Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
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.
Published in Clinical genetics (01.03.2016)
Published in Clinical genetics (01.03.2016)
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Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families
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.
Published in Clinical genetics (01.02.2018)
Published in Clinical genetics (01.02.2018)
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Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study
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.
Published in Clinical genetics (01.07.2015)
Published in Clinical genetics (01.07.2015)
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Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy
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.
Published in Clinical genetics (01.12.2014)
Published in Clinical genetics (01.12.2014)
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A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys
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.
Published in Clinical genetics (01.10.2018)
Published in Clinical genetics (01.10.2018)
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LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues
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.
Published in Clinical genetics (01.12.2015)
Published in Clinical genetics (01.12.2015)
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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 Program (IHP)
Yeh, E., Durie, D., McClelland, S., Thériault, M., Liyanage, H., Higgins, L., Pluscauskas, M., Weber, S., Hyde, M., Bulman, D.E., Chakraborty, P.
Published in Clinical biochemistry (01.10.2014)
Published in Clinical biochemistry (01.10.2014)
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A novel sodium channel mutation in a family with hypokalemic periodic paralysis
Bulman, D E, Scoggan, K A, van Oene, M D, Nicolle, M W, Hahn, A F, Tollar, L L, Ebers, G C
Published in Neurology (10.12.1999)
Published in Neurology (10.12.1999)
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Identification of a mutation in the Indian Hedgehog
Kirkpatrick, T.J, Au, K-S, Mastrobattista, J.M, McCready, M.E, Bulman, D.E, Northrup, H
Published in Journal of medical genetics (01.01.2003)
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Published in Journal of medical genetics (01.01.2003)
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Neurofilament M gene in a French-Canadian population with Parkinson's disease
Han, F, Bulman, D E, Panisset, M, Grimes, D A
Published in Canadian journal of neurological sciences (01.02.2005)
Published in Canadian journal of neurological sciences (01.02.2005)
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