Skip to Main Content

Paper Details

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.
Genome Med
93
2015
ACTN1, BPD, HPO, Heritable bleeding, Human, abnormalities in, genetic defects, platelet disorders, rare diseases, syndromic disorders
Author NameAffiliation
Sarah K WestburySchool of Clinical Sciences, University of Bristol
Ernest TurroUniversity of Cambridge, UK Medical Research Council Biostatistics Unit
Ernest TurroUniversity of Cambridge, UK Medical Research Council Biostatistics Unit
Daniel GreeneUniversity of Cambridge, UK Medical Research Council Biostatistics Unit
Claire LentaigneImperial College Academic Health Sciences Centre, Imperial College London, UK Imperial College Healthcare NHS Trust
Anne M KellyUniversity of Cambridge
Anne M KellyUniversity of Cambridge
Tadbir K BarianaUniversity College London Cancer Institute, Royal Free London NHS Foundation Trust
Tony AttwoodUniversity of Cambridge
Sjoert B G JansenUniversity of Cambridge
Wendy N ErberUniversity of Western Australia
Rémi FavierTrousseau Children's Hospital and INsermU9
Nicola FoadUniversity of Cambridge
Jennifer JolleyUniversity of Cambridge
Stuart MeachamUniversity of Cambridge
Pawan PoudelUniversity of Cambridge
Jonathan StephensUniversity of Cambridge
Peter N RobinsonInstitut fur Medizinische Genetik und Humangenetik, Charite Universitatsmedizin, Germany Max Planck Institute for Molecular Genetics, Germany Institute for Bioinformatics, Department of Mathematics and Computer Science Freie Universitat
Peter N RobinsonInstitut fur Medizinische Genetik und Humangenetik, Charite Universitatsmedizin, Germany Max Planck Institute for Molecular Genetics, Germany Institute for Bioinformatics, Department of Mathematics and Computer Science Freie Universitat
Chris Van GeetCenter for Molecular and Vascular Biology, University of Leuven
Augusto RendonUniversity of Cambridge, UK Medical Research Council Biostatistics Unit
Augusto RendonUniversity of Cambridge, UK Medical Research Council Biostatistics Unit
Keith GomezRoyal Free London NHS Foundation Trust
Mike LaffanImperial College Academic Health Sciences Centre, Imperial College London
Willem H OuwehandUniversity of Cambridge, UK Wellcome Trust Sanger Institute
Willem H OuwehandUniversity of Cambridge, UK Wellcome Trust Sanger Institute
Sylvia RichardsonMedical Research Council Biostatistics Unit
Andrew D MumfordUniversity of Bristol
Andrew D MumfordUniversity of Bristol
Kathleen FresonCenter for Molecular and Vascular Biology, University of Leuven
Kathleen FresonCenter for Molecular and Vascular Biology, University of Leuven
  • 1 - 31

Datasets

Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink