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 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

Collaborators

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

Detail Information

Publications3

  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 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...