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