Stefan J White

Summary

Affiliation: Monash University
Country: Australia

Publications

  1. ncbi request reprint Identification of Streptococcus parasanguinis DNA contamination in human buccal DNA samples
    Istiak Mahfuz
    Centre for Genetic Diseases, Monash Institute of Medical Research, Monash University, 27 31 Wright Street, Clayton 3168, Vic, Australia
    BMC Res Notes 6:481. 2013
  2. 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
  3. 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
  4. pmc Technical considerations for genotyping multi-allelic copy number variation (CNV), in regions of segmental duplication
    Stuart Cantsilieris
    Centre for Genetic Diseases, MIMR PHI Institute of Medical Research, Monash University, 27 31 Wright Street, Clayton 3168, Victoria, Australia
    BMC Genomics 15:329. 2014
  5. doi request reprint No TAP63 promoter mutation is detected in bladder exstrophy-epispadias complex patients
    Tom Darling
    Monash Institute of Medical Research, Monash University, Melbourne, Australia
    J Pediatr Surg 48:2393-400. 2013
  6. 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
  7. 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
  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
  9. 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
  10. 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

Collaborators

Detail Information

Publications11

  1. ncbi request reprint Identification of Streptococcus parasanguinis DNA contamination in human buccal DNA samples
    Istiak Mahfuz
    Centre for Genetic Diseases, Monash Institute of Medical Research, Monash University, 27 31 Wright Street, Clayton 3168, Vic, Australia
    BMC Res Notes 6:481. 2013
    ..The use of buccal swabs in clinical and scientific studies is a very popular method of collecting DNA, due to its non-invasive nature of collection. However, contamination of the DNA sample may interfere with analysis...
  2. 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...
  3. 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...
  4. pmc Technical considerations for genotyping multi-allelic copy number variation (CNV), in regions of segmental duplication
    Stuart Cantsilieris
    Centre for Genetic Diseases, MIMR PHI Institute of Medical Research, Monash University, 27 31 Wright Street, Clayton 3168, Victoria, Australia
    BMC Genomics 15:329. 2014
    ..Therefore any technique prone to degrees of measurement error can produce ambiguous results that may lead to spurious associations with complex disease...
  5. doi request reprint No TAP63 promoter mutation is detected in bladder exstrophy-epispadias complex patients
    Tom Darling
    Monash Institute of Medical Research, Monash University, Melbourne, Australia
    J Pediatr Surg 48:2393-400. 2013
    ..In this study, we specifically examined the TAP63 promoter to see if any sequence changes might lead to up-regulation of TAP63 and exaggerated apoptosis in BEEC patients...
  6. 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...
  7. 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...
  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
    ....
  9. 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...
  10. 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...
  11. 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...