Oligo-astrocytoma in LZTR1-related Noonan syndrome by Jacquinet, A, Bonnard, A, Capri, Y, Martin, D, Sadzot, B, Bianchi, E, Servais, L, Sacré, J-P, Cavé, H, Verloes, A

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. by Kan, S, Elanko, N, Johnson, D, Cornejo-Roldan, L, Cook, J, Reich, E, Tomkins, S, Verloes, A, Twigg, SR, Rannan-Eliya, S, McDonald-McGinn, D, Zackai, E, Wall, SA, Muenke, M, Wilkie, A

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. by Williamson, K, Rainger, J, Floyd, J, Ansari, M, Meynert, A, Aldridge, K, Rainger, J, Anderson, C, Moore, A, Hurles, M, Clarke, A, van Heyningen, V, Verloes, A, Taylor, MS, Wilkie, A, Fitzpatrick, DR

Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities by Breuss, M, Heng, J, Poirier, K, Tian, G, Jaglin, X, Qu, Z, Braun, A, Gstrein, T, Ngo, L, Haas, M, Bahi-Buisson, N, Moutard, M, Passemard, S, Verloes, A, Gressens, P, Xie, Y, Robson, K, Rani, D, Thangaraj, K, Clausen, T, Chelly, J, Cowan, N, Keays, D

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis by Twigg, S, Vorgia, E, Mcgowan, S, Peraki, I, Fenwick, A, Sharma, V, Allegra, M, Zaragkoulias, A, Akha, E, Knight, S, Lord, H, Lester, T, Izatt, L, Lampe, A, Mohammed, SN, Stewart, F, Verloes, A, Wilson, L, Healy, C, Sharpe, P, Hammond, P, Hughes, J, Taylor, S, Johnson, D, Wall, SA

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. by Twigg, S, Vorgia, E, McGowan, S, Peraki, I, Fenwick, A, Sharma, V, Allegra, M, Zaragkoulias, A, Sadighi Akha, E, Knight, S, Lord, H, Lester, T, Izatt, L, Lampe, A, Mohammed, SN, Stewart, F, Verloes, A, Wilson, L, Healy, C, Sharpe, P, Hammond, P, Hughes, J, Taylor, S, Johnson, D, Wall, SA

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients by Moortgat, S, Berland, S, Maystadt, I, Baker, I, Wilkie, A, Benoit, V, Caro-Llopis, A, Cooper, N, Debray, F, Faivre, L, Gardeitchik, T, Haukanes, B, Houge, G, Kivuva, E, Martinez, F, Mehta, S, Nassogne, M, Powell-Hamilton, N, Pfundt, R, Rosello, M, Prescott, T, Vasudevan, P, van Loon, B, Verellen-Dumoulin, C, Verloes, A, von der Lippe, C, Wakeling, E, Wilson, L, Yuen, A, Low, K, Newbury-Ecob, R