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2. Comparative Analysis and Functional Mapping of SACS Mutations Reveal Novel Insights into Sacsin Repeated Architecture. Issue 3 (18th February 2013)

3. Corrigendum: Platinated Nucleotides are Substrates for the Human Mitochondrial Deoxynucleotide Carrier (DNC) and DNA Polymerase γ: Relevance for the Development of New Platinum‐Based Drugs. Issue 20 (15th December 2016)

5. Dissecting KMT2D missense mutations in Kabuki syndrome patients. (22nd June 2018)

9. Novel Dynein DYNC1H1 Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development. Issue 3 (3rd January 2014)

10. Novel MTCYB mutation in a young patient with recurrent stroke‐like episodes and status epilepticus. Issue 11 (14th August 2014)