Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. by Bendon, C, Fenwick, A, Hurst, J, Nürnberg, G, Nürnberg, P, Wall, SA, Wilkie, A, Johnson, D

Consumptive coagulopathy is associated with a disturbed host response in patients with sepsis by van Vught, LA, Uhel, F, Ding, C, Van't Veer, C, Scicluna, BP, Peters-Sengers, H, Klein Klouwenberg, PMC, Nürnberg, P, Cremer, OL, Schultz, MJ, van der Poll, T

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies. by Iseri, S, Osborne, R, Farrall, M, Wyatt, A, Mirza, G, Nürnberg, G, Kluck, C, Herbert, H, Martin, A, Hussain, MS, Collin, JR, Lathrop, M, Nürnberg, P, Ragoussis, J, Ragge, N

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. by Twigg, SR, Versnel, S, Nürnberg, G, Lees, M, Bhat, M, Hammond, P, Hennekam, R, Hoogeboom, A, Hurst, J, Johnson, D, Robinson, A, Scambler, P, Gerrelli, D, Nürnberg, P, Mathijssen, I, Wilkie, A

A genome-wide association study of Dupuytren's disease reveals 17 additional variants implicated in fibrosis by Ng, M, Thakkar, D, Southam, L, Werker, P, Ophoff, R, Becker, K, Nothnagel, M, Franke, A, Nurnberg, P, Espirito-Santo, A, Izadi, D, Hennies, H, Nanchahal, J, Zeggini, E, Furniss, D

Classification of patients with sepsis according to blood genomic endotype: a prospective cohort study by Scicluna, B, van Vught, L, Zwinderman, A, Wiewel, M, Davenport, E, Burnham, K, Nürnberg, P, Schultz, M, Horn, J, Cremer, O, Bonten, M, Hinds, C, Wong, H, Knight, J, van der Poll, T

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. by Metherell, L, Naville, D, Halaby, G, Begeot, M, Huebner, A, Nürnberg, G, Nürnberg, P, Green, J, Tomlinson, J, Krone, N, Lin, L, Racine, M, Berney, D, Achermann, J, Arlt, W, Clark, A

Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. by Geier, C, Perrot, A, Ozcelik, C, Binner, P, Counsell, D, Hoffmann, K, Pilz, B, Martiniak, Y, Gehmlich, K, van der Ven, P, Fürst, DO, Vornwald, A, von Hodenberg, E, Nürnberg, P, Scheffold, T, Dietz, R, Osterziel, K

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. by Jenkins, D, Seelow, D, Jehee, F, Perlyn, C, Alonso, L, Bueno, D, Donnai, D, Josifova, D, Josifiova, D, Mathijssen, I, Morton, J, Orstavik, K, Sweeney, E, Wall, SA, Marsh, J, Nurnberg, P, Passos-Bueno, MR, Wilkie, A

Wnt signaling and Dupuytren's disease. by Dolmans, G, Werker, P, Hennies, H, Furniss, D, Festen, E, Franke, L, Becker, K, van der Vlies, P, Wolffenbuttel, B, Tinschert, S, Toliat, MR, Nothnagel, M, Franke, A, Klopp, N, Wichmann, H, Nürnberg, P, Giele, H, Ophoff, R, Wijmenga, C

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. by Geier, C, Gehmlich, K, Ehler, E, Hassfeld, S, Perrot, A, Hayess, K, Cardim, N, Wenzel, K, Erdmann, B, Krackhardt, F, Posch, MG, Osterziel, K, Bublak, A, Nägele, H, Scheffold, T, Dietz, R, Chien, K, Spuler, S, Fürst, DO, Nürnberg, P, Ozcelik, C

Erratum: Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy (Human Molecular Genetics (2008) vol. 17 (18) (2753-2765) 10.1093/hmg/ddn160) by Geier, C, Gehmlich, K, Ehler, E, Hassfeld, S, Perrot, A, Hayess, K, Cardim, N, Wenzel, K, Erdmann, B, Krackhardt, F, Posch, MG, Osterziel, K, Bublak, A, Nägele, H, Scheffold, T, Dietz, R, Chien, K, Spuler, S, Fürst, DO, Nürnberg, P, Özcelik, C

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. by Hennies, H, Kornak, U, Zhang, H, Egerer, J, Zhang, X, Seifert, W, Kühnisch, J, Budde, B, Nätebus, M, Brancati, F, Wilcox, W, Müller, D, Kaplan, P, Rajab, A, Zampino, G, Fodale, V, Dallapiccola, B, Newman, W, Metcalfe, K, Clayton-Smith, J, Tassabehji, M, Steinmann, B, Barr, F, Nürnberg, P, Wieacker, P