Neurodevelopmental disorders:

DOORS syndrome (incl. TBC1D24, GPI)

Epigenetic diseases (incl. CHD3, KAT6B)

Skeletal dysplasias:

SMD-CF, other dysplasias

Clinical studies: 

Morquio disease

Achondroplasia (Approach, PROPEL3),

Hypochondroplasia (to come)

Idiopathic Short Stature (to come)