Journal
- American journal of medical genetics8
- Annals of clinical and translational neurology2
- Annals of neurology1
- Birth defects research1
- Clinical chemistry1
- Electrophoresis1
- Endocrine connections1
- Epilepsia1
- European journal of human genetics1
- European journal of neuroscience2
- FEBS journal1
- Hepatology1
- Human mutation1
- International journal of laboratory hematology1
- JIMD reports5
- Journal of inherited metabolic disease34
- Journal of magnetic resonance imaging1
- Journal of neurology, neurosurgery and psychiatry1
- Neurology1
- Neuroscience and biobehavioral reviews1