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. 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
  4. 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
  5. 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

Publications5

  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. 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...
  4. 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...
  5. 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
    ....