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

Volltext

Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families von Hartley, T., Wagner, J.D., Warman‐Chardon, J., Tétreault, M., Brady, L., Baker, S., Tarnopolsky, M., Bourque, P.R., Parboosingh, J.S., Smith, C., McInnes, B., Innes, A.M., Bernier, F., Curry, C.J., Yoon, G., Horvath, G.A., Bareke, E., Gillespie, M., Majewski, J., Bulman, D.E., Dyment, D.A., Boycott, K.M.

Volltext

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study von Dyment, D.A., Tétreault, M., Beaulieu, C.L., Hartley, T., Ferreira, P., Chardon, J.W., Marcadier, J., Sawyer, S.L., Mosca, S.J., Innes, A.M., Parboosingh, J.S., Bulman, D.E., Schwartzentruber, J., Majewski, J., Tarnopolsky, M., Boycott, K.M.

Volltext

Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy von Dyment, D.A., Sell, E., Vanstone, M.R., Smith, A.C., Garandeau, D., Garcia, V., Carpentier, S., Le Trionnaire, E., Sabourdy, F., Beaulieu, C.L., Schwartzentruber, J.A., McMillan, H.J., Majewski, J., Bulman, D.E., Levade, T., Boycott, K.M.

Volltext

Mother‐to‐daughter transmission of Kenny–Caffey syndrome associated with the recurrent, dominant FAM111A mutation p. Arg569His von Nikkel, S.M., Ahmed, A., Smith, A., Marcadier, J., Bulman, D.E., Boycott, K.M.

Volltext

Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His von Nikkel, S.M., Ahmed, A., Smith, A., Marcadier, J., Bulman, D.E., Boycott, K.M.

Volltext

A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys von Ito, Y.A., Smith, A.C., Kernohan, K.D., Pena, I.A., Ahmed, A., McDonell, L.M., Beaulieu, C., Bulman, D.E., Smidt, A., Sawyer, S.L., Dyment, D.A., Boycott, K.M., Clericuzio, C.L.

Volltext

LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues von Chardon, Jodi Warman, Smith, A.C., Woulfe, J., Pena, E., Rakhra, K., Dennie, C., Beaulieu, C., Huang, Lijia, Schwartzentruber, J., Hawkins, C., Harms, M.B., Dojeiji, S., Zhang, M., Majewski, J., Bulman, D.E., Boycott, K.M., Dyment, D.A.

Volltext

The development of a genetic newborn screening assay for permanent hearing loss using blood spots — A collaboration between Newborn Screening Ontario (NSO) and the Infant Hearing P... von Yeh, E., Durie, D., McClelland, S., Thériault, M., Liyanage, H., Higgins, L., Pluscauskas, M., Weber, S., Hyde, M., Bulman, D.E., Chakraborty, P.

Volltext

A novel sodium channel mutation in a family with hypokalemic periodic paralysis von BULMAN, D. E, SCOGGAN, K. A, VAN OENE, M. D, NICOLLE, M. W, HAHN, A. F, TOLLAR, L. L, EBERS, G. C

Volltext

A novel locus for brachydactyly type A1 on chromosome 5p 13.3-p 13.2 von Armour, C.M, McCready, M.E, Baig, A, Hunter, A.G.W, Bulman, D.E

Volltext

Parkinson's genetics—creating exciting new insights von Grimes, D.A., Bulman, D.E.

Volltext

Identification of a mutation in the Indian Hedgehog von Kirkpatrick, T.J, Au, K-S, Mastrobattista, J.M, McCready, M.E, Bulman, D.E, Northrup, H

Volltext

Childhood-onset primary open angle glaucoma in a Canadian kindred: clinical and molecular genetic features von Damji, K.F., Song, X., Gupta, S.K., Gao, J., Rock, W., Bulman, D.E.

Volltext

Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy von Winnard, A.V., Klein, C.J., Coovert, D.D., Prior, T., Papp, A., Snyder, P., Bulman, D.E., Ray, P.N., McAndrew, P., King, W., Moxley, R.T., Mendell, J.R.

Volltext

Genetic improvement of spring barley cultivars grown in eastern Canada from 1910 to 1988 von Bulman, P. (McGill Univ., Ste Anne de Bellevue, Que. (Canada). Dept. of Plant Science), Mather, D.E, Smith, D.L

Volltext

effects of dietary n-3/n-6 ratio on brain development in the mouse: a dose response study with long-chain n-3 fatty acids von Wainwright, P.E, Huang, Y.S, Bulman-Fleming, B, Dalby, D, Mills, D.E, Redden, P, McCutcheon, D

Volltext

Effect of maternal dietary fats with variable n-3/n-6 ratios on tissue fatty acid composition in suckling mice von Huang, Y.S. (Efamol Research Institute, Kentville, Nova Scotia, Canada), Wainwright, P.E, Redden, P.R, Mills, D.E, Bulman-Fleming, B, Horrobin, D.F

Volltext