Publications
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat 39, 152-166 (2018).
Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type. Clin Genet 92, 158-165 (2017).
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. Nat Commun 6, 7092 (2015).