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1. Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing. Issue 8 (23rd June 2020)

2. Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome. Issue 5 (5th March 2020)

3. Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes. (20th July 2018)