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Showing results 1 to 8 of 8

1
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Lee, Ji Eun; Silhavy, Jennifer L.; Zaki, Maha S.; Schroth, Jana; Bielas, Stephanie L.; Marsh, Sarah E.; Olvera, Jesus; et al, NATURE GENETICS, v.44, no.2, pp.193 - 199, 2012-02

2
Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

Lee, Jeong Ho; Silhavy, Jennifer L.; Lee, Ji Eun; Al-Gazali, Lihadh; Thomas, Sophie; Davis, Erica E.; Bielas, Stephanie L.; et al, SCIENCE, v.335, no.6071, pp.966 - 969, 2012-02

3
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Roosing, Susanne; Hofree, Matan; Kim, Sehyun; Scott, Eric; Copeland, Brett; Romani, Marta; Silhavy, Jennifer L; et al, ELIFE, v.4, 2015-05

4
Functional genomic screen for modulators of ciliogenesis and cilium length

Kim, Joon; Lee, Ji Eun; Heynen-Genel, Susanne; Suyama, Eigo; Ono, Keiichiro; Lee, KiYoung; Ideker, Trey; et al, NATURE, v.464, no.7291, pp.1048 - 1051, 2010-04

5
Genome-wide RNA interference screening reveals a COPI-MAP2K3 pathway required for YAP regulation

Kim, Yong Joon; Jung, Eunji; Shin, Eunbie; Hong, Sin-Hyoung; Jeong, Hui Su; Hur, Gayeong; Jeong, Hye Yun; et al, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, v.117, no.33, pp.19994 - 20003, 2020-08

6
Genome-wide screen identifies novel machineries required for both ciliogenesis and cell cycle arrest upon serum starvation

Kim, Ji Hyun; Ki, Soo Mi; Joung, Je-Gun; Scott, Eric; Heynen-Genel, Susanne; Aza-Blanc, Pedro; Kwon, Chang Hyuk; et al, BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH, v.1863, no.6, pp.1307 - 1318, 2016-06

7
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Valente, Enza Maria; Logan, Clare V.; Mougou-Zerelli, Soumaya; Lee, Jeong Ho; Silhavy, Jennifer L.; Brancati, Francesco; Iannicelli, Miriam; et al, NATURE GENETICS, v.42, no.7, pp.619 - 625, 2010-07

8
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome

Martinez, Fernando Jose; Lee, Jeong Ho; Lee, Ji Eun; Blanco, Sandra; Nickerson, Elizabeth; Gabriel, Stacey; Frye, Michaela; et al, JOURNAL OF MEDICAL GENETICS, v.49, no.6, pp.380 - 385, 2012-06

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