Evidence map›Paper›PMID 24762275›Full record

ReviewHaemophilia : the official journal of the World Federation of Hemophilia2014

Genomics of bleeding disorders.

A C Goodeve, A Pavlova, J Oldenburg

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 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
2.1field-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

5 citing papers in PubMed, 19 citations in OpenAlex.

  1. Review
  2. Diagnosis of bleeding disorder of unknown cause: how many tests are enough to diagnose BDUC?Hematology. American Society of Hematology. Education Program · 2025
    Review
  3. Article
  4. Molecular Genetic Diagnosis of the Inherited Bleeding Disorders: Are We Close to the Perfect Test?Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2016
    Article
  5. 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

3 authors at 1 institution in 1 country.

A C GoodeveSheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust and Haemostasis Research Group, Department of Cardiovascular Science, University of Sheffield, Sheffield, UK.
A Pavlova
J Oldenburg
Sheffield Children's NHS Foundation Trust · 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

Molecular genetic tools are widely applied in inherited bleeding disorders. New genes involved in haemorrhagic disorders have been identified by genome wide linkage analysis on families with a specific phenotype. LMNA1 or MCFD in combined FV/FVIII-deficiency and VKORC1 in vitamin K coagulation factor deficiency type 2 are two examples. Identification of the causative gene mutation has become standard for most bleeding disorders. Knowledge of the causative mutation allows genetic counselling in affected families and most importantly adds to the pathophysiological understanding of phenotypes. Haemophilia A represents a model as the F8 gene mutation predicts the risk of developing an inhibitor and more recently also the bleeding phenotype. In this review novel genetic diagnostic strategies for bleeding disorders are outlined and inhibitor formation is presented as an example for clinical relevant phenotype/genotype correlation studies.

Indexed as

GenomicsAnimalsBlood Coagulation DisordersBlood Coagulation FactorsGenetic TestingHumansIsoantibodiesPrognosisBlood Coagulation FactorsIsoantibodiesbleeding disordersgeneticsgenomicshaemophiliainhibitor development

Identifiers

PMID24762275
PMCPMC4274361
OpenAlexW2073845151

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.