Journal
- Clinical genetics7
- American journal of medical genetics4
- Human mutation4
- Journal of medical genetics3
- Annals of neurology1
- Biotechnology and bioengineering1
- EMBO molecular medicine1
- Epilepsia1
- Genetics in medicine1
- JBMR plus1
- Journal of bone and mineral research1
- Journal of cranio-maxillofacial surgery1
- Ophthalmic genetics1
- Prenatal diagnosis1