Janna Saarela

Summary

Affiliation: University of Helsinki
Country: Finland

Publications

  1. pmc High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results
    Linda Siggberg
    Department of Pathology, Haartman Institute, University of Helsinki, Finland
    BMC Med Genet 13:84. 2012
  2. pmc Comparison of solution-based exome capture methods for next generation sequencing
    Anna Maija Sulonen
    Institute for Molecular Medicine Finland FIMM, University of Helsinki, Biomedicum Helsinki 2U, Tukholmankatu 8, 00290 Helsinki, Finland
    Genome Biol 12:R94. 2011
  3. pmc Allelic variants of IL1R1 gene associate with severe hand osteoarthritis
    Annu Näkki
    Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland
    BMC Med Genet 11:50. 2010
  4. pmc No evidence for shared etiology in two demyelinative disorders, MS and PLOSL
    Anna Maija Sulonen
    Finnish Institute for Molecular Medicine, FIMM, and National Public Health Institute, Biomedicum, Helsinki, Finland
    J Neuroimmunol 206:86-90. 2009
  5. pmc Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene
    Eveliina Jakkula
    Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland
    Am J Hum Genet 86:285-91. 2010
  6. pmc Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS
    Suvi P Kallio
    Finnish Institute for Molecular Medicine, Biomedicum, Helsinki, Finland
    Hum Mol Genet 18:1670-83. 2009
  7. pmc Gender differences in genetic risk profiles for cardiovascular disease
    Kaisa Silander
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    PLoS ONE 3:e3615. 2008
  8. doi request reprint Candidate gene association study of magnetic resonance imaging-based hip osteoarthritis (OA): evidence for COL9A2 gene as a common predisposing factor for hip OA and lumbar disc degeneration
    Annu Näkki
    Institute for Molecular Medicine Finland FIMM, Biomedicum Helsinki 2U, University of Helsinki, Helsinki, Finland
    J Rheumatol 38:747-52. 2011
  9. pmc Risk alleles of USF1 gene predict cardiovascular disease of women in two prospective studies
    Kati Komulainen
    Department of Molecular Medicine, National Public Health Institute, Biomedicum, Helsinki, Finland
    PLoS Genet 2:e69. 2006
  10. ncbi request reprint A quality assessment survey of SNP genotyping laboratories
    Paivi Lahermo
    Finnish Genome Center, University of Helsinki, Helsinki, Finland
    Hum Mutat 27:711-4. 2006

