Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

- Peluso, Francesca, Caraffi, Stefano G., Bisgaard, Anne-Marie, Ivanovski, Ivan, Maitz, Silvia, Brischoux-Boucher, Elise, Carter, Melissa T., Dentici, Maria Lisa, Devriendt, Koenraad, Bellini, Melissa, Digilio, Maria Cristina, Doja, Asif, Contrò, Gianluca, Dyment, David A., Farholt, Stense, Ferreira, Carlos R., Wolfe, Lynne A., Gahl, William A., Gnazzo, Maria, Goel, Himanshu, Gronborg, Sabine Weller, Hammer, Trine, Iughetti, Lorenzo, Valeri, Lara, Kleefstra, Tjitske, Koolen, David A., Lepri, Francesca Romana, Lemire, Gabrielle, Louro, Pedro, McCullagh, Gary, Madeo, Simona F., Milone, Annarita, Milone, Roberta, Nielsen, Jens Erik Klint, Napoli, Manuela, Novelli, Antonio, Ockeloen, Charlotte W., Pascarella, Rosario, Pippucci, Tommaso, Ricca, Ivana, Robertson, Stephen P., Sawyer, Sarah, Falkenberg Smeland, Marie, Stegmann, Sander, Stumpel, Constanze T., Carboni, Giorgia, Goel, Amy, Taylor, Juliet M., Barbuti, Domenico, Soresina, Annarosa, Bedeschi, Maria Francesca, Battini, Roberta, Cavalli, Anna, Fusco, Carlo, Iascone, Maria, Van Maldergem, Lionel, Seth, Alka, Venkateswaran, Sunita, Zuffardi, Orsetta, Vergano, Samantha, Garavelli, Livia, Bayat, Allan, Zuntini, Roberta, Coccia, Emanuele, Astrea, Guja

ALG1-CDG: clinical and molecular characterization of 39 unreported patients

- Ng, Bobby G., Shiryaev, Sergey A., Barone, Rita, Berry, Gerard T., Brumbaugh, Jane E., Buckingham, Kati J., Clarkson, Katie, Cole, F. Sessions, O'Connor, Shawn, Cooper, Gregory M., Van Coster, Rudy, Demmer, Laurie A., Rymen, Daisy, Diogo, Luisa, Fay, Alexander J., Ficicioglu, Can, Fiumara, Agata, Gahl, William A., Ganetzky, Rebecca, Goel, Himanshu, Harshman, Lyndsay A., He, Miao, Jaeken, Jaak, Eklund, Erik A., James, Philip M., Katz, Daniel, Keldermans, Liesbeth, Kibaek, Maria, Kornberg, Andrew J., Lachlan, Katherine, Lam, Christina, Yaplito-Lee, Joy, Nickerson, Deborah A., Peters, Heidi L., Raymond, Kimiyo, Race, Valerie, Régal, Luc, Rush, Jeffrey S., Rutledge, S. Lane, Shendure, Jay, Souche, Erika, Sparks, Susan E., Trapane, Pamela, Sanchez-Valle, Amarillis, Vilain, Eric, Kircher, Martin, Vøllo, Arve, Waechter, Charles J., Wang, Raymond Y., Wolfe, Lynne A., Wong, Derek A., Wood, Tim, Yang, Amy C., Matthijs, Gert, Freeze, Hudson H., University of Washington Center for Mendelian Genomics, Abdenur, Jose E., Alehan, Fusun, Midro, Alina T., Bamshad, Michael J.