Publications
Journal Articles
Lennox, Ashley L., Hoye, Mariah L., Jiang, Ruiji, Johnson-Kerner, Bethany L., Suit, Lindsey A., Venkataramanan, Srivats, Sheehan, Charles J., Alsina, Fernando C., Fregeau, Brieana, Aldinger, Kimberly A., Moey, Ching, Lobach, Iryna, Afenjar, Alexandra, Babovic-Vuksanovic, Dusica, Bézieau, Stéphane, Blackburn, Patrick R., Bunt, Jens, Burglen, Lydie, Campeau, Philippe M., Charles, Perrine, Chung, Brian H.Y., Cogné, Benjamin, Curry, Cynthia, D'Agostino, Maria Daniela, Di Donato, Nataliya, Faivre, Laurence, Héron, Delphine, Innes, A. Micheil, Isidor, Bertrand ... Sherr, Elliott H. (2020). Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development. Neuron, 106 (3), 404-420.e8. doi: 10.1016/j.neuron.2020.01.042
Mattiske, Tessa, Moey, Ching, Vissers, Lisenka E., Thorne, Natalie, Georgeson, Peter, Bakshi, Madhura and Shoubridge, Cheryl (2017). An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX. Human Mutation, 38 (5), 548-555. doi: 10.1002/humu.23190
Moey, Ching, Topper, Scott, Karn, Mary, Johnson, Amy Knight, Das, Soma, Vidaurre, Jorge and Shoubridge, Cheryl (2016). Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX. European Journal of Human Genetics, 24 (5), 681-689. doi: 10.1038/ejhg.2015.176
Moey, Ching, Hinze, Susan J., Brueton, Louise, Morton, Jenny, McMullan, Dominic J., Kamien, Benjamin, Barnett, Christopher P., Brunetti-Pierri, Nicola, Nicholl, Jillian, Gecz, Jozef and Shoubridge, Cheryl (2016). Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders. European Journal of Human Genetics, 24 (3), 373-380. doi: 10.1038/ejhg.2015.123