D. McArthur

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains

K. Bushby, Hanns Lochmüller, A. Ferlini, 2017, Neuromuscular Disorders.

Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome

M. Lek, Hanns Lochmüller, T. Evangelista, 2018, Neurology: Genetics.

Clinical presentation and proteomic signature of patients with TANGO2 mutations

Robert W. Taylor, F. Tort, L. Waddell, 2019, Journal of inherited metabolic disease.