Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance by Tooze, RS, Miller, KA, Swagemakers, SMA, Calpena, E, McGowan, SJ, Boute, O, Collet, C, Johnson, D, Laffargue, F, de Leeuw, N, Morton, JV, Noons, P, Ockeloen, CW, Phipps, JM, Tan, TY, Timberlake, AT, Vanlerberghe, C, Wall, SA, Weber, A, Wilson, LC, Zackai, EH, Mathijssen, IMJ, Twigg, SRF, Wilkie, AOM

Impaired presynaptic high-affinity choline transporter causes a congenital myasthenic syndrome with episodic apnea by Bauché, S, O'Regan, S, Azuma, Y, Laffargue, F, McMacken, G, Sternberg, D, Brochier, G, Buon, C, Bouzidi, N, Topf, A, Lacène, E, Remerand, G, Beaufrere, A-M, Pebrel-Richard, C, Thevenon, J, El Chehadeh-Djebbar, S, Faivre, L, Duffourd, Y, Ricci, F, Mongini, T, Fiorillo, C, Astrea, G, Burloiu, CM, Butoianu, N, Sandu, C, Servais, L, Bonne, G, Nelson, I, Desguerre, I, Nougues, M-C, Bœuf, B, Romero, N, Laporte, J, Boland, A, Lechner, D, Deleuze, J-F, Fontaine, B, Strochlic, L, Lochmuller, H, Eymard, B, Mayer, M, Nicole, S