Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders. by Robertson, S, Thompson, S, Morgan, T, Holder-Espinasse, M, Martinot-Duquenoy, V, Wilkie, A, Manouvrier-Hanu, S

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. by Walters, R, Jacquemont, S, Valsesia, A, de Smith, A, Martinet, D, Andersson, J, Falchi, M, Chen, F, Andrieux, J, Lobbens, S, Delobel, B, Stutzmann, F, El-Sayed Moustafa, J, Chèvre, J, Lecoeur, C, Vatin, V, Bouquillon, S, Buxton, J, Boute, O, Holder-Espinasse, M, Cuisset, J, Lemaitre, M, Ambresin, A, Brioschi, A, Gaillard, M

‘Something that helped the whole picture’: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service by McInnes‐Dean, H, Mellis, R, Daniel, M, Walton, H, Baple, EL, Bertoli, M, Fisher, J, Gajewska‐Knapik, K, Holder‐Espinasse, M, Lafarge, C, Leeson‐Beevers, K, McEwan, A, Pandya, P, Parker, M, Peet, S, Roberts, L, Sankaran, S, Smith, A, Tapon, D, Wu, WH, Wynn, SL, Chitty, LS, Hill, M, Peter, M

The phenotypic continuum of ATP1A3-related disorders by Vezyroglou, A, Akilapa, R, Barwick, K, Koene, S, Brownstein, CA, Holder-Espinasse, M, Fry, AE, Nemeth, AH, Tofaris, GK, Hay, E, Hughes, I, Mansour, S, Mordekar, SR, Splitt, M, Turnpenny, PD, Demetriou, D, Koopmann, TT, Ruivenkamp, CAL, Agrawal, PB, Carr, L, Clowes, V, Ghali, N, Holder, SE, Radley, J, Male, A, Sisodiya, SM, Kurian, MA, Cross, JH, Balasubramanian, M