Stefan J White

Summary

Affiliation: Monash University
Country: Australia

Publications

  1. pmc SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype
    Remko Hersmus
    Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Josephine Nefkens Institute, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
    BMC Med Genet 13:108. 2012
  2. pmc A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development
    Stefan White
    Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Victoria, Australia
    Eur J Hum Genet 20:348-51. 2012
  3. pmc DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours
    Carmela M de Boer
    Center for Reproduction and Development, Monash Institute of Medical Research, Monash University, Clayton, Australia
    BMC Res Notes 5:569. 2012
  4. doi request reprint Detecting DNaseI-hypersensitivity sites with MLPA
    Thomas Ohnesorg
    Molecular Development Laboratory, Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Vic, Australia
    Methods Mol Biol 786:201-10. 2012
  5. doi request reprint Rapid and reliable determination of transgene zygosity in mice by multiplex ligation-dependent probe amplification
    Amanda J Notini
    Murdoch Children s Research Institute and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Melbourne, Vic, Australia
    Transgenic Res 18:987-91. 2009
  6. doi request reprint The many faces of MLPA
    Thomas Ohnesorg
    Molecular Development, Murdoch Children s Research Institute, Royal Children s Hospital, Melbourne, Victoria, Australia
    Methods Mol Biol 687:193-205. 2011
  7. pmc Comprehensive analysis of Copy Number Variation of genes at chromosome 1 and 10 loci associated with late age related macular degeneration
    Stuart Cantsilieris
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia
    PLoS ONE 7:e35255. 2012
  8. doi request reprint Correlating multiallelic copy number polymorphisms with disease susceptibility
    Stuart Cantsilieris
    Centre for Reproduction and Development, Monash Institute of Medical Research, Monash University, Melbourne, Victoria, Australia
    Hum Mutat 34:1-13. 2013

Collaborators

Detail Information

Publications8

  1. pmc SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype
    Remko Hersmus
    Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Josephine Nefkens Institute, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
    BMC Med Genet 13:108. 2012
    ..SRY mutations have also been found in a small number of patients with a 45,X/46,XY karyotype and might play a role in the maldevelopment of the gonads...
  2. pmc A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development
    Stefan White
    Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Victoria, Australia
    Eur J Hum Genet 20:348-51. 2012
    ..Previously described Wwox knockout mouse models showed gonadal abnormalities, supporting a role for WWOX in human gonad development...
  3. pmc DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours
    Carmela M de Boer
    Center for Reproduction and Development, Monash Institute of Medical Research, Monash University, Clayton, Australia
    BMC Res Notes 5:569. 2012
    ..Additional analysis of 14 TGCT DNA samples identified one case that also contained a mutation at one of these sites...
  4. doi request reprint Detecting DNaseI-hypersensitivity sites with MLPA
    Thomas Ohnesorg
    Molecular Development Laboratory, Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Vic, Australia
    Methods Mol Biol 786:201-10. 2012
    ..This chapter outlines the approach and discusses the critical features of each step of the procedure...
  5. doi request reprint Rapid and reliable determination of transgene zygosity in mice by multiplex ligation-dependent probe amplification
    Amanda J Notini
    Murdoch Children s Research Institute and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Melbourne, Vic, Australia
    Transgenic Res 18:987-91. 2009
    ..This probe mix can be easily implemented in any laboratory with access to a PCR machine and a DNA sequencer, and can be rapidly adapted to genotype any additional loci of interest...
  6. doi request reprint The many faces of MLPA
    Thomas Ohnesorg
    Molecular Development, Murdoch Children s Research Institute, Royal Children s Hospital, Melbourne, Victoria, Australia
    Methods Mol Biol 687:193-205. 2011
    ..This chapter outlines the basic MLPA protocol, describes the different modifications and applications that have been published, and discusses the critical points during each of the steps...
  7. pmc Comprehensive analysis of Copy Number Variation of genes at chromosome 1 and 10 loci associated with late age related macular degeneration
    Stuart Cantsilieris
    Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia
    PLoS ONE 7:e35255. 2012
    ..95 1.38-41.8). This is the first report of a phenotype specific association of a CNV for a major subtype of AMD and potentially allows for pre-diagnostic identification of individuals most likely to proceed to this end stage of disease...
  8. doi request reprint Correlating multiallelic copy number polymorphisms with disease susceptibility
    Stuart Cantsilieris
    Centre for Reproduction and Development, Monash Institute of Medical Research, Monash University, Melbourne, Victoria, Australia
    Hum Mutat 34:1-13. 2013
    ....