Joseph Shen

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

S. Grimmond, R. Taft, A. Verloes, 2015, Nature Genetics.

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.

Takako Sasaki, S. Ellard, Stacey L. Cole, 2022, American journal of human genetics.

Correction: Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

S. Grimmond, R. Taft, A. Verloes, 2015, Nature Genetics.

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

S. Grimmond, R. Taft, A. Verloes, 2014, Nature Genetics.