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14. Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency. Issue 1 (8th November 2013)

15. Fumarate Hydratase–deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings. (May 2016)

16. Further delineation of dosage‐sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance. Issue 6 (16th February 2023)

18. High-dimensional immune phenotyping and transcriptional analyses reveal robust recovery of viable human immune and epithelial cells from frozen gastrointestinal tissue. Issue 6 (November 2018)

19. HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study. Issue 4 (29th April 2016)

20. Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility. Issue 12 (9th November 2020)