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

Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA

- van Kogelenberg, Margriet, Clark, Alice R., Tolmie, John, Stewart, Fiona, Kivuva, Emma, Pilz, Daniela T., Gabbett, Michael, Sutherland-Smith, Andrew J., Robertson, Stephen P., Jenkins, Zandra, Morgan, Tim, Anandan, Ananda, Sawyer, Gregory M., Edwards, Matthew, Dudding, Tracy, Homfray, Tessa, Castle, Bruce