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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
Parent-of-origin effect in multiple sclerosis: observations in half-siblings
Ebers, GC, Sadovnick, AD, Dyment, DA, Yee, IML, Willer, CJ, Risch, Neil
Published in The Lancet (British edition) (29.05.2004)
Published in The Lancet (British edition) (29.05.2004)
Get full text
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)
Get more information
Journal Article
Risk alleles for multiple sclerosis in multiplex families
D'Netto, M J, Ward, H, Morrison, K M, Ramagopalan, S V, Dyment, D A, DeLuca, G C, Handunnetthi, L, Sadovnick, A D, Ebers, G C
Published in Neurology (09.06.2009)
Published in Neurology (09.06.2009)
Get more information
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)
Get full text
Journal Article
Parent-of-origin effect in multiple sclerosis: observations from interracial matings
Ramagopalan, S V, Yee, I M, Dyment, D A, Orton, S-M, Marrie, R A, Sadovnick, A D, Ebers, G C
Published in Neurology (25.08.2009)
Published in Neurology (25.08.2009)
Get more information
Journal Article
Age of puberty and the risk of multiple sclerosis: a population based study
Ramagopalan, S. V., Valdar, W., Criscuoli, M., DeLuca, G. C., Dyment, D. A., Orton, S.-M., Yee, I. M., Ebers, G. C., Sadovnick, A. D.
Published in European journal of neurology (01.03.2009)
Published in European journal of neurology (01.03.2009)
Get full text
Journal Article
Multiple sclerosis in stepsiblings: recurrence risk and ascertainment
Dyment, D A, Yee, I M L, Ebers, G C, Sadovnick, A D
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2006)
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2006)
Get full text
Journal Article
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder
Chaudhry, A., Noor, A., Degagne, B., Baker, K., Bok, L. A., Brady, A. F., Chitayat, D., Chung, B. H., Cytrynbaum, C., Dyment, D., Filges, I., Helm, B., Hutchison, H. T., Jeng, L. J. B., Laumonnier, F., Marshall, C. R., Menzel, M., Parkash, S., Parker, M. J., Raymond, L. F., Rideout, A. L., Roberts, W., Rupps, R., Schanze, I., Schrander-Stumpel, C. T. R. M., Speevak, M. D., Stavropoulos, D. J., Stevens, S. J. C., Thomas, E. R. A., Toutain, A., Vergano, S., Weksberg, R., Scherer, S. W., Vincent, J. B., Carter, M. T.
Published in Clinical genetics (01.09.2015)
Published in Clinical genetics (01.09.2015)
Get full text
Journal Article
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)
Get full text
Journal Article
Sex ratio of multiple sclerosis and clinical phenotype
Ramagopalan, S. V., Byrnes, J. K., Orton, S.-M., Dyment, D. A., Guimond, C., Yee, I. M., Ebers, G. C., Sadovnick, A. D.
Published in European journal of neurology (01.04.2010)
Published in European journal of neurology (01.04.2010)
Get full text
Journal Article
Effect of immigration on multiple sclerosis sex ratio in Canada: the Canadian Collaborative Study
Orton, S-M, Ramagopalan, S V, Brocklebank, D, Herrera, B M, Dyment, D A, Yee, I M, Sadovnick, A D, Ebers, G C
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2010)
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2010)
Get full text
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)
Get full text
Journal Article
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)
Get full text
Journal Article