Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

por Sawyer, S.L., Hartley, T., Dyment, D.A., Beaulieu, C.L., Schwartzentruber, J., Smith, A., Bedford, H.M., Bernard, G., Bernier, F.P., Brais, B., Bulman, D.E., Warman Chardon, J., Chitayat, D., Deladoëy, J., Fernandez, B.A., Frosk, P., Geraghty, M.T., Gerull, B., Gibson, W., Gow, R.M., Graham, G.E., Green, J.S., Heon, E., Horvath, G., Innes, A.M., Jabado, N., Kim, R.H., Koenekoop, R.K., Khan, A., Lehmann, O.J., Mendoza‐Londono, R., Michaud, J.L., Nikkel, S.M., Penney, L.S., Polychronakos, C., Richer, J., Rouleau, G.A., Samuels, M.E., Siu, V.M., Suchowersky, O., Tarnopolsky, M.A., Yoon, G., Zahir, F.R., Majewski, J., Boycott, K.M.
Publicado 2015

The Canadian Neuromuscular Disease Registry 2010–2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry

por Hodgkinson, V., Lounsberry, J., M’Dahoma, S., Russell, A., Jewett, G., Benstead, T., Brais, B., Campbell, C., Johnston, W., Lochmüller, H., McCormick, A., Nguyen, C. T., O’Ferrall, E., Oskoui, M., Abrahao, A., Briemberg, H., Bourque, P.R., Botez, S., Cashman, N., Chapman, K., Chrestian, N., Crone, M., Dobrowolski, P., Dojeiji, S., Dowling, J. J., Dupré, N., Genge, A., Gonorazky, H., Grant, I., Hasal, S., Izenberg, A., Kalra, S., Katzberg, H., Krieger, C., Leung, E., Linassi, G., Mackenzie, A., Mah, J. K., Marrero, A., Massie, R., Matte, G., McAdam, L., McMillan, H., Melanson, M., Mezei, M. M., O’Connell, C., Pfeffer, G., Phan, C., Plamondon, S., Poulin, C., Rodrigue, X., Schellenberg, K., Selby, K., Sheriko, J., Shoesmith, C., Smith, R.G., Taillon, M., Taylor, S., Venance, S., Warman-Chardon, J., Worley, S., Zinman, L., Korngut, L.
Publicado 2021