Publications
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. Am J Hum Genet 99, 1229-1244 (2016).
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. J Med Genet 53, 608-15 (2016).