C. Cliffe

Antenatal haemoglobinopathy screening – Experiences of a large Australian Centre

G. Kidson‐Gerber, Sylvia Ai, C. Cliffe, 2020, Obstetric medicine.

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation

P. Scuffham, J. Braithwaite, N. Laing, 2022, Journal of personalized medicine.

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.

N. Brown, S. Sandaradura, T. Roscioli, 2020, JAMA.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Clinically Responsive Genomic Analysis Pipelines: Elements to improve detection rate and efficiency.

S. Sandaradura, T. Roscioli, J. Fletcher, 2021, The Journal of molecular diagnostics : JMD.