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 · 537 citations · Full text

Functional Genomics, Developmental Biology, Cilium Length +10

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 · 281 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

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

Fernando J. Martínez, Jeong Ho Lee, Ji Eun Lee et al. · Journal of Medical Genetics · 2012 · 229 citations · Full text

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 · 188 citations

Mendelian Disorder, Joubert Syndrome, Genetic Disorder +8

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

Susanne Roosing, Matan Hofree, Sehyun Kim et al. · eLife · 2015 · 120 citations · Full text