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.

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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.

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Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping von Amos, J.S., Huang, L., Thevenon, J., Kariminedjad, A., Beaulieu, C.L., Masurel‐Paulet, A., Najmabadi, H., Fattahi, Z., Beheshtian, M., Tonekaboni, S.H., Tang, S., Helbig, K.L., Alcaraz, W., Rivière, J.‐B., Faivre, L., Innes, A.M., Lebel, R.R., Boycott, K.M.

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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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A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders von Innes, AM, Boycott, KM, Puffenberger, EG, Redl, D, MacDonald, IM, Chudley, AE, Beaulieu, C, Perrier, R, Gillan, T, Wade, A, Parboosingh, JS

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Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy von INNES, A. M, SEARGEANT, L. E, BALACHANDRA, K, ROE, C. R, WANDERS, R. J. A, RUITER, J. P. N, CASIRO, O, GREWAR, D. A, GREENBERG, C. R

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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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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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Update on Kleefstra Syndrome von Willemsen, M.H., Vulto-van Silfhout, A.T., Nillesen, W.M., Wissink-Lindhout, W.M., van Bokhoven, H., Philip, N., Berry-Kravis, E.M., Kini, U., van Ravenswaaij-Arts, C.M.A., Delle Chiaie, B., Innes, A.M.M., Houge, G., Kosonen, T., Cremer, K., Fannemel, M., Stray-Pedersen, A., Reardon, W., Ignatius, J., Lachlan, K., Mircher, C., Helderman van den Enden, P.T.J.M., Mastebroek, M., Cohn-Hokke, P.E., Yntema, H.G., Drunat, S., Kleefstra, T.

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Septoplasty with alar battens for the treatment of alar collapse: how we do it von Khalil, H.S., Foxton, C.R., Mitchell-Innes, A.M.

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G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex von Piao, Xianhua, Hill, R. Sean, Bodell, Adria, Chang, Bernard S., Basel-Vanagaite, Lina, Straussberg, Rachel, Dobyns, William B., Qasrawi, Bassam, Winter, Robin M., Innes, A. Micheil, Voit, Thomas, Ross, M. Elizabeth, Michaud, Jacques L., Déscarie, Jean-Claude, Barkovich, A. James, Walsh, Christopher A.

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Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli–Seip syndrome von Dyment, D.A, Gibson, W.T, Huang, L, Bassyouni, H, Hegele, R.A, Innes, A.M

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Teaching in blended learning environments: creating and sustaining communities of inquiry von Vaughan, Norman D, Cleveland-Innes, Martha, Garrison, D. Randy

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Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management von 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.

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ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome von Zak, J, Vives, V, Szumska, D, Vernet, A, Schneider, J E, Miller, P, Slee, E A, Joss, S, Lacassie, Y, Chen, E, Escobar, L F, Tucker, M, Aylsworth, A S, Dubbs, H A, Collins, A T, Andrieux, J, Dieux-Coeslier, A, Haberlandt, E, Kotzot, D, Scott, D A, Parker, M J, Zakaria, Z, Choy, Y S, Wieczorek, D, Innes, A M, Jun, K R, Zinner, S, Prin, F, Lygate, C A, Pretorius, P, Rosenfeld, J A, Mohun, T J, Lu, X

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Optimizing K-12 Education through Online and Blended Learning von Ostashewski, Nathaniel, Howell, Jennifer, Cleveland-Innes, Martha

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Identification of eight novel NSD1 mutations in Sotos syndrome von Kamimura, J, Endo, Y, Kurotaki, N, Kinoshita, A, Miyake, N, Shimokawa, O, Harada, N, Visser, R, Ohashi, H, Miyakawa, K, Gerritsen, J, Innes, A M, Lagace, L, Frydman, M, Okamoto, N, Puttinger, R, Raskin, S, Resic, B, Culic, V, Yoshiura, K, Ohta, T, Kishino, T, Ishikawa, M, Niikawa, N, Matsumoto, N

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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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Asymmetric Crying Facies and Associated Congenital Anomalies: The Contribution of 22q11 Microdeletions von Innes, A. Micheil

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Genetic landmarks through philately: Woodrow Wilson 'Woody' Guthrie and Huntington disease von Innes, AM, Chudley, AE

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