Maja Bucan

Summary

Affiliation: University of Pennsylvania
Country: USA

Publications

  1. pmc Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes
    Maja Bucan
    Autism Genetic Resource Exchange, Autism Speaks, Los Angeles, California, United States of America
    PLoS Genet 5:e1000536. 2009
  2. pmc Patterns of sequence conservation in presynaptic neural genes
    Dexter Hadley
    Penn Center for Bioinformatics, 423 Guardian Drive, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Genome Biol 7:R105. 2006
  3. ncbi request reprint The mouse: genetics meets behaviour
    Maja Bucan
    Center for Neurobiology and Behavior, Clinical Research Building, Room 111A, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Nat Rev Genet 3:114-23. 2002
  4. pmc Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
    Joseph T Glessner
    Center for Applied Genomics, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Nature 459:569-73. 2009
  5. pmc Modeling genetic inheritance of copy number variations
    Kai Wang
    Department of Genetics, Division of Human Genetics, Center for Applied Genomics, The Children s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104, USA
    Nucleic Acids Res 36:e138. 2008
  6. pmc Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms
    Sharon J Diskin
    Center for Childhood Cancer Research, Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Nucleic Acids Res 36:e126. 2008
  7. pmc Genomic landscape of a three-generation pedigree segregating affective disorder
    Shuzhang Yang
    Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
    PLoS ONE 4:e4474. 2009
  8. pmc Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia
    Li San Wang
    Department of Pathology, Laboratory Medicine, Biomedical Graduate Studies, University of Pennsylvania, Philadelphia 19104, USA
    BMC Med Genet 11:134. 2010
  9. pmc Genome-wide expression profiling and bioinformatics analysis of diurnally regulated genes in the mouse prefrontal cortex
    Shuzhang Yang
    Department of Genetics and Penn Center for Bioinformatics, University of Pennsylvania, Philadelphia, PA 19104, USA
    Genome Biol 8:R247. 2007
  10. pmc Motifs and cis-regulatory modules mediating the expression of genes co-expressed in presynaptic neurons
    Rui Liu
    Department of Genetics and Penn Center for Bioinformatics, University of Pennsylvania, Philadelphia, PA 19104, USA
    Genome Biol 10:R72. 2009

