Publications
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nat Genet 47, 528-34 (2015).
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife 4, e06602 (2015).
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. Nat Genet 48, 1071-6 (2016).
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet 49, 457-464 (2017).