Schmidts, M; Arts, HH; Bongers, EM; Yap, Z; Oud, MM; Antony, D; Duijkers, L; ... Mitchison, HM; + view all <#> Schmidts, M; Arts, HH; Bongers, EM; Yap, Z; Oud, MM; Antony, D; Duijkers, L; Emes, RD; Stalker, J; Yntema, JB; Plagnol, V; Hoischen, A; Gilissen, C; Forsythe, E; Lausch, E; Veltman, JA; Roeleveld, N; Superti-Furga, A; Kutkowska-Kazmierczak, A; Kamsteeg, EJ; Elçioglu, N; van Maarle, MC; Graul-Neumann, LM; Devriendt, K; Smithson, SF; Wellesley, D; Verbeek, NE; Hennekam, RC; Kayserili, H; Scambler, PJ; Beales, PL; UK10K,; Knoers, NV; Roepman, R; Mitchison, HM; - view fewer <#> (2013) Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet , 50 (5) 309 - 323. 10.1136/jmedgenet-2012-101284 <https://doi.org/10.1136/jmedgenet-2012-101284>. Green open access