Helen V Firth

Summary

Affiliation: University of Cambridge
Country: UK

Publications

  1. pmc DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
    Helen V Firth
    Cambridge University Department of Medical Genetics, Addenbrooke s Hospital, Cambridge CB2 2QQ, UK
    Am J Hum Genet 84:524-33. 2009
  2. pmc DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation
    Eugene Bragin
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK and Cambridge University Department of Medical Genetics, Addenbrooke s Hospital, Cambridge CB2 2QQ, UK
    Nucleic Acids Res 42:D993-D1000. 2014
  3. pmc The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
    Sebastian Kohler
    Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Berlin Brandenburg Center for Regenerative Therapies, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Lawrence Berkeley National Laboratory, Mail Stop 84R0171, Berkeley, CA 94720, USA, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK, Department of Medical Genetics, Cambridge University Addenbrooke s Hospital, Cambridge CB2 2QQ, UK, Universite Paul Sabatier, Faculte de Chirurgie Dentaire, CHU Toulouse, France, Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre MAHSC, Manchester, UK, Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester M13 9WL, UK, Institute of Genetic Medicine Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK, Department of Computer Science, University of Toronto, Ontario, Canada
    Nucleic Acids Res 42:D966-74. 2014

Collaborators

Detail Information

Publications3

  1. pmc DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
    Helen V Firth
    Cambridge University Department of Medical Genetics, Addenbrooke s Hospital, Cambridge CB2 2QQ, UK
    Am J Hum Genet 84:524-33. 2009
    ..By sharing cases worldwide, clusters of rare cases having phenotype and structural rearrangement in common can be identified, leading to the delineation of new syndromes and furthering understanding of gene function...
  2. pmc DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation
    Eugene Bragin
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK and Cambridge University Department of Medical Genetics, Addenbrooke s Hospital, Cambridge CB2 2QQ, UK
    Nucleic Acids Res 42:D993-D1000. 2014
    ..2012) DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders. Hum. Mol. Genet., 21, R37-R44]. ..
  3. pmc The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
    Sebastian Kohler
    Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Berlin Brandenburg Center for Regenerative Therapies, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Lawrence Berkeley National Laboratory, Mail Stop 84R0171, Berkeley, CA 94720, USA, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK, Department of Medical Genetics, Cambridge University Addenbrooke s Hospital, Cambridge CB2 2QQ, UK, Universite Paul Sabatier, Faculte de Chirurgie Dentaire, CHU Toulouse, France, Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre MAHSC, Manchester, UK, Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester M13 9WL, UK, Institute of Genetic Medicine Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK, Department of Computer Science, University of Toronto, Ontario, Canada
    Nucleic Acids Res 42:D966-74. 2014
    ..We have created various ways to access the HPO database content using flat files, a MySQL database, and Web-based tools. All data and documentation on the HPO project can be found online. ..