Diagnostic criteria for respiratory chain disorders in adults and children von BERNIER, F. P, BONEH, A, DENNETT, X, CHOW, C. W, CLEARY, M. A, THORBURN, D. R

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Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition von Davey, K M, Parboosingh, J S, McLeod, D R, Chan, A, Casey, R, Ferreira, P, Snyder, F F, Bridge, P J, Bernier, F P

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Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing von 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.

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Mutations in the novel protocadherin PCDH15 cause usher syndrome type 1F von ALAGRAMAM, Kumar N, HUIJUN YUAN, SCHWARTZ, Stuart, LEE, Charles, MORTON, Cynthia C, MULLINS, Robert F, RAMESH, Arabandi, VAN CAMP, Guy, HAGEMEN, Gregory S, WOYCHIK, Richard P, SMITH, Richard J. H, KUEHN, Markus H, MURCIA, Crystal L, WAYNE, Sigrid, SRIKUMARI SRISAILPATHY, C. R, LOWRY, R. Brian, KNAUS, Russell, VAN LAER, Lut, BERNIER, F. P

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Expansion of the GLE1‐associated arthrogryposis multiplex congenita clinical spectrum von Smith, C., Parboosingh, J.S., Boycott, K.M., Bönnemann, C.G., Mah, J.K., Lamont, R.E., Micheil Innes, A., Bernier, F.P.

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Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1‐related ciliopathy spectrum von Gillesse, E., Wade, A., Parboosingh, J. S., Au, P. Y. B., Bernier, F. P., Lamont, R. E., Innes, A. M.

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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.

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MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement von Donkervoort, S., Sabouny, R., Yun, P., Gauquelin, L., Chao, K. R., Hu, Y., Al Khatib, I., Töpf, A., Mohassel, P., Cummings, B. B., Kaur, R., Saade, D., Moore, S. A., Waddell, L. B., Farrar, M. A., Goodrich, J. K., Uapinyoying, P., Chan, S.H. S., Javed, A., Leach, M. E., Karachunski, P., Dalton, J., Medne, L., Harper, A., Thompson, C., Thiffault, I., Specht, S., Lamont, R. E., Saunders, C., Racher, H., Bernier, F. P., Mowat, D., Witting, N., Vissing, J., Hanson, R., Coffman, K. A., Hainlen, M., Parboosingh, J. S., Carnevale, A., Yoon, G., Schnur, R. E., Boycott, K. M., Mah, J. K., Straub, V., Foley, A. Reghan, Innes, A. M., Bönnemann, C. G., Shutt, T. E.

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Correlates of age at diagnosis of autism spectrum disorders in six Canadian regions von Coo, H, Ouellette-Kuntz, H, Lam, M, Yu, C T, Dewey, D, Bernier, F P, Chudley, A E, Hennessey, P E, Breitenbach, M M, Noonan, A L, Lewis, M E, Holden, J J

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Bowen–Conradi syndrome: A clinical and genetic study von Lowry, R.B., Innes, A.M., Bernier, F.P., McLeod, D.R., Greenberg, C.R., Chudley, A.E., Chodirker, B., Marles, S.L., Crumley, M.J., Loredo‐Osti, J.C., Morgan, K., Fujiwara, T.M.

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Association between congenital foot anomalies and gestational age at amniocentesis von Yoon, G., Chernos, J., Sibbald, B., Lowry, R.B., Connors, G., Simrose, R., Bernier, F.P.

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Developmental Origins of Infant Emotion Regulation: Mediation by Temperamental Negativity and Moderation by Maternal Sensitivity von Thomas, Jenna C, Letourneau, Nicole, Campbell, Tavis S, Tomfohr-Madsen, Lianne, Giesbrecht, Gerald F

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Maternal pre-pregnancy BMI influences the associations between bisphenol and phthalate exposures and maternal weight changes and fat accumulation von Irvine, Nathalie, Bell, Rhonda C., Subhan, Fatheema B., Field, Catherine J., Liu, Jiaying, MacDonald, Amy M., Kinniburgh, David W., Martin, Jonathan W., Dewey, Deborah, England-Mason, Gillian, Kaplan, B.J., Field, C.J., Bell, R.C., Bernier, F.P., Cantell, M., Casey, L.M., Eliasziw, M., Farmer, A., Gagnon, L., Giesbrecht, G.F., Goonewardene, L., Johnston, D., Kooistra, L., Letourneau, N., Manca, D.P., Martin, J.W., McCargar, L.J., O'Beirne, M., Pop, V.J., Deane, A.J., Singhal, N., Letourneau (current Pi), N., Dewey, D., Forbes, L., Giesbrecht, G., Lebel, C., Leung, B., McMorris, C., Ross, K.

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Intergenerational transmission of adverse childhood experiences via maternal depression and anxiety and moderation by child sex von Letourneau, N., Dewey, D., Kaplan, B. J., Ntanda, H., Novick, J., Thomas, J. C., Deane, A. J., Leung, B., Pon, K., Giesbrecht, G. F.

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Postnatal BPA is associated with increasing executive function difficulties in preschool children von England-Mason, Gillian, Liu, Jiaying, Martin, Jonathan W., Giesbrecht, Gerald F., Letourneau, Nicole, Dewey, Deborah

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Deficiency of 5‐oxoprolinase in an 8‐year‐old with developmental delay von Bernier, F. P., Snyder, F. F., McLeod, D. R.

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Sexually dimorphic adaptations in basal maternal stress physiology during pregnancy and implications for fetal development von Giesbrecht, Gerald F, Campbell, Tavis, Letourneau, Nicole

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Developmental origins of infant stress reactivity profiles: A multi-system approach von Rash, Joshua A., Thomas, Jenna C., Campbell, Tavis S., Letourneau, Nicole, Granger, Douglas A., Giesbrecht, Gerald F.

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Prenatal bisphenol a exposure and dysregulation of infant hypothalamic-pituitary-adrenal axis function: findings from the APrON cohort study von Giesbrecht, Gerald F, Ejaredar, Maede, Liu, Jiaying, Thomas, Jenna, Letourneau, Nicole, Campbell, Tavis, Martin, Jonathan W, Dewey, Deborah

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Latent trait cortisol (LTC) during pregnancy: Composition, continuity, change, and concomitants von Giesbrecht, Gerald F, Bryce, Crystal I, Letourneau, Nicole, Granger, Douglas A

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