Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies

por Toppings, N. B., McMillan, J. M., Au, P. Y. B., Suchowersky, O., Donovan, L. E.
Publicado 2018

HostSeq: a Canadian whole genome sequencing and clinical data resource

por Yoo, S, Garg, E, Elliott, LT, Hung, RJ, Halevy, AR, Brooks, JD, Bull, SB, Gagnon, F, Greenwood, CMT, Lawless, JF, Paterson, AD, Sun, L, Zawati, MH, Lerner-Ellis, J, Abraham, RJS, Birol, I, Bourque, G, Garant, J-M, Gosselin, C, Li, J, Whitney, J, Thiruvahindrapuram, B, Herbrick, J-A, Lorenti, M, Reuter, MS, Adeoye, OO, Liu, S, Allen, U, Bernier, FP, Biggs, CM, Cheung, AM, Cowan, J, Herridge, M, Maslove, DM, Modi, BP, Mooser, V, Morris, SK, Ostrowski, M, Parekh, RS, Pfeffer, G, Suchowersky, O, Taher, J, Upton, J, Warren, RL, Yeung, RSM, Aziz, N, Turvey, SE, Knoppers, BM, Lathrop, M, Jones, SJM, Scherer, SW, Strug, LJ
Publicado 2023

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