Evidence map›Paper›PMID 24762276›Full record

ReviewHaemophilia : the official journal of the World Federation of Hemophilia2014

Genetic testing in bleeding disorders.

C de Brasi, O El-Maarri, D J Perry, J Oldenburg, B Pezeshkpoor, A Goodeve

Open access · bronzeAbstract readReview
In one paragraph

Review in Haemophilia : the official journal of the World Federation of Hemophilia, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
2.3field-weighted citation impact, top 12% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 21 citations in OpenAlex.

  1. Review
  2. Mutational Profiles ofMediterranean journal of hematology and infectious diseases · 2018
    Article
  3. Article
  4. Observational
  5. Article
  6. Complexity and diversity of F8 genetic variations in the 1000 genomes.Journal of thrombosis and haemostasis : JTH · 2015
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 4 institutions in 3 countries.

C de BrasiInstituto de Medicina Experimental (IMEX), CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina; Instituto de Investigaciones Hematologicas Mariano R Castex, Academia Nacional de Medicina, Buenos Aires, Argentina.
O El-Maarri
D J Perry
J Oldenburg
B Pezeshkpoor
A Goodeve
University of Bonn · DEAddenbrooke's Hospital · GBConsejo Nacional de Investigaciones Científicas y Técnicas · ARUniversity of Sheffield · GB

Funding

Zimmerman Program for the Molecular and Clinical Biology of VWDP01HL081588 · NHLBI · VERSITI WISCONSIN, INC. · PI MONTGOMERY, ROBERT R · 2005 to 2016
$19.3M
NHLBI NIH HHS P01 HL081588
6 · The paper itself

Abstract

The aim of molecular genetic analysis in families with haemophilia is to identify the causative mutation in an affected male as this provides valuable information for the patient and his relatives. For the patient, mutation identification may highlight inhibitor development risk or discrepancy between different factor VIII assays. For female relatives, knowledge of the familial mutation can facilitate carrier status determination and prenatal diagnosis. Recent advances in understanding mutations responsible for haemophilia and methods for their detection are presented. For reporting of such mutations, participation in external quality assessment ensures that essential patient and mutation details are routinely included and that pertinent information is incorporated in the interpretation.

Indexed as

Genetic TestingBlood Coagulation DisordersFactor IXFactor VIIIHemophilia AHemophilia BHumansMutationFactor IXFactor VIIIexternal quality assessmentgenetic analysishaemophilia Ahaemophilia Bintrachromosomal inversionmissing mutations

Identifiers

PMID24762276
PMCPMC4274362
OpenAlexW1982088663

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.