De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.

Comparative characterization of human induced pluripotent stem cells (hiPSC) derived from patients with schizophrenia and autism.

Tumor mutation burden and circulating tumor DNA in combined CTLA-4 and PD-1 antibody therapy in metastatic melanoma – results of a prospective biomarker study.

Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient.