Maria Fischer

Summary

Affiliation: Innsbruck Medical University
Country: Austria

Publications

  1. pmc SIMPLEX: cloud-enabled pipeline for the comprehensive analysis of exome sequencing data
    Maria Fischer
    Division for Bioinformatics, Biocenter, Innsbruck Medical University, Innsbruck, Austria
    PLoS ONE 7:e41948. 2012
  2. pmc Transcriptional regulatory program in wild-type and retinoblastoma gene-deficient mouse embryonic fibroblasts during adipocyte differentiation
    Robab Hakim-Weber
    Biocenter, Division of Bioinformatics, Innsbruck Medical University, Austria
    BMC Res Notes 4:157. 2011
  3. pmc A survey of tools for variant analysis of next-generation genome sequencing data
    Stephan Pabinger
    Division for Bioinformatics, Innsbruck Medical University, Innrain 80, 6020 Innsbruck, Austria Tel 43 512 9003 71401 Fax 43 512 9003 73100
    Brief Bioinform 15:256-78. 2014
  4. pmc SeqBench: integrated solution for the management and analysis of exome sequencing data
    Andreas Dander
    Division for Bioinformatics, Biocenter, Innsbruck Medical University, Innsbruck, Austria
    BMC Res Notes 7:43. 2014
  5. pmc Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome
    Anna Schossig
    Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria
    Am J Hum Genet 90:701-7. 2012
  6. ncbi Co-expressed genes prepositioned in spatial neighborhoods stochastically associate with SC35 speckles and RNA polymerase II factories
    Dietmar Rieder
    Division of Bioinformatics, Biocenter, Innsbruck Medical University, Innrain 80, 6020, Innsbruck, Austria
    Cell Mol Life Sci 71:1741-59. 2014

Collaborators

  • Zlatko Trajanoski
  • Johannes Zschocke
  • Caspar Grond-Ginsbach
  • James G McNally
  • Christian Ploner
  • Katharina Wimmer
  • Stephan Pabinger
  • Gernot Stocker
  • Andreas Dander
  • Dietmar Rieder
  • Anne M Krogsdam
  • Anna Schossig
  • Robab Hakim-Weber
  • Marcel Scheideler
  • Christian Dani
  • Waltraud G Müller
  • Ez Zoubir Amri
  • Michael Sperk
  • Annette Deichmann
  • Christine Fauth
  • Edda Haberlandt
  • Albert Amberger
  • Nicole I Wolf
  • Alfried Kohlschütter
  • Martin J Koch
  • Otmar Tönz
  • Bernhard Steiner
  • Christof von Kalle
  • Dieter Kotzot
  • Claus R Bartram
  • Christine Fischer
  • Barbara Burwinkel
  • Andreas Prokesch
  • Hubert Hackl
  • Karsten Kristiansen
  • Stefan R Bornstein
  • Lise Madsen
  • Juliane G Bogner-Strauss
  • Claus Jørgensen
  • Jacob B Hansen

Detail Information

Publications6

  1. pmc SIMPLEX: cloud-enabled pipeline for the comprehensive analysis of exome sequencing data
    Maria Fischer
    Division for Bioinformatics, Biocenter, Innsbruck Medical University, Innsbruck, Austria
    PLoS ONE 7:e41948. 2012
    ..The pipeline is continuously tested and is publicly available under the GPL as a VirtualBox or Cloud image at http://simplex.i-med.ac.at; additional supplementary data is provided at http://www.icbi.at/exome...
  2. pmc Transcriptional regulatory program in wild-type and retinoblastoma gene-deficient mouse embryonic fibroblasts during adipocyte differentiation
    Robab Hakim-Weber
    Biocenter, Division of Bioinformatics, Innsbruck Medical University, Austria
    BMC Res Notes 4:157. 2011
    ..abstract:..
  3. pmc A survey of tools for variant analysis of next-generation genome sequencing data
    Stephan Pabinger
    Division for Bioinformatics, Innsbruck Medical University, Innrain 80, 6020 Innsbruck, Austria Tel 43 512 9003 71401 Fax 43 512 9003 73100
    Brief Bioinform 15:256-78. 2014
    ..Our comprehensive survey and evaluation of NGS tools provides a valuable guideline for human geneticists working on Mendelian disorders, complex diseases and cancers. ..
  4. pmc SeqBench: integrated solution for the management and analysis of exome sequencing data
    Andreas Dander
    Division for Bioinformatics, Biocenter, Innsbruck Medical University, Innsbruck, Austria
    BMC Res Notes 7:43. 2014
    ..A widely applied method to identify causing mutations of diseases is exome sequencing, which proved to be cost-effective and time-saving...
  5. pmc Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome
    Anna Schossig
    Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria
    Am J Hum Genet 90:701-7. 2012
    ..Our finding that ROGDI mutations cause KTS indicates that the protein product of this gene plays an important role in neuronal development as well as amelogenesis...
  6. ncbi Co-expressed genes prepositioned in spatial neighborhoods stochastically associate with SC35 speckles and RNA polymerase II factories
    Dietmar Rieder
    Division of Bioinformatics, Biocenter, Innsbruck Medical University, Innrain 80, 6020, Innsbruck, Austria
    Cell Mol Life Sci 71:1741-59. 2014
    ..We conclude that the spatial organization of these genes is a two-step process in which transcription-induced association with nuclear bodies enhances and refines a pre-existing global organization. ..