| Title: |
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders |
| Authors: |
Westbury, SK; Turro, E; Greene, D; Lentaigne, C; Kelly, AM; Bariana, TK; Simeoni, I; Pillois, X; Attwood, A; Austin, S; Jansen, SBG; Bakchoul, T; Crisp-Hihn, A; Erber, WN; Favier, R; Foad, N; Gattens, M; Jolley, JD; Liesner, R; Meacham, S; Millar, CM; Nurden, AT; Peerlinck, K; Perry, DJ; Poudel, P; Schulman, S; Schulze, H; Stephens, JC; Furie, B; Robinson, PN; Van Geet, C; Rendon, A; Gomez, K; Laffan, MA; Lambert, MP; Nurden, P; Ouwehand, WH; Richardson, S; Mumford, AD; Freson, K |
| Contributors: |
Medical Research Council (MRC); Medical Research Council |
| Publisher Information: |
BioMed Central |
| Publication Year: |
2015 |
| Collection: |
Imperial College London: Spiral |
| Subject Terms: |
Science & Technology; Life Sciences & Biomedicine; Genetics & Heredity; Disease; Thrombocytopenia; Guidelines; Complex; Bridge-BPD Consortium; Genetics; Clinical Sciences |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
Genome Medicine; http://hdl.handle.net/10044/1/33110; MR/J011711/1 |
| DOI: |
10.1186/s13073-015-0151-5 |
| Availability: |
http://hdl.handle.net/10044/1/33110; https://doi.org/10.1186/s13073-015-0151-5 |
| Rights: |
© Westbury et al.; licensee BioMed Central. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
| Accession Number: |
edsbas.545CC83E |
| Database: |
BASE |