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5. Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. Issue 11 (1st June 2013)

8. Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease. Issue 5 (10th May 2015)

9. KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating. Issue 23 (10th July 2021)