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1. A loss‐of‐function homozygous mutation in DDX59 implicates a conserved DEAD‐box RNA helicase in nervous system development and function. Issue 2 (27th November 2017)

7. Nonsyndromic Early‐Onset Cone‐Rod Dystrophy and Limb‐Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF. Issue 9 (14th July 2015)