Genomes and Genes
Stefan J White
Affiliation: Monash University
- Identification of Streptococcus parasanguinis DNA contamination in human buccal DNA samplesIstiak 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...
- SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotypeRemko 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...
- A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex developmentStefan 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...
- Technical considerations for genotyping multi-allelic copy number variation (CNV), in regions of segmental duplicationStuart 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...
- No TAP63 promoter mutation is detected in bladder exstrophy-epispadias complex patientsTom 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...
- Detecting DNaseI-hypersensitivity sites with MLPAThomas 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...
- DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumoursCarmela 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...
- Correlating multiallelic copy number polymorphisms with disease susceptibilityStuart Cantsilieris
Centre for Reproduction and Development, Monash Institute of Medical Research, Monash University, Melbourne, Victoria, Australia
Hum Mutat 34:1-13. 2013....
- Comprehensive analysis of Copy Number Variation of genes at chromosome 1 and 10 loci associated with late age related macular degenerationStuart 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...
- The many faces of MLPAThomas 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...
- Rapid and reliable determination of transgene zygosity in mice by multiplex ligation-dependent probe amplificationAmanda 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...