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1. Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

2. Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

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

4. Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme.

5. RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features

6. Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

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