Mutations in <i>CEP120</i> cause Joubert syndrome as well as complex ciliopathy phenotypesSusanne Roosing, Enza Maria Valente, Marta Romani et al.|Journal of Medical Genetics|2016Cited by 65
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal DefectsRoberta De Mori, Enza Maria Valente, Elisa Lorefice et al.|The American Journal of Human Genetics|2017Cited by 63