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• Complex genomic rearrangement in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapula  Academic Article
• Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma  Academic Article
• Pregnancy outcomes from more than 1,800 in vitro fertilization cycles with the use of 24-chromosome single-nucleotide polymorphism-based preimplantation genetic testing for aneuploidy  Academic Article
• SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage  Academic Article
• The TLX1 oncogene drives aneuploidy in T cell transformation  Academic Article
• Towards a comprehensive structural variation map of an individual human genome  Academic Article