FGFs, their receptors, and human limb malformations: clinical and molecular correlations. Por Wilkie, A, Patey, S, Kan, S, van den Ouweland, A, Hamel, B

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis. Por Rannan-Eliya, S, Taylor, I, De Heer, I, Van Den Ouweland, A, Wall, SA, Wilkie, A

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1 Por 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. Por 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 Por 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 Por 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

Gain-of-function mutations in ZIC1 are associated with coronal craniosynostosis and learning disability Por 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 Por 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

Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21. Por Hamdi, Y, Soucy, P, Adoue, V, Michailidou, K, Canisius, S, Lemaçon, A, Droit, A, Andrulis, I, Anton-Culver, H, Arndt, V, Baynes, C, Blomqvist, C, Bogdanova, N, Bojesen, S, Bolla, M, Bonanni, B, Borresen-Dale, A, Brand, J, Brauch, H, Brenner, H, Broeks, A, Burwinkel, B, Chang-Claude, J, NBCS Collaborators, Couch, F, Cox, A, Cross, S, Czene, K, Darabi, H, Dennis, J, Devilee, P, Dörk, T, Dos-Santos-Silva, I, Eriksson, M, Fasching, P, Figueroa, J, Flyger, H, García-Closas, M, Giles, G, Goldberg, M, González-Neira, A, Grenaker-Alnæs, G, Guénel, P, Haeberle, L, Haiman, C, Hamann, U, Hallberg, E, Hooning, M, Hopper, J, Jakubowska, A, Jones, M, Kabisch, M, Kataja, V, Lambrechts, D, Le Marchand, L, Lindblom, A, Lubinski, J, Mannermaa, A, Maranian, M, Margolin, S, Marme, F, Milne, R, Neuhausen, S, Nevanlinna, H, Neven, P, Olswold, C, Peto, J, Plaseska-Karanfilska, D, Pylkäs, K, Radice, P, Rudolph, A, Sawyer, E, Schmidt, M, Shu, X, Southey, M, Swerdlow, A, Tollenaar, R, Tomlinson, I, Torres, D, Truong, T, Vachon, C, Van Den Ouweland, A, Wang, Q, Winqvist, R, kConFab/Aocs Investigators, Zheng, W, Benitez, J, Chenevix-Trench, G, Dunning, A, Pharoah, P, Kristensen, V, Hall, P, Easton, D, Pastinen, T, Nord, S, Simard, J

An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression Por Wyszynski, A, Hong, C, Lam, K, Michailidou, K, Lytle, C, Yao, S, Zhang, Y, Bolla, M, Wang, Q, Dennis, J, Hopper, J, Southey, M, Schmidt, M, Broeks, A, Muir, K, Lophatananon, A, Fasching, P, Beckmann, M, Peto, J, Dos-Santos-Silva, I, Sawyer, E, Tomlinson, I, Burwinkel, B, Marme, F, Guénel, P, Truong, T, Bojesen, S, Nordestgaard, B, González-Neira, A, Benitez, J, Neuhausen, S, Brenner, H, Dieffenbach, A, Meindl, A, Schmutzler, R, Brauch, H, Nevanlinna, H, Khan, S, Matsuo, K, Ito, H, Dörk, T, Bogdanova, N, Lindblom, A, Margolin, S, Mannermaa, A, Kosma, V, Wu, A, Van Den Berg, D, Lambrechts, D, Wildiers, H, Chang-Claude, J, Rudolph, A, Radice, P, Peterlongo, P, Couch, F, Olson, J, Giles, G, Milne, R, Haiman, C, Henderson, B, Dumont, M, Teo, S, Wong, T, Kristensen, V, Zheng, W, Long, J, Winqvist, R, Pylkäs, K, Andrulis, I, Knight, J, Devilee, P, Seynaeve, C, García-Closas, M, Figueroa, J, Klevebring, D, Czene, K, Hooning, M, van den Ouweland, A, Darabi, H, Shu, X, Gao, Y, Cox, A, Blot, W, Signorello, L, Shah, M, Kang, D, Choi, J, Hartman, M, Miao, H, Hamann, U, Jakubowska, A, Lubinski, J, Sangrajrang, S, McKay, J, Toland, A, Yannoukakos, D, Shen, C, Wu, P, Swerdlow, A, Orr, N, Simard, J, Pharoah, P, Dunning, A, Chenevix-Trench, G, Hall, P, Bandera, E, Amos, C, Ambrosone, C, Easton, D, Cole, M

Genetic predisposition to in situ and invasive lobular carcinoma of the breast Por Sawyer, E, Roylance, R, Petridis, C, Brook, M, Nowinski, S, Papouli, E, Fletcher, O, Pinder, S, Hanby, A, Kohut, K, Gorman, P, Caneppele, M, Peto, J, Dos Santos Silva, I, Johnson, N, Swann, R, Dwek, M, Perkins, K, Gillett, C, Houlston, R, Ross, G, De Ieso, P, Southey, M, Hopper, J, Provenzano, E, Apicella, C, Wesseling, J, Cornelissen, S, Keeman, R, Fasching, P, Jud, S, Ekici, AB, Beckmann, M, Kerin, M, Marme, F, Schneeweiss, A, Sohn, C, Burwinkel, B, Guénel, P, Truong, T, Laurent-Puig, P, Kerbrat, P, Bojesen, SE, Nordestgaard, BG, Nielsen, S, Flyger, H, Milne, R, Perez, J, Menéndez, P, Benitez, J, Brenner, H, Dieffenbach, A, Arndt, V, Stegmaier, C, Meindl, A, Lichtner, P, Schmutzler, R, Lochmann, M, Brauch, H, Fischer, H, Ko, Y, Nevanlinna, H, Muranen, T, Aittomäki, K, Blomqvist, C, Bogdanova, N, Dörk, T, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, V, Hartikainen, J, Chenevix-Trench, G, Investigators, K, Lambrechts, D, Weltens, C, Van Limbergen, E, Hatse, S, Chang-Claude, J, Rudolph, A, Seibold, P, Flesch-Janys, D, Radice, P, Peterlongo, P, Bonanni, B, Volorio, S, Giles, G, Severi, G, Baglietto, L, McLean, C, Haiman, C, Henderson, B, Schumacher, F, Le Marchand, L, Simard, J, Goldberg, MS, Labrèche, F, Dumont, M, Kristensen, V, Winqvist, R, Pylkäs, K, Jukkola-Vuorinen, A, Kauppila, S, Andrulis, I, Knight, J, Glendon, G, Mulligan, A, Devillee, P, Tollenaar, R, Seynaeve, C, Kriege, M, Figueroa, J, Chanock, S, Sherman, M, Hooning, M, Hollestelle, A, Van Den Ouweland, A, Deurzen, V, Li, J, Czene, K, Humphreys, K, Cox, A, Cross, S, Reed, M, Shah, M, Jakubowska, A, Lubinski, J, Jaworska-Bieniek, K, Durda, K, Swerdlow, A, Ashworth, A, Orr, N, Schoemaker, M, Couch, F, Hallberg, E, González-Neira, A, Pita, G, Alonso, MR, Tessier, D, Vincent, D, Bacot, F, Bolla, M, Wang, Q, Dennis, J, Michailidou, K, Dunning, A, Hall, P, Easton, D, Pharoah, P, Schmidt, M, Tomlinson, I, Garcia-Closas, M