Detail Information

Publications25

  1. pmc Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes
    Maja Bucan
    Autism Genetic Resource Exchange, Autism Speaks, Los Angeles, California, United States of America
    PLoS Genet 5:e1000536. 2009
    ..That hundreds of distinct rare variants were each seen only once further highlights complexity in the ASDs and points to the continued need for larger cohorts...
  2. pmc Patterns of sequence conservation in presynaptic neural genes
    Dexter Hadley
    Penn Center for Bioinformatics, 423 Guardian Drive, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Genome Biol 7:R105. 2006
    ..Because synaptic function is evolutionarily conserved, we reasoned that functional sequences of genes and related genomic elements known to play important roles in neurotransmitter release would also be conserved...
  3. ncbi request reprint The mouse: genetics meets behaviour
    Maja Bucan
    Center for Neurobiology and Behavior, Clinical Research Building, Room 111A, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Nat Rev Genet 3:114-23. 2002
    ....
  4. pmc Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
    Joseph T Glessner
    Center for Applied Genomics, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Nature 459:569-73. 2009
    ....
  5. pmc Modeling genetic inheritance of copy number variations
    Kai Wang
    Department of Genetics, Division of Human Genetics, Center for Applied Genomics, The Children s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104, USA
    Nucleic Acids Res 36:e138. 2008
    ..In conclusion, our method produces accurate CNV calls, gives probabilistic estimates of CNV transmission and builds a solid foundation for the development of linkage and association tests utilizing CNVs...
  6. pmc Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms
    Sharon J Diskin
    Center for Childhood Cancer Research, Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Nucleic Acids Res 36:e126. 2008
    ..With the wide application of whole-genome SNP genotyping techniques, our wave adjustment method will be important for taking full advantage of genotyped samples for CNV analysis...
  7. pmc Genomic landscape of a three-generation pedigree segregating affective disorder
    Shuzhang Yang
    Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
    PLoS ONE 4:e4474. 2009
    ..Our analysis suggests that family based studies of the combined effect of common and rare CNVs at many loci may represent a useful approach in the genetic analysis of disease susceptibility of mental disorders...
  8. pmc Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia
    Li San Wang
    Department of Pathology, Laboratory Medicine, Biomedical Graduate Studies, University of Pennsylvania, Philadelphia 19104, USA
    BMC Med Genet 11:134. 2010
    ..Genome-wide studies on autism spectrum disorders (ASDs) have mostly focused on large-scale population samples, but examination of rare variations in isolated populations may provide additional insights into the disease pathogenesis...
  9. pmc Genome-wide expression profiling and bioinformatics analysis of diurnally regulated genes in the mouse prefrontal cortex
    Shuzhang Yang
    Department of Genetics and Penn Center for Bioinformatics, University of Pennsylvania, Philadelphia, PA 19104, USA
    Genome Biol 8:R247. 2007
    ..Bioinformatics analysis of these genes will provide insights into a wide-range of pathways that are involved in the pathophysiology of sleep disorders and psychiatric disorders with sleep disturbances...
  10. pmc Motifs and cis-regulatory modules mediating the expression of genes co-expressed in presynaptic neurons
    Rui Liu
    Department of Genetics and Penn Center for Bioinformatics, University of Pennsylvania, Philadelphia, PA 19104, USA
    Genome Biol 10:R72. 2009
    ..The expression of genes in the pre- and post-synaptic neurons is under stringent spatio-temporal control, but the mechanism underlying the neuronal expression of these genes remains largely unknown...
  11. pmc Pathway-based approaches for analysis of genomewide association studies
    Kai Wang
    Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA
    Am J Hum Genet 81:1278-83. 2007
    ....
  12. pmc Mouse transferrin receptor 1 is the cell entry receptor for mouse mammary tumor virus
    Susan R Ross
    Department of Microbiology and Cancer Center, University of Pennsylvania, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 99:12386-90. 2002
    ....
  13. pmc Common genetic variants on 5p14.1 associate with autism spectrum disorders
    Kai Wang
    Center for Applied Genomics, Children s Hospital of Philadelphia, Pennsylvania 19104, USA
    Nature 459:528-33. 2009
    ..Our results implicate neuronal cell-adhesion molecules in the pathogenesis of ASDs, and represent, to our knowledge, the first demonstration of genome-wide significant association of common variants with susceptibility to ASDs...
  14. pmc Sleep behaviors and sleep quality in children with autism spectrum disorders
    Margaret C Souders
    Center for Sleep and Respiratory Neurobiology, University of Pennsylvania School of Nursing and School of Medicine, The Children s Hospital of Philadelphia, Center for Autism Research, 3535 Market Street, Room 835, Philadelphia, PA 19104, USA
