Functional genomic screen for modulators of ciliogenesis and cilium length

Joon Kim, Ji Eun Lee, Susanne Heynen‐Genel, +6

Nature

Functional GenomicsDevelopmental BiologyCilium LengthGeneticsGenomic Mechanism +8

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

Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli, +48

Nature Genetics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsMolecular Genetics +6

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, +6

Journal of Medical Genetics

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

Ji Eun Lee, Jennifer L. Silhavy, Maha S. Zaki, +27

Nature Genetics

Mendelian DisorderJoubert SyndromeGenetic DisorderGeneticsPathology +6

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

Susanne Roosing, Matan Hofree, Sehyun Kim, +41

eLife

Canonical Wnt signaling through Lef1 is required for hypothalamic neurogenesis

Ji Eun Lee, Shan-Fu Wu, Lisa M. Goering, +1

Development

Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

Jeong Ho Lee, Jennifer L. Silhavy, Ji Eun Lee, +27

Science

BiologyDevelopmental BiologyFunctional GenomicsHuman Ciliopathy LocusJoubert Syndrome +13

Off-Target Effect of doublecortin Family shRNA on Neuronal Migration Associated with Endogenous MicroRNA Dysregulation

Seung Tae Baek, Géraldine Kerjan, Stephanie Bielas, +4

Neuron

Off-target EffectMolecular NeuroscienceSynaptic SignalingMedicineMicrorna Detection +8

A systems-biology approach to understanding the ciliopathy disorders

Ji Eun Lee, Joseph G. Gleeson

Genome Medicine

Neurological DisorderGeneticsCiliopathy DisordersPrimary CiliumDisease Gene Identification +17

Endogenous Peptide Discovery of the Rat Circadian Clock

Ji Eun Lee, Norman Atkins, Nathan G. Hatcher, +4

Molecular & Cellular Proteomics

Small Brain RegionSocial SciencesUnidentified PeptidesNeuroendocrine MechanismHypothalamic Peptide +20