Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing
Balci, T.B., Hartley, T., Xi, Y., Dyment, D.A., Beaulieu, C.L., Bernier, F.P., Dupuis, L., Horvath, G.A., Mendoza‐Londono, R., Prasad, C., Richer, J., Yang, X.‐R., Armour, C.M., Bareke, E., Fernandez, B.A., McMillan, H.J., Lamont, R.E., Majewski, J., Parboosingh, J.S., Prasad, A.N., Rupar, C.A., Schwartzentruber, J., Smith, A.C., Tétreault, M., Innes, A.M., Boycott, K.M.
Published in Clinical genetics (01.09.2017)
Published in Clinical genetics (01.09.2017)
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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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Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome
Au, P.Y.B, Huang, L, Broley, S, Gallagher, L, Creede, E, Lahey, D, Ordorica, S, Mina, K, Boycott, K.M, Baynam, G, Dyment, D.A
Published in European journal of medical genetics (01.07.2017)
Published in European journal of medical genetics (01.07.2017)
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Journal Article
No effect of APOE and PVRL2 on the clinical outcome of multiple sclerosis
Ramagopalan, S.V, DeLuca, G.C, Morrison, K.M, Herrera, B.M, Dyment, D.A, Orton, S, Bihoreau, M.T, Degenhardt, A, Pugliatti, M, Sadovnick, A.D, Sotgiu, S, Ebers, G.C
Published in Journal of neuroimmunology (01.05.2007)
Published in Journal of neuroimmunology (01.05.2007)
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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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Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly
Kernohan, K.D., McBride, A., Xi, Y., Martin, N., Schwartzentruber, J., Dyment, D.A., Majewski, J., Blaser, S., Boycott, K.M., Chitayat, D.
Published in Clinical genetics (01.05.2017)
Published in Clinical genetics (01.05.2017)
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Journal Article
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management
Avila, M., Dyment, D.A., Sagen, J.V., St-Onge, J., Moog, U., Chung, B.H.Y., Mo, S., Mansour, S., Albanese, A., Garcia, S., Martin, D.O., Lopez, A.A., Claudi, T., König, R., White, S.M., Sawyer, S.L., Bernstein, J.A., Slattery, L., Jobling, R.K., Yoon, G., Curry, C.J., Merrer, M.L., Luyer, B.L., Héron, D., Mathieu-Dramard, M., Bitoun, P., Odent, S., Amiel, J., Kuentz, P., Thevenon, J., Laville, M., Reznik, Y., Fagour, C., Nunes, M.-L., Delesalle, D., Manouvrier, S., Lascols, O., Huet, F., Binquet, C., Faivre, L., Rivière, J.-B., Vigouroux, C., Njølstad, P.R., Innes, A.M., Thauvin-Robinet, C.
Published in Clinical genetics (01.04.2016)
Published in Clinical genetics (01.04.2016)
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A splice site and copy number variant responsible for TTC25-related primary ciliary dyskinesia
Backman, K., Mears, W.E., Waheeb, A., Beaulieu Bergeron, M., McClintock, J., de Nanassy, J., Reisman, J., Osmond, M., Hartley, T., Mears, A.J., Kernohan, K.D., Dyment, D.A.
Published in European journal of medical genetics (01.05.2021)
Published in European journal of medical genetics (01.05.2021)
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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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Journal Article
MHC transmission: insights into gender bias in MS susceptibility
Chao, M J, Ramagopalan, S V, Herrera, B M, Orton, S M, Handunnetthi, L, Lincoln, M R, Dyment, D A, Sadovnick, A D, Ebers, G C
Published in Neurology (18.01.2011)
Published in Neurology (18.01.2011)
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extremes of outcome strategy provides evidence that multiple sclerosis severity is determined by alleles at the HLA-DRB1 locus
DeLuca, G.C, Ramagopalan, S.V, Herrera, B.M, Dyment, D.A, Lincoln, M.R, Montpetit, A, Pugliatti, M, Barnardo, M.C.N, Risch, N.J, Sadovnick, A.D, Chao, M, Sotgiu, S, Hudson, T.J, Ebers, G.C
Published in Proceedings of the National Academy of Sciences - PNAS (26.12.2007)
Published in Proceedings of the National Academy of Sciences - PNAS (26.12.2007)
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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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Journal Article
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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Journal Article
Evidence for genetic basis of multiple sclerosis
Sadovnick, A.D, Dyment, D.A, Ebers, G.C, Risch, N.J, the Canadian Collaborative Study Group
Published in The Lancet (British edition) (22.06.1996)
Published in The Lancet (British edition) (22.06.1996)
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Journal Article
Migraine with aura is not linked to the FHM gene CACNA1A or the chromosomal region, 19p13
Noble-Topham, S E, Dyment, D A, Cader, M Z, Ganapathy, R, Brown, J D, Rice, G P A, Ebers, G C
Published in Neurology (08.10.2002)
Published in Neurology (08.10.2002)
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