Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention

- Forbes, Elana J., Morison, Lottie D., Morgan, Angela T., Lelik, Fatma, Howell, Tegan, Debono, Simone, Goel, Himanshu, Burger, Pauline, Mandel, Jean-Louis, Geneviève, David, Amor, David J.

De novo variants in CNOT1, a central component of the CCR4-NOT complex involved in gene expression and RNA and protein stability, cause neurodevelopmental delay

- Vissers, Lisenka E. L. M., Kalvakuri, Sreehari, de Boer, Elke, Geuer, Sinje, Oud, Machteld, van Outersterp, Inge, Kwint, Michael, Witmond, Melde, Kersten, Simone, Polla, Daniel L., Weijers, Dilys, Begtrup, Amber, McWalter, Kristy, Ruiz, Anna, Gabau, Elisabeth, Morton, Jenny E. V., Griffith, Christopher, Weiss, Karin, Gamble, Candace, Bartley, James, Goel, Himanshu

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

- Wolfe, Kate, McQuillin, Andrew, Goel, Himanshu, Loddo, Sara, Morrogh, Deborah, Mosca-Boidron, Anne-Laura, Novelli, Antonio, Olivier-Faivre, Laurence, Parker, Jennifer, Parker, Michael J., Patch, Christine, Pelling, Anna L., Alesi, Viola, Smol, Thomas, Tümer, Zeynep, Vanakker, Olivier, van Haeringen, Arie, Vanlerberghe, Clemence, Strydom, Andre, Skuse, David, Bass, Nick, Boudry Labis, Elise, Cutajar, Peter, Dallapiccola, Bruno, Dentici, Maria Lisa, Dieux-Coeslier, Anne, Duban-Bedu, Benedicte, Duelund Hjortshøj, Tina

A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an Indigenous Australian family

- Burdon, Kathryn P., Durkin, Shane R., Burke, Mary, Edwards, Matthew, Pater, John, Straga, Tania, Gecz, Jozef, Liebelt, Jan E., Craig, Jamie E.