A recurrent De Novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations

- Palmer, Elizabeth E., Kumar, Raman, Oufadem, Myriam, Lalani, Seema R., Lewis, Andrea M., Xia, Fan, Tam, Allison, Webster, Richard, Brammah, Susan, Filippini, Francesca, Pollard, John, Spies, Judy, Gordon, Christopher T., Minoche, Andre E., Cowley, Mark J., Risen, Sarah, Powell-Hamilton, Nina N., Tusi, Jessica E., Immken, LaDonna, Nagakura, Honey, Bole-Feysot, Christine, Nitschké, Patrick, Garrigue, Alexandrine, Shaw, Marie, de Saint Basile, Geneviève, Kivuva, Emma, Scott, Richard H., Rendon, Augusto, Munnich, Arnold, Newman, William, Kerr, Bronwyn, Besmond, Claude, Rosenfeld, Jill A., Amiel, Jeanne, Hubert, Laurence, Field, Michael, Gecz, Jozef, Carroll, Renee, Rio, Marlène, Murray, Lucinda, Leffler, Melanie, Dudding-Byth, Tracy

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

- Molinari, Florence, Foulquier, François, Matthijs, Gert, Gecz, Jozef, Munnich, Arnold, Colleaux, Laurence, Tarpey, Patrick S., Morelle, Willy, Boissel, Sarah, Teague, Jon, Edkins, Sarah, Futreal, P. Andrew, Stratton, Michael R., Turner, Gillian