Susan M. White
Royal Children's Hospital(AU)The University of Melbourne(AU)University of Divinity(AU)Victorian Clinical Genetics Services(AU)Murdoch Children's Research Institute(AU)Murdoch Children's Research Institute(AU)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, RNA modifications and cancer, Epigenetics and DNA Methylation
Most-Cited Works
- → Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases(2018)622 cited
- → A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders(2016)405 cited
- → Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions(2017)322 cited
- Microsatellite instability and the role of hMSH2 in sporadic colorectalcancer.(1996)
- → Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia(2016)238 cited
- → Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement(2017)238 cited