Journal
- Journal of inherited metabolic disease12
- Human mutation11
- Annals of neurology7
- Journal of medical genetics7
- Human molecular genetics4
- Annals of clinical and translational neurology2
- Archives of disease in childhood2
- Circulation2
- EMBO molecular medicine2
- European journal of paediatric neurology2
- Journal of the National Cancer Institute2
- Lancet2
- Parkinsonism & related disorders2
- Autophagy1
- BMC medical genomics1
- Brain1
- Clinical genetics1
- Epigenetics & chromatin1
- European journal of public health1
- FEBS letters1