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Blood, ISSN 0006-4971, 11/2018, Volume 132, Issue Supplement 1, pp. 504 - 504
Abstract The Rare Diseases Pilot study of the 100,000 Genomes Project had two objectives. Firstly, to identify the DNA variants underlying unresolved Mendelian... 
Journal Article
Blood, ISSN 0006-4971, 12/2016, Volume 128, Issue 22, pp. 2540 - 2540
Abstract Inherited bleeding, thrombotic and platelet disorders (BPDs) affect approximately 3M people worldwide and an appreciable portion have a disorder of... 
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2016, Volume 98, Issue 3, pp. 490 - 499
Journal Article
ISSN 0002-9297, 2017
We present a rapid and powerful inference procedure for identifying loci associated with rare hereditary disorders using Bayesian model comparison. Under a... 
rare diseases | rare variants | rare variant association test | whole-genome sequencing | Mendelian diseases | hereditary disorders | Bayesian inference
Journal Article
ISSN 2045-2322, 2018
Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The... 
Gene Expression | NIHR BioResource - Rare Diseases | Humans | Genotype | Liver Neoplasms | Telomere | Telomere Homeostasis | Whole Genome Sequencing | Algorithms | Mesenchymal Stromal Cells | Ploidies | Carcinoma, Hepatocellular | Primary Cell Culture | Telomerase | Induced Pluripotent Stem Cells
Journal Article
Scientific reports, 09/2018, Volume 8, Issue 1, p. 13376
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper. 
Journal Article
Blood, ISSN 0006-4971, 11/2018, Volume 132, Issue Suppl_1, pp. 1156 - 1156
Abstract Inherited defects of platelet function disorders are rare and difficult to diagnose due to lack of standardized platelet tests. An aspirin-like... 
Journal Article
HAEMATOLOGICA, ISSN 0390-6078, 04/2019, Volume 104, Issue 5, pp. 1036 - 1045
Sphingolipids are fundamental to membrane trafficking, apoptosis, and cell differentiation and proliferation. KDSR or 3-keto-dihydrosphingosine reductase is an... 
SPHINGOSINE | DISORDERS | MUTATIONS | METABOLISM | HEMATOLOGY | DISEASE
Journal Article
Haematologica, ISSN 0390-6078, 2017, Volume 102, Issue 2, pp. 282 - 294
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 05/2017, Volume 12, Issue 1, pp. 1 - 7
Journal Article
Journal Article
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