Stuart Meacham

20

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object named as

Sol Schulman

26

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Sarah K. Westbury

object named as

Sarah K Westbury

1

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object named as

Augusto Rendon

32

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object named as

Ernest Turro

2

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Kathleen Freson

object named as

Kathleen Freson

40

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Willem H. Ouwehand

object named as

Willem H Ouwehand

37

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object named as

Wendy N Erber

14

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Sylvia Richardson

object named as

Sylvia Richardson

38

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author name string

Daniel Greene

3

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Europe PubMed Central

8 August 2017

Claire Lentaigne

4

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Europe PubMed Central

8 August 2017

Anne M Kelly

5

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Europe PubMed Central

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Tadbir K Bariana

6

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Europe PubMed Central

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Ilenia Simeoni

7

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Europe PubMed Central

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Xavier Pillois

8

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Europe PubMed Central

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Antony Attwood

9

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Steve Austin

10

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Europe PubMed Central

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Sjoert Bg Jansen

11

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Europe PubMed Central

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Tamam Bakchoul

12

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Europe PubMed Central

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Abi Crisp-Hihn

13

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Europe PubMed Central

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Rémi Favier

15

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Europe PubMed Central

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Nicola Foad

16

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Michael Gattens

17

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Europe PubMed Central

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Jennifer D Jolley

18

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Europe PubMed Central

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Ri Liesner

19

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Europe PubMed Central

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Carolyn M Millar

21

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Europe PubMed Central

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Alan T Nurden

22

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Europe PubMed Central

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Kathelijne Peerlinck

23

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Europe PubMed Central

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David J Perry

24

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Pawan Poudel

25

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Harald Schulze

27

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Europe PubMed Central

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Jonathan C Stephens

28

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Europe PubMed Central

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Bruce Furie

29

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Chris van Geet

31

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Keith Gomez

33

1 reference

Europe PubMed Central

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Michael A Laffan

34

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Europe PubMed Central

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Michele P Lambert

35

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Europe PubMed Central

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Paquita Nurden

36

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Europe PubMed Central

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Andrew D Mumford

39

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Europe PubMed Central

8 August 2017

BRIDGE-BPD Consortium

41

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Europe PubMed Central

8 August 2017

language of work or name

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based on heuristic

inferred from title

publication date

9 April 2015

1 reference

Europe PubMed Central

8 August 2017

Genome Medicine

1 reference

Europe PubMed Central

8 August 2017

7

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Europe PubMed Central

8 August 2017

1

1 reference

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36

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Europe PubMed Central

8 August 2017

copyright license

Creative Commons Attribution 4.0 International

9 April 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

https://scigraph.springernature.com/pub.10.1186/s13073-015-0151-5

0 references

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422517

12 July 2018

The contribution of platelet studies to the understanding of disease mechanisms in complex and monogenetic neurological disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422517

12 July 2018

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422517

12 July 2018

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422517

12 July 2018

A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422517

12 July 2018

Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422517

12 July 2018

ACTN1 mutations cause congenital macrothrombocytopenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422517

12 July 2018

Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422517

12 July 2018

Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422517

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422517

12 July 2018

Ontological phenotype standards for neurogenetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422517

12 July 2018

Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422517

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422517

12 July 2018

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422517

12 July 2018

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422517

12 July 2018

Fast and accurate long-read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422517

12 July 2018

Diagnostic utility of light transmission platelet aggregometry: results from a prospective study of individuals referred for bleeding disorder assessments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422517

12 July 2018

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422517

12 July 2018

The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422517

12 July 2018

The rare coagulation disorders--review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422517

12 July 2018

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422517

12 July 2018

Guidelines for the laboratory investigation of heritable disorders of platelet function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422517

26 September 2018

The Deciphering Developmental Disorders (DDD) study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422517

26 September 2018

The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422517

26 September 2018

Coagulation and cancer: biological and clinical aspects

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21 January 2018

Inherited platelet disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/25949529

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High prevalence of bleeders of unknown cause among patients with inherited mucocutaneous bleeding. A prospective study of 280 patients and 299 controls

1 reference

https://pubmed.ncbi.nlm.nih.gov/25949529

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD)

1 reference

https://pubmed.ncbi.nlm.nih.gov/25949529

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/S13073-015-0151-5

1 reference

Europe PubMed Central

8 August 2017

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1 reference

Europe PubMed Central

8 August 2017

1 reference

Europe PubMed Central

8 August 2017

ResearchGate publication ID

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