Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia. Dahkki Vasudevan, P, Twigg, SR, Mulliken, J, Cook, J, Quarrell, O, Wilkie, A

Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients. Dahkki Jehee, F, Alonso, L, Cavalcanti, D, Kim, C, Wall, SA, Mulliken, J, Sun, M, Jabs, E, Boyadjiev, SA, Wilkie, A, Passos-Bueno, MR

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. Dahkki Twigg, SR, Matsumoto, K, Kidd, A, Goriely, A, Taylor, I, Fisher, R, Hoogeboom, A, Mathijssen, I, Lourenco, M, Morton, J, Sweeney, E, Wilson, L, Brunner, H, Mulliken, J, Wall, SA, Wilkie, A

Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis Dahkki Sharma, V, Fenwick, A, Brockop, MS, McGowan, S, Goos, J, Hoogeboom, A, Brady, A, Jeelani, O, Lynch, SA, Mulliken, J, Murray, D, Phipps, J, Sweeney, E, Tomkins, SE, Wilson, L, Bennett, S, Cornall, R, Broxholme, J, Kanapin, A, Donnelly, P, Johnson, D, Wall, SA, van der Spek, P, Mathijssen, I, Maxson, R

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Dahkki Sharma, V, Fenwick, A, Brockop, MS, McGowan, S, Goos, J, Hoogeboom, A, Brady, A, Jeelani, N, Lynch, SA, Mulliken, J, Murray, D, Phipps, J, Sweeney, E, Tomkins, SE, Wilson, L, Bennett, S, Cornall, R, Broxholme, J, Kanapin, A, Johnson, D, Wall, SA, van der Spek, P, Mathijssen, I, Maxson, R, Twigg, SR

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Dahkki Sharma, V, Fenwick, A, Brockop, MS, McGowan, S, Goos, J, Hoogeboom, A, Brady, A, Jeelani, N, Lynch, SA, Mulliken, J, Murray, D, Phipps, J, Sweeney, E, Tomkins, SE, Wilson, L, Bennett, S, Cornall, R, Broxholme, J, Kanapin, A, 500 Whole-Genome Sequences (WGS500) Consortium, Johnson, D, Wall, SA, van der Spek, P, Mathijssen, I, Maxson, R