Collaborators

Detail Information

Publications16

  1. pmc High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results
    Linda Siggberg
    Department of Pathology, Haartman Institute, University of Helsinki, Finland
    BMC Med Genet 13:84. 2012
    ..Array methods that facilitate copy number analysis have enabled the diagnosis of up to 20% more patients with previously normal karyotyping results. A substantial number of patients remain undiagnosed, however...
  2. pmc Comparison of solution-based exome capture methods for next generation sequencing
    Anna Maija Sulonen
    Institute for Molecular Medicine Finland FIMM, University of Helsinki, Biomedicum Helsinki 2U, Tukholmankatu 8, 00290 Helsinki, Finland
    Genome Biol 12:R94. 2011
    ..A control DNA sample was captured with all four capture methods and prepared for Illumina GAII sequencing. Sequence data from additional samples prepared with the same protocols were also used in the comparison...
  3. pmc Allelic variants of IL1R1 gene associate with severe hand osteoarthritis
    Annu Näkki
    Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland
    BMC Med Genet 11:50. 2010
    ..In this study we targeted a 470 kb region on 2q11.2 presenting the locus with most evidence for linkage to severe OA of distal interphalangeal joints (DIP) in our genome wide scan families...
  4. pmc No evidence for shared etiology in two demyelinative disorders, MS and PLOSL
    Anna Maija Sulonen
    Finnish Institute for Molecular Medicine, FIMM, and National Public Health Institute, Biomedicum, Helsinki, Finland
    J Neuroimmunol 206:86-90. 2009
    ..To conclude, the DAP12-TREM2 complex unlikely has a role in genetic susceptibility of MS...
  5. pmc Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene
    Eveliina Jakkula
    Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland
    Am J Hum Genet 86:285-91. 2010
    ..This study also demonstrates the potential of special isolated populations in search for variants contributing to complex traits...
  6. pmc Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS
    Suvi P Kallio
    Finnish Institute for Molecular Medicine, Biomedicum, Helsinki, Finland
    Hum Mol Genet 18:1670-83. 2009
    ..These results suggest that the MS predisposing locus on 5p is more complex than assumed and exemplify power of population isolates in the identification of rare disease alleles...
  7. pmc Gender differences in genetic risk profiles for cardiovascular disease
    Kaisa Silander
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    PLoS ONE 3:e3615. 2008
    ..We aimed to estimate whether the genetic risk profiles of coronary heart disease (CHD), ischemic stroke and the composite end-point of CVD differ between the genders...
  8. doi request reprint Candidate gene association study of magnetic resonance imaging-based hip osteoarthritis (OA): evidence for COL9A2 gene as a common predisposing factor for hip OA and lumbar disc degeneration
    Annu Näkki
    Institute for Molecular Medicine Finland FIMM, Biomedicum Helsinki 2U, University of Helsinki, Helsinki, Finland
    J Rheumatol 38:747-52. 2011
    ..To study whether gene variants associated with lumbar disc degeneration (LDD) phenotypes are also associated with hip osteoarthritis (OA)...
  9. pmc Risk alleles of USF1 gene predict cardiovascular disease of women in two prospective studies
    Kati Komulainen
    Department of Molecular Medicine, National Public Health Institute, Biomedicum, Helsinki, Finland
    PLoS Genet 2:e69. 2006
    ....
  10. ncbi request reprint A quality assessment survey of SNP genotyping laboratories
    Paivi Lahermo
    Finnish Genome Center, University of Helsinki, Helsinki, Finland
    Hum Mutat 27:711-4. 2006
    ..Lessons from the survey are that special attention should be given to the quality of the DNA samples prior to genotyping, and that a conservative approach for calling the genotypes should be used to achieve a high accuracy...
  11. pmc MYO9B polymorphisms in multiple sclerosis
    Anu Kemppinen
    Department of Molecular Medicine, National Public Health Institute and Institute for Molecular Medicine Finland, FIMM, Helsinki, Finland
    Eur J Hum Genet 17:840-3. 2009
    ..Our results thereby do not support a major function of the tested MYO9B variants in MS...
  12. ncbi request reprint Evaluating whole genome amplification via multiply-primed rolling circle amplification for SNP genotyping of samples with low DNA yield
    Kaisa Silander
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    Twin Res Hum Genet 8:368-75. 2005
    ..Thus, WGA is applicable for low DNA yield samples, especially if using pooled WGA samples. A higher rate of genotyping errors requires that increased attention be paid to genotyping quality control, and caution when interpreting results...
  13. pmc PRKCA and multiple sclerosis: association in two independent populations
    Janna Saarela
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    PLoS Genet 2:e42. 2006
    ....
  14. ncbi request reprint Interleukin 1 polymorphisms and intervertebral disc degeneration
    Svetlana Solovieva
    Department of Epidemiology and Biostatistics, Finnish Institute of Occupational Health, Helsinki, Finland
    Epidemiology 15:626-33. 2004
    ..We investigated whether polymorphisms within the IL-1 gene locus are associated with lumbar disc degeneration and whether the effect of occupational physical load on disc degeneration is modified by the polymorphisms...
  15. pmc Somatic STAT3 mutations in large granular lymphocytic leukemia
    Hanna L M Koskela
    Hematology Research Unit Helsinki, Department of Medicine, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    N Engl J Med 366:1905-13. 2012
    ....
  16. doi request reprint Whole genome amplification with Phi29 DNA polymerase to enable genetic or genomic analysis of samples of low DNA yield
    Kaisa Silander
    National Public Health Institute, Helsinki, Finland
    Methods Mol Biol 439:1-18. 2008
    ..This chapter reviews the various applications in which whole genome amplified DNA can be used, the types of commercial kits available, and the quality control steps necessary before using the DNA in the genetic studies...