Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1 by Van Den Elzen, M, Twigg, S, Goos, J, Hoogeboom, A, Van Den Ouweland, A, Wilkie, A, Mathijssen, I

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1. by van den Elzen, M, Twigg, SR, Goos, J, Hoogeboom, A, van den Ouweland, A, Wilkie, A, Mathijssen, I

Apparently synonymous substitutions in FGFR2affect splicing and result in mild Crouzon syndrome by Fenwick, A, Goos, J, Rankin, J, Lord, H, Lester, T, Hoogeboom, A, Van Den Ouweland, A, Wall, SA, Mathijssen, I, Wilkie, A

Identification of intragenic exon deletions and duplication of TCF12 by whole genome or targeted sequencing as a cause of TCF12-related craniosynostosis by Goos, J, Fenwick, A, Swagemakers, S, McGowan, S, Knight, S, Twigg, S, Hoogeboom, A, van Dooren, M, Magielsen, F, Wall, S, Mathijssen, I, Wilkie, A, van der Spek, P, van den Ouweland, A

A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis by Goos, J, Vogel, W, Mlcochova, H, Millard, C, Esfandiari, E, Selman, S, Calpena Corpas, E, Koelling, N, Carpenter, E, Swagemakers, S, van der Spek, P, Filtz, T, Schwabe, J, Iwaniec, U, Mathijssen, I, Leid, M, Twigg, S

Gain-of-function mutations in ZIC1 are associated with coronal craniosynostosis and learning disability by Twigg, S, Forecki, J, Goos, J, Richardson, I, Hoogeboom, A, van den Ouweland, A, Swagemakers, S, Lequin, M, Van Antwerp, D, McGowan, S, Westbury, I, Miller, K, Wall, S, van der Spek, P, Mathijssen, I, Pauws, E, Merzdorf, C, Wilkie, A

Identification of mutations in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia by Goos, J, Swagemakers, S, Twigg, S, van Dooren, M, Hoogeboom, A, Beetz, C, Günther, S, Magielsen, F, Ockeloen, C, Ramos-Arroyo, M, Pfundt, R, Yntema, H, van der Spek, P, Stanier, P, Wieczorek, D, Wilkie, A, van den Ouweland, A, Mathijssen, I, Hurst, J

Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis by 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. by 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

Diagnostic value of exome and whole genome sequencing in craniosynostosis by Miller, K, Twigg, S, McGowan, S, Phipps, J, Fenwick, A, Johnson, D, Wall, S, Noons, P, Rees, K, Tidey, E, Craft, J, Taylor, J, Taylor, J, Goos, J, Swagemakers, S, Mathijssen, I, van der Spek, P, Lord, H, Lester, T, Abid, N, Cilliers, D, Hurst, J, Morton, J, Sweeney, E, Weber, A, Wilson, L, Wilkie, A

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. by 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