    Sleep 32:1566-78. 2009
    ....
  15. pmc Promoter features related to tissue specificity as measured by Shannon entropy
    Jonathan Schug
    Center for Bioinformatics, University of Pennsylvania, Philadelphia, PA 19104, USA
    Genome Biol 6:R33. 2005
    ..A genome-wide analysis of promoters in the context of gene-expression patterns in tissue surveys provides a means of identifying the general principles for these mechanisms...
  16. pmc Nuclear receptor corepressor and histone deacetylase 3 govern circadian metabolic physiology
    Theresa Alenghat
    Division of Endocrinology, Diabetes, and Metabolism, Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Nature 456:997-1000. 2008
    ..These findings indicate that activation of Hdac3 by Ncor1 is a nodal point in the epigenetic regulation of circadian and metabolic physiology...
  17. pmc From mouse to human: evolutionary genomics analysis of human orthologs of essential genes
    Benjamin Georgi
    Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
    PLoS Genet 9:e1003484. 2013
    ..While incomplete, our set of human orthologs shows characteristics fully consistent with essential function in human and thus provides a resource to inform and facilitate interpretation of sequence data in studies of human disease...
  18. doi request reprint Copy Number Variation Detection via High-Density SNP Genotyping
    Kai Wang
    Department of Genetics, University of Pennsylvania, Philadelphia, PA 19446, USA
    CSH Protoc 2008:pdb.top46. 2008
    ..Analyses of CNVs from SNP genotyping arrays will provide a more comprehensive view of genome variation, and complement current genome-wide association studies in identifying disease susceptibility loci...
  19. pmc PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
    Kai Wang
    Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Genome Res 17:1665-74. 2007
    ..3%. Our results demonstrate the feasibility of whole-genome fine-mapping of CNVs via high-density SNP genotyping...
  20. ncbi request reprint Mutations in Rab3a alter circadian period and homeostatic response to sleep loss in the mouse
    David Kapfhamer
    Center for Neurobiology of Behavior of the Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Nat Genet 32:290-5. 2002
    ..Phenotypic assessment of earlybird mice and a null allele of Rab3a revealed anomalies in circadian period and sleep homeostasis, providing evidence that Rab3a-mediated synaptic transmission is involved in these behaviors...
  21. pmc Random mutagenesis of proximal mouse chromosome 5 uncovers predominantly embryonic lethal mutations
    Lawriston Wilson
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Genome Res 15:1095-105. 2005
    ..By pooling the data from this and other region-specific mutagenesis projects, we calculate that the mouse genome contains approximately 3479-4825 embryonic lethal genes, or about 13.7%-19% of all genes...
  22. doi request reprint How much is too much? Phenotypic consequences of Rai1 overexpression in mice
    Santhosh Girirajan
    Department of Human Genetics, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, VA 23298, USA
    Eur J Hum Genet 16:941-54. 2008
    ..2) syndrome or SMS in humans...
  23. ncbi request reprint Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    Peter Szatmari
    Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario L8N 3Z5, Canada
    Nat Genet 39:319-28. 2007
    ..Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs...
  24. pmc The knockout mouse project
    Christopher P Austin
    National Human Genome Research Institute, National Institutes of Health, Building 31, Room 4B09, 31 Center Drive, Bethesda, Maryland 20892, USA
    Nat Genet 36:921-4. 2004
    ..It is time to harness new technologies and efficiencies of production to mount a high-throughput international effort to produce and phenotype knockouts for all mouse genes, and place these resources into the public domain...
  25. ncbi request reprint Running endurance abnormality in mdx mice
    Hajime Hara
    Division of Neurology, Department of Medicine, Showa University, Fujigaoka Hospital, 1 30, Fujigaoka, Aobaku, Yokohamashi 227 0043, Japan
    Muscle Nerve 25:207-11. 2002
    ..This assay is noninvasive, has the advantage of unbiased automatic data collection, and should be useful for quantifying the mdx deficit in therapeutic studies...

Research Grants4

  1. RANDOM MUTAGENESIS SCREEN FOR BEHAVIORAL MUTANTS IN MICE
    Maja Bucan; Fiscal Year: 2002
    ....
  2. Functional map of a segment on mouse chromosome 5
    Maja Bucan; Fiscal Year: 2006
    ..abstract_text> ..
  3. Genetics of rest:activity behavior in the mouse
    Maja Bucan; Fiscal Year: 2006
    ..Human orthologs of loci defined by these single gene mutations may represent additive or interactive contributions to the polygenic component of inherited psychiatric and sleep disorders. ..
  4. Analysis of circadian profiles in cultured fibroblasts
    Maja Bucan; Fiscal Year: 2007
    ..This highly exploratory project has a tremendous potential for accelerating our understanding of the genetic basis of an important mental disorder. [unreadable] [unreadable] [unreadable]..