Sandra C Doelken

Summary

Affiliation: Humboldt University
Country: Germany

Publications

  1. doi request reprint Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci
    Sandra C Doelken
    Institute for Medical and Human Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
    Am J Med Genet A 161:218-24. 2013
  2. pmc Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish
    Sandra C Doelken
    Institute for Medical and Human Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Dis Model Mech 6:358-72. 2013
  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
  4. pmc Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations
    Daniel M Ibrahim
    Berlin Brandenburg Center for Regenerative Therapies BCRT, Charite Universitatsmedizin Berlin, 13353 Berlin, Germany
    Genome Res 23:2091-102. 2013
  5. pmc A GDF5 point mutation strikes twice--causing BDA1 and SYNS2
    Elisa Degenkolbe
    Berlin Brandenburg Center for Regenerative Therapies BCRT, Charite Universitatsmedizin Berlin, Berlin, Germany Berlin Brandenburg School for Regenerative Therapies BSRT, Charite Universitatsmedizin Berlin, Berlin, Germany
    PLoS Genet 9:e1003846. 2013
  6. doi request reprint Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
    Eva Klopocki
    Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
    J Med Genet 49:119-25. 2012
  7. pmc Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance
    Julia Zimmer
    Berlin Brandenburg Center for Regenerative Therapies, Charite Universitatsmedizin Berlin, Berlin, Germany
    PLoS ONE 7:e35062. 2012
  8. doi request reprint Ontological phenotype standards for neurogenetics
    Sebastian Kohler
    Institute for Medical and Human Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
    Hum Mutat 33:1333-9. 2012

Collaborators

Detail Information

Publications8

  1. doi request reprint Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci
    Sandra C Doelken
    Institute for Medical and Human Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
    Am J Med Genet A 161:218-24. 2013
    ..2 deletions. We provide a characterization of the 15q25.2 microdeletions and contribute to the genotype-phenotype delineation for these two novel microdeletion syndromes...
  2. pmc Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish
    Sandra C Doelken
    Institute for Medical and Human Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Dis Model Mech 6:358-72. 2013
    ....
  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. ..
  4. pmc Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations
    Daniel M Ibrahim
    Berlin Brandenburg Center for Regenerative Therapies BCRT, Charite Universitatsmedizin Berlin, 13353 Berlin, Germany
    Genome Res 23:2091-102. 2013
    ..The methodology described can be used to investigate a wide spectrum of TFs and mutations that have not previously been amenable to ChIP-seq experiments. ..
  5. pmc A GDF5 point mutation strikes twice--causing BDA1 and SYNS2
    Elisa Degenkolbe
    Berlin Brandenburg Center for Regenerative Therapies BCRT, Charite Universitatsmedizin Berlin, Berlin, Germany Berlin Brandenburg School for Regenerative Therapies BSRT, Charite Universitatsmedizin Berlin, Berlin, Germany
    PLoS Genet 9:e1003846. 2013
    ..These novel insights into the biology of GDF5 might also provide further clues on the pathophysiology of OA...
  6. doi request reprint Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
    Eva Klopocki
    Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
    J Med Genet 49:119-25. 2012
    ..Although six different loci/mutations (SHFM1-6) have been associated with SHFM, the underlying cause in a large number of cases is still unresolved...
  7. pmc Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance
    Julia Zimmer
    Berlin Brandenburg Center for Regenerative Therapies, Charite Universitatsmedizin Berlin, Berlin, Germany
    PLoS ONE 7:e35062. 2012
    ..This study highlights that a given genetic variation should not be considered pathogenic unless supported by functional analyses...
  8. doi request reprint Ontological phenotype standards for neurogenetics
    Sebastian Kohler
    Institute for Medical and Human Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
    Hum Mutat 33:1333-9. 2012
    ....