Ji Eun Lee

Functional genomic screen for modulators of ciliogenesis and cilium length

Joon Kim, Ji Eun Lee, Susanne Heynen‐Genel et al. · Nature · 2010 · 557 citations · Full text

Life Sciences, Genetics, Molecular Biology +13

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli et al. · Nature Genetics · 2010 · 285 citations

Life Sciences, Genetics, Molecular Genetics +8

Whole exome sequencing identifies a splicing mutation in <i>NSUN2</i> as a cause of a Dubowitz-like syndrome

Jeong Ho Lee, Ji Eun Lee, Sandra Blanco et al. · Journal of Medical Genetics · 2012 · 234 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Ji Eun Lee, Jennifer L. Silhavy, Maha S. Zaki et al. · Nature Genetics · 2012 · 190 citations

Life Sciences, Genetics, Molecular Biology +9

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Susanne Roosing, Matan Hofree, Sehyun Kim et al. · eLife · 2015 · 122 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15