Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. Tekijä Hempel, A, Pagnamenta, A, Blyth, M, Mansour, S, McConnell, V, Kou, I, Ikegawa, S, Tsurusaki, Y, Matsumoto, N, Lo-Castro, A, Plessis, G, Albrecht, B, Battaglia, A, Taylor, J, Howard, M, Keays, D, Sohal, A, Kühl, S, Kini, U, McNeill, A

A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groups. Tekijä Londono, D, Kou, I, Johnson, T, Sharma, S, Ogura, Y, Tsunoda, T, Takahashi, A, Matsumoto, M, Herring, J, Lam, T, Wang, X, Tam, E, Song, Y, Fan, Y, Chan, D, Cheah, K, Qiu, X, Jiang, H, Huang, D, TSRHC IS Clinical Group, International Consortium for Scoliosis Genetics, Su, P, Sham, P, Cheung, K, Luk, K