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1. 15.09 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder. Issue 12 (14th November 2019)

3. A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9. Issue 4 (20th March 2018)

7. Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data. Issue 3 (29th November 2022)