Women's and Children's Hospital Adelaide

Top Publications

Top Publications Authored or Co-Authored in "Women's and Children's Hospital Adelaide"

• A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

  Nature Genetics, Volume 41, No. 5, Year 2009, Citations 599
• Treatment of Fabry's disease with the pharmacologic chaperone migalastat

  New England Journal of Medicine, Volume 375, No. 6, Year 2016, Citations 363
• Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

  Genetics in Medicine, Volume 13, No. 3, Year 2011, Citations 303
• ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

  Human Molecular Genetics, Volume 11, No. 8, Year 2002, Citations 280
• The efficacy of playing a virtual reality game in modulating pain for children with acute burn injuries: A randomized controlled trial [ISRCTN87413556]

  BMC Pediatrics, Volume 5, Article 1, Year 2005, Citations 243