A Duty To Warn Relatives in Clinical Genetics: Arguably ‘Fair just and reasonable’ in English Law? by Mitchell, C, Ploem, M, Hennekam, R, Kaye, J

3D morphometry aids facial analysis of individuals with a childhood cancer by Hammond, P, Hopman, S, Merks, J, Suttie, M, Hennekam, R

Effects of redox variability and early diagenesis on marine sedimentary Hg records by Frieling, J, Mather, T, März, C, Jenkyns, H, Hennekam, R, Reichart, G-J, Slomp, CP, van Helmond, NAGM

Exploring the potential duty of care in clinical genomics under UK law. by Mitchell, C, Ploem, C, Chico, V, Ormondroyd, E, Hall, A, Wallace, S, Fay, M, Goodwin, D, Bell, J, Phillips, S, Taylor, J, Hennekam, R, Kaye, J

Phenotype and natural history in Marshall-Smith syndrome. by Shaw, A, van Balkom, I, Bauer, M, Cole, T, Delrue, M, Van Haeringen, A, Holmberg, E, Knight, S, Mortier, G, Nampoothiri, S, Pušeljić, S, Zenker, M, Cormier-Daire, V, Hennekam, R

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

Characterization of a recurrent 15q24 microdeletion syndrome. by Sharp, A, Selzer, R, Veltman, J, Gimelli, S, Gimelli, G, Striano, P, Coppola, A, Regan, R, Price, S, Knoers, N, Eis, P, Brunner, H, Hennekam, R, Knight, S, de Vries, B, Zuffardi, O, Eichler, E

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. by Hannes, F, Sharp, A, Mefford, H, de Ravel, T, Ruivenkamp, C, Breuning, M, Fryns, J, Devriendt, K, Van Buggenhout, G, Vogels, A, Stewart, H, Hennekam, R, Cooper, G, Regan, R, Knight, S, Eichler, E, Vermeesch, JR

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant by Hannes, F, Sharp, A, Mefford, H, de Ravel, T, Ruivenkamp, C, Breuning, M, Fryns, J, Devriendt, K, Van Buggenhout, G, Vogels, A, Stewart, H, Hennekam, R, Cooper, G, Regan, R, Knight, S, Eichler, E, Vermeesch, JR

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. by Sharp, A, Hansen, S, Selzer, R, Cheng, Z, Regan, R, Hurst, J, Stewart, H, Price, S, Blair, E, Hennekam, R, Fitzpatrick, C, Segraves, R, Richmond, T, Guiver, C, Albertson, D, Pinkel, D, Eis, P, Schwartz, S, Knight, S, Eichler, E

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism by Ansari, M, Poke, G, Ferry, Q, Williamson, K, Aldridge, R, Meynert, A, Bengani, H, Chan, C, Kayserili, H, Avci, Ş, Hennekam, R, Lampe, A, Redeker, E, Homfray, T, Ross, A, Smeland, M, Mansour, S, Parker, M, Cook, J, Splitt, M, Fisher, R, Fryer, A, Magee, A, Wilkie, A, Barnicoat, A

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. by Ansari, M, Poke, G, Ferry, Q, Williamson, K, Aldridge, R, Meynert, A, Bengani, H, Chan, C, Kayserili, H, Avci, S, Hennekam, R, Lampe, A, Redeker, E, Homfray, T, Ross, A, Falkenberg Smeland, M, Mansour, S, Parker, M, Cook, J, Splitt, M, Fisher, R, Fryer, A, Magee, A, Wilkie, A, Barnicoat, A

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. by Mefford, H, Sharp, A, Baker, C, Itsara, A, Jiang, Z, Buysse, K, Huang, S, Maloney, V, Crolla, J, Baralle, D, Collins, A, Mercer, C, Norga, K, de Ravel, T, Devriendt, K, Bongers, E, de Leeuw, N, Reardon, W, Gimelli, S, Bena, F, Hennekam, R, Male, A, Gaunt, L, Clayton-Smith, J, Simonic, I

Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia. by Wade, E, Daniel, P, Jenkins, Z, McInerney-Leo, A, Morgan, T, Addor, M, Ades, L, Bertola, D, Bohring, A, Carter, E, Cho, T, Duba, H, Fletcher, E, Kim, C, Krakow, D, Morava, E, Neuhann, T, Superti-Furga, A, Veenstra-Knol, I, Wieczorek, D, Wilson, L, Hennekam, R, Sutherland-Smith, A, Strom, T, Wilkie, A, Brown, M, Duncan, E, Markie, D, Robertson, S

Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia by Wade, E, Daniel, P, Jenkins, Z, McInerney-Leo, A, Leo, P, Morgan, T, Addor, M, Adès, L, Bertola, D, Bohring, A, Carter, E, Cho, T, Duba, H, Fletcher, E, Kim, C, Krakow, D, Morava, E, Neuhann, T, Superti-Furga, A, Veenstra-Knol, I, Wieczorek, D, Wilson, L, Hennekam, R, Sutherland-Smith, A, Strom, T, Wilkie, A, Brown, M, Duncan, E, Markie, D, Robertson, S

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution by Mirzaa, G, Timms, A, Conti, V, Boyle, E, Girisha, K, Martin, B, Kircher, M, Olds, C, Juusola, J, Collins, S, Park, K, Carter, M, Glass, I, Krägeloh-Mann, I, Chitayat, D, Parikh, A, Bradshaw, R, Torti, E, Braddock, S, Burke, L, Ghedia, S, Stephan, M, Stewart, F, Prasad, C, Napier, M, Saitta, S, Straussberg, R, Gabbett, M, O'Connor, B, Keegan, C, Yin, L, Lai, A, Martin, N, McKinnon, M, Addor, M, Boccuto, L, Schwartz, C, Lanoel, A, Conway, R, Devriendt, K, Tatton-Brown, K, Pierpont, M, Painter, M, Worgan, L, Reggin, J, Hennekam, R, Tsuchiya, K, Pritchard, C, Aracena, M, Gripp, K, Cordisco, M, Esch, H, Garavelli, L, Curry, C, Goriely, A, Kayserilli, H, Shendure, J, Graham, J, Guerrini, R, Dobyns, W