Review of recurrently mutated genes in craniosynostosis supports expansion of diagnostic gene panels by Tooze, RS, Calpena, E, Weber, A, Wilson, LC, Twigg, SRF, Wilkie, AOM

Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non‐syndromic sagittal and metopic craniosynostosis by Walton, IS, McCann, E, Weber, A, Morton, JEV, Noons, P, Wilson, LC, Ching, RC, Cilliers, D, Johnson, D, Phipps, JM, Shears, DJ, Thomas, GPL, Wall, SA, Twigg, SRF, Wilkie, AOM

Reassessing the association: evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis by Walton, IS, McCann, E, Weber, A, Morton, JEV, Noons, P, Wilson, LC, Ching, RC, Cilliers, D, Johnson, D, Phipps, JM, Shears, DJ, Thomas, GPL, Wall, SA, Twigg, SRF, Wilkie, AOM

Evaluating the performance of a clinical genome sequencing programme for diagnosis of rare genetic disease, seen through the lens of craniosynostosis by Tooze, RS, Hyder, Z, Calpena, E, Pei, Y, Twigg, SRF, Cilliers, D, Morton, JEV, McCann, E, Weber, A, Wilson, LC, Need, A, Bond, A, Tavares, ALT, Brittain, H, Thomas, E, Hill, SL, Deans, ZC, Boardman-Pretty, F, Caulfield, M, Scott, RH, Wilkie, AOM

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

A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis by Justice, CM, Cuellar, A, Bala, K, Sabourin, JA, Cunningham, ML, Crawford, K, Phipps, JM, Zhou, Y, Cilliers, D, Byren, JC, Johnson, D, Wall, SA, Morton, JEV, Noons, P, Sweeney, E, Weber, A, Rees, KEM, Wilson, LC, Simeonov, E, Kaneva, R, Yaneva, N, Georgiev, K, Bussarsky, A, Senders, C, Zwienenberg, M, Boggan, J, Roscioli, T, Tamburrini, G, Barba, M, Conway, K, Sheffield, VC, Brody, L, Mills, JL, Kay, D, Sicko, RJ, Langlois, PH, Tittle, RK, Botto, LD, Jenkins, MM, LaSalle, JM, Lattanzi, W, Wilkie, AOM, Wilson, AF, Romitti, PA, Boyadjiev, SA, National Birth Defects Prevention Study