Journal
- American journal of medical genetics5
- Human mutation5
- Journal of medical genetics4
- Human molecular genetics2
- Journal of bone and mineral research2
- Annals of otology, rhinology & laryngology1
- British journal of haematology1
- Clinical genetics1
- Disability and rehabilitation1
- EMBO molecular medicine1
- Molecular genetics & genomic medicine1
- Otology & neurotology1
- Retina1