Litcius/Paper detail

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

Meng‐Han Tsai, Alison M. Muir, Won‐Jing Wang, Yi-Ning Kang, Kun-Chuan Yang, Nian-Hsin Chao, Mei‐Feng Wu, Ying‐Chao Chang, Brenda E. Porter, Laura A. Jansen, Guillaume Sébire, Nicolas Deconinck, Wen‐Lang Fan, Shih‐Chi Su, Wen‐Hung Chung, Edith P. Almanza Fuerte, Michele G. Mehaffey, Ching Ching Ng, Chung-Kin Chan, Kheng Seang Lim, Richard J. Leventer, Paul J. Lockhart, Kate Riney, John A. Damiano, Michael S. Hildebrand, Ghayda Mirzaa, William B. Dobyns, Samuel F. Berkovic, Ingrid E. Scheffer, Jin‐Wu Tsai, Heather C. Mefford

2020Neuron35 citationsDOIOpen Access PDF

Topics & Concepts

LissencephalyBiologyCentrosomeGeneticsGeneMicrotubuleCell cycleRNA regulation and diseaseRNA Research and SplicingRNA modifications and cancer