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Select item 73573951.

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 Sebire, Nicolas Deconinck, Wen-Lang Fan, Shih-Chi Su, Wen-Hung Chung, Edith P. Almanza Fuerte, Michele G. Mehaffey, University of Washington Center for Mendelian Genomics, Ching-Ching Ng, Chung-Kin Chan, Kheng-Seang Lim, Richard J. Leventer, Paul J. Lockhart, Kate Riney, John A. Damiano, Michael S. Hildebrand, Ghayda M. Mirzaa, William B. Dobyns, Samuel F. Berkovic, Ingrid E. Scheffer, Jin-Wu Tsai, Heather C. Mefford

Neuron. Author manuscript; available in PMC 2021 Apr 22.

Published in final edited form as: Neuron. 2020 Apr 22; 106(2): 237–245.e8. Published online 2020 Feb 24. doi: 10.1016/j.neuron.2020.01.027

PMCID:: PMC7357395

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Select item 68175482.

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

Sangmoon Lee, Dillon Y. Chen, Maha S. Zaki, Reza Maroofian, Henry Houlden, Nataliya Di Donato, Dalia Abdin, Heba Morsy, Ghayda M. Mirzaa, William B. Dobyns, Jennifer McEvoy-Venneri, Valentina Stanley, Kiely N. James, Grazia M.S. Mancini, Rachel Schot, Tugba Kalayci, Umut Altunoglu, Ehsan Ghayoor Karimiani, Lauren Brick, Mariya Kozenko, Yalda Jamshidi, M. Chiara Manzini, Mehran Beiraghi Toosi, Joseph G. Gleeson

Am J Hum Genet. 2019 Oct 3; 105(4): 844–853. Published online 2019 Oct 3. doi: 10.1016/j.ajhg.2019.08.013