Susan Christian

Summary

Affiliation: University of Chicago
Country: USA

Publications

  1. pmc Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder
    Susan L Christian
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Biol Psychiatry 63:1111-7. 2008
  2. ncbi request reprint Genetics of autism spectrum disorders
    Ravinesh A Kumar
    Department of Human Genetics, University of Chicago, 920 East 58th Street, MC0077, Chicago, IL 60637, USA
    Curr Neurol Neurosci Rep 9:188-97. 2009
  3. doi request reprint Copy number and sequence variants implicate APBA2 as an autism candidate gene
    Timothy D Babatz
    Department of Human Genetics, University of Chicago, Chicago, Illinois 60637 5415, USA
    Autism Res 2:359-64. 2009
  4. ncbi request reprint Recurrent 16p11.2 microdeletions in autism
    Ravinesh A Kumar
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Hum Mol Genet 17:628-38. 2008
  5. pmc No evidence for association between 19 cholinergic genes and bipolar disorder
    Jiajun Shi
    Department of Psychiatry, The University of Chicago, Chicago, Illinois 60637, USA
    Am J Med Genet B Neuropsychiatr Genet 144:715-23. 2007
  6. ncbi request reprint Autism as a paradigmatic complex genetic disorder
    Jeremy Veenstra-Vanderweele
    Departments of Psychiatry, The University of Chicago, Illinois 60637, USA
    Annu Rev Genomics Hum Genet 5:379-405. 2004
  7. pmc DNannotator: Annotation software tool kit for regional genomic sequences
    Chunyu Liu
    Department of Psychiatry, University of Chicago, Chicago, IL, USA
    Nucleic Acids Res 31:3729-35. 2003
  8. pmc Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2
    William B Dobyns
    Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA
    Am J Med Genet A 146:1637-54. 2008
  9. pmc Polymorphisms at the G72/G30 gene locus, on 13q33, are associated with bipolar disorder in two independent pedigree series
    Eiji Hattori
    Department of Psychiatry, The University of Chicago, IL 60637, USA
    Am J Hum Genet 72:1131-40. 2003
  10. ncbi request reprint An evaluation of the assembly of an approximately 15-Mb region on human chromosome 13q32-q33 linked to bipolar disorder and schizophrenia
    Susan L Christian
    Department of Psychiatry, The University of Chicago, Chicago, Illinois 60637, USA
    Genomics 79:635-56. 2002

Research Grants

  1. Genomic Imbalances in Autism
    Susan Christian; Fiscal Year: 2007

Detail Information

Publications12

  1. pmc Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder
    Susan L Christian
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Biol Psychiatry 63:1111-7. 2008
    ..e., microdeletions and microduplications that are undetectable at the level of traditional cytogenetic analysis, allows the potential association of submicroscopic chromosomal imbalances and human disease...
  2. ncbi request reprint Genetics of autism spectrum disorders
    Ravinesh A Kumar
    Department of Human Genetics, University of Chicago, 920 East 58th Street, MC0077, Chicago, IL 60637, USA
    Curr Neurol Neurosci Rep 9:188-97. 2009
    ..Although great progress has been made in autism genetics, the molecular bases of most ASDs remains enigmatic...
  3. doi request reprint Copy number and sequence variants implicate APBA2 as an autism candidate gene
    Timothy D Babatz
    Department of Human Genetics, University of Chicago, Chicago, Illinois 60637 5415, USA
    Autism Res 2:359-64. 2009
    ..The co-occurrence of two nonsynonymous mutations in both affected siblings in a single family, each transmitted from a different unaffected parent, suggest a role for APBA2 mutations in rare individuals with ASD...
  4. ncbi request reprint Recurrent 16p11.2 microdeletions in autism
    Ravinesh A Kumar
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Hum Mol Genet 17:628-38. 2008
    ..Our work reports the first frequency, breakpoint, bioinformatic and phenotypic analyses of a de novo 16p11.2 microdeletion that represents one of the most common recurrent genomic disorders associated with autism to date...
  5. pmc No evidence for association between 19 cholinergic genes and bipolar disorder
    Jiajun Shi
    Department of Psychiatry, The University of Chicago, Chicago, Illinois 60637, USA
    Am J Med Genet B Neuropsychiatr Genet 144:715-23. 2007
    ..Thus, it is unlikely that these 19 cholinergic genes play a major role in the pre-disposition to BD in these pedigrees...
  6. ncbi request reprint Autism as a paradigmatic complex genetic disorder
    Jeremy Veenstra-Vanderweele
    Departments of Psychiatry, The University of Chicago, Illinois 60637, USA
    Annu Rev Genomics Hum Genet 5:379-405. 2004
    ..However, it is essential that the restricted interests of patients with autism not be reflected in overly restrictive genetic approaches if we are to better understand the genetics of autism in the most expeditious and thorough manner...
  7. pmc DNannotator: Annotation software tool kit for regional genomic sequences
    Chunyu Liu
    Department of Psychiatry, University of Chicago, Chicago, IL, USA
    Nucleic Acids Res 31:3729-35. 2003
    ..Reference data (reports on the process) facilitating the user's evaluation of annotation quality are optionally provided. DNannotator can be accessed at http://sky.bsd.uchicago.edu/DNannotator.htm...
  8. pmc Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2
    William B Dobyns
    Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA
    Am J Med Genet A 146:1637-54. 2008
    ..Most and possibly all of these loci demonstrate incomplete penetrance and variable expressivity. We anticipate that these data will serve as the basis for ongoing efforts to identify the causal genes located in these regions...
  9. pmc Polymorphisms at the G72/G30 gene locus, on 13q33, are associated with bipolar disorder in two independent pedigree series
    Eiji Hattori
    Department of Psychiatry, The University of Chicago, IL 60637, USA
    Am J Hum Genet 72:1131-40. 2003
    ..Taken together with the earlier report, this is the first demonstration of a novel gene(s), discovered through a positional approach, independently associated with both bipolar illness and schizophrenia...
  10. ncbi request reprint An evaluation of the assembly of an approximately 15-Mb region on human chromosome 13q32-q33 linked to bipolar disorder and schizophrenia
    Susan L Christian
    Department of Psychiatry, The University of Chicago, Chicago, Illinois 60637, USA
    Genomics 79:635-56. 2002
    ..Overall, integration of the data from multiple sources is still needed for complete assembly of the 13q32-q33 region. (c)..
  11. pmc Association and mutation analyses of 16p11.2 autism candidate genes
    Ravinesh A Kumar
    Department of Human Genetics, The University of Chicago, Chicago, Illinois, USA
    PLoS ONE 4:e4582. 2009
    ..2 that contains 24 genes represents the second most frequent chromosomal disorder associated with autism. The role of common and rare 16p11.2 sequence variants in autism etiology is unknown...
  12. pmc A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism
    Ravinesh A Kumar
    Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA
    J Med Genet 47:81-90. 2010
    ..3 Mb microdeletion on chromosome 1p34.2p34.3. The hypothesis is tested that this microdeletion contains one or more genes that underlie the autism phenotype in this child and in other children with autism spectrum disorders...

Research Grants4

  1. Genomic Imbalances in Autism
    Susan Christian; Fiscal Year: 2007
    ..These data will be valuable in both identifying polymorphic variants in normal human control samples and also identifying chromosomal dosage imbalances that are associated with autism. ..