Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype

by de Vos, Ivo J. H. M., Goggi, Julian L., Wilson, Gabrielle R., Stegmann, Alexander P. A., Amor, David J., Dunn, Norris Ray, Carney, Thomas James, Lockhart, Paul J., Coull, Barry J., van Steensel, Maurice A. M., Tao, Evelyn Yaqiong, Ong, Sheena Li Ming, Scerri, Thomas, Low, Chernis Guai Mun, Wong, Arnette Shi Wei, Grussu, Dominic, van Geel, Michel, Janssen, Renske, Bahlo, Melanie
Published 2019

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

by Tsai, Meng Han, Muir, Alison M., Wang, Won nJing, Kang, Yi Ning, Yang, Kun Chuan, Chao, Nian Hsin, Wu, Mei Feng, Chang, Ying Chao, Porter, Brenda E., Jansen, Laura A., Sebire, Guillaume, Deconinck, Nicolas, Fan, Wen Lang, Su, Shih Chi, Chung, Wen Hung, Almanza Fuerte, Edith P., Mehaffey, Michele G., Ng, Ching Ching, Chan, Chung Kin, Lim, Kheng Seang, Leventer, Richard J., Lockhart, Paul J., Riney, Kate, Damiano, John A., Hildebrand, Michael S., Mirzaa, Ghayda M., Dobyns, William B., Berkovic, Samuel F., Scheffer, Ingrid E., Tsai, Jin Wu, Mefford, Heather C.
Published 2020