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

Genome Medicine

Volumn 7, Issue 1, 2015, Pages

  Westbury, Sarah K ^a   Turro, Ernest ^b,c,h   Greene, Daniel ^b,c,h   Lentaigne, Claire ^d,e   Kelly, Anne M ^b,c   Bariana, Tadbir K ^f,g   Simeoni, Ilenia ^b,c   Pillois, Xavier ⁱ   Attwood, Antony ^b,c   Austin, Steve ^j   Jansen, Sjoert ^b,c   Bakchoul, Tamam ^k   Crisp Hihn, Abi ^b,c   Erber, Wendy N ^l   Favier, Rémi ^m   Foad, Nicola ^b,c   Gattens, Michael ⁿ   Jolley, Jennifer D ^b,c   Liesner, Ri ^o   Meacham, Stuart ^b,c   Millar, Carolyn M ^d,e   Nurden, Alan T ⁱ   Peerlinck, Kathelijne ^p   Perry, David J ⁿ   Poudel, Pawan ^b,c   Schulman, Sol ^q   Schulze, Harald ^r   Stephens, Jonathan C ^b,c   Furie, Bruce ^q   Robinson, Peter N ^s,t,u   van Geet, Chris ^p   Rendon, Augusto ^b,c,h   Gomez, Keith ^g   Laffan, Michael A ^d   Lambert, Michele P ^v,w   Nurden, Paquita ⁱ   Ouwehand, Willem H ^b,c,x   Richardson, Sylvia ^h   Mumford, Andrew D ^a   Freson, Kathleen ^p   more..

^a UNIVERSITY OF BRISTOL   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c NHS BLOOD AND TRANSPLANT   (United Kingdom)

^d IMPERIAL COLLEGE LONDON   (United Kingdom)

^e IMPERIAL COLLEGE HEALTHCARE NHS TRUST   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g ROYAL FREE LONDON NHS FOUNDATION TRUST   (United Kingdom)

^h MRC BIOSTATISTICS UNIT   (United Kingdom)

ⁱ Ctr Geriatrie Ctr Hosp Univ B   (France)

^j GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^k UNIVERSITY MEDICINE GREIFSWALD   (Germany)

^l UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^m ARMAND TROUSSEAU HOSPITAL   (France)

ⁿ ADDENBROOKE S HOSPITAL   (United Kingdom)

^o GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^p UNIVERSITY OF LEUVEN   (Belgium)

^q HARVARD MEDICAL SCHOOL   (United States)

^r UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^s CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^t MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^u FREIE UNIVERSITÄT BERLIN   (Germany)

^v CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^w UNIVERSITY OF PENNSYLVANIA   (United States)

^x WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACTN1 GENE; ADULT; ARTICLE; BLEEDING; BLEEDING AND PLATELET DISORDER; CHILD; CLUSTER ANALYSIS; FEMALE; GENE; GENE CLUSTER; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; ONTOLOGY; PHENOTYPE; PRIORITY JOURNAL; THROMBOCYTE DISORDER;

EID: 84928789885     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/s13073-015-0151-5     Document Type: Article

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