Items where Author is "Berkovic, SF"

Berkovic, SF, Dibbens, LM, Oshlack, A, Silver, JD, Katerelos, M, Vears, DF, Lullmann-Rauch, R, Blanz, J, Zhang, KW, Stankovich, J, Kalnins, RM, Dowling, JP, Andermann, E, Andermann, F, Faldini, E, D'Hooge, R, Vadlamudi, L, Macdonell, RA, Hodgson, BL, Bayly, MA, Savige, J, Mulley, JC, Smyth, GK, Power, DA, Saftig, P and Bahlo, M 2008 , 'Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis' , American Journal of Human Genetics, vol. 82, no. 3 , pp. 673-684 , doi: https://doi.org/10.1016/j.ajhg.2007.12.019.

Eratne, D, Schneider, A, Lynch, E, Martyn, M, Velakoulis, D, Fahey, M, Kwan, P, Leventer, R, Rafehi, H, Chong, B, Stark, Z, Lunke, S, Phelan, DG, O'Keefe, M, Siemering, K, West, K, Sexton, A, Jarmolowicz, A, Taylor, JA, Schultz, J, Purvis, R, Uebergang, E, Chalinor, H, Creighton, B, Gelfand, N, Saks, T, Prawer, Y, Smagarinsky, Y, Pan, T, Goranitis, I, Ademi, Z, Gaff, C, Huq, A, Walsh, M, James, PA, Krzesinski, EI, Wallis, M

, Stutterd, CA, Bahlo, M, Delatycki, MB and Berkovic, SF 2021 , 'The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective' , Journal of the Neurological Sciences, vol. 420 , doi: https://doi.org/10.1016/j.jns.2020.117260.

Eratne, D, Schneider, A, Lynch, E, Martyn, M, Velakoulis, D, Fahey, M, Kwan, P, Leventer, R, Rafehi, H, Chong, B, Stark, Z, Lunke, S, Phelan, DG, O'Keefe, M, Siemering, K, West, K, Sexton, A, Jarmolowicz, A, Taylor, JA, Schultz, J, Purvis, R, Uebergang, E, Chalinor, H, Creighton, B, Gelfand, N, Saks, T, Prawer, Y, Smagarinsky, Y, Pan, T, Goranitis, I, Ademi, Z, Gaff, C, Huq, A, Walsh, M, James, PA, Krzesinski, EI, Wallis, M

, Stutterd, CA, Bahlo, M, Delatycki, MB and Berkovic, SF 2021 , 'The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective' , Journal of the Neurological Sciences, vol. 420 , doi: https://doi.org/10.1016/j.jns.2020.117260.

Hamdan, FF, Myers, CT, Cossette, P, Lemay, P, Spiegelman, D, Laporte, AD, Nassif, C, Diallo, O, Monlong, J, Cadieux-Dion, M, Dobrzeniecka, S, Meloche, C, Retterer, K, Cho, MT, Rosenfeld, JA, Bi, W, Massicotte, C, Miguet, M, Brunga, L, Regan, BM, Mo, K, Tam, C, Schneider, A, Hollingsworth, G, FitzPatrick, DR, Donaldson, A, Canham, N, Blair, E, Kerr, B, Fry, AE, Thomas, RH, Shelagh, J, Hurst, JA, Brittain, H, Blyth, M, Lebel, RR, Gerkes, EH, Davis-Keppen, L, Stein, Q, Chung, WK, Dorison, SJ, Benke, PJ, Fassi, E, Corsten-Janssen, N, Kamsteeg, EJ, Mau-Them, FT, Bruel, AL, Verloes, A, A unap, K, Wojcik, MH, Albert, DVF, Venkateswaran, S, Ware, T, Jones, D, Liu, YC, Mohammad, SS, Bizargity, P, Bacino, CA, Leuzzi, V, Martinelli, S, Dallapiccola, B, Tartaglia, M, Blumkin, L, Wierenga, KJ, Purcarin, G, O'Byrne, JJ, Stockler, S, Lehman, A, Keren, B, Nougues, MC, Mignot, C, Auvin, S, Nava, C, Hiatt, SM, Bebin, M, Shao, Y, Scaglia, F, Lalani, SR, Frye, RE, Jarjour, IT, Jacques, S, Boucher, RM, Riou, E, Srour, M, Carmant, L, Lortie, A, Major, P, Diadori, P, Dubeau, F, D'Anjou, G, Bourque, G, Berkovic, SF, Sadleir, LG, Campeau, PM, Kibar, Z, LafreniA re, RG, Girard, SL, Mercimek-Mahmutoglu, S, Boelman, C and Rouleau, GA 2017 , 'High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies' , American journal of human genetics, vol. 101, no. 5 , pp. 664-685 , doi: https://doi.org/10.1016/j.ajhg.2017.09.008.

Hamdan, FF, Myers, CT, Cossette, P, Lemay, P, Spiegelman, D, Laporte, AD, Nassif, C, Diallo, O, Monlong, J, Cadieux-Dion, M, Dobrzeniecka, S, Meloche, C, Retterer, K, Cho, MT, Rosenfeld, JA, Bi, W, Massicotte, C, Miguet, M, Brunga, L, Regan, BM, Mo, K, Tam, C, Schneider, A, Hollingsworth, G, FitzPatrick, DR, Donaldson, A, Canham, N, Blair, E, Kerr, B, Fry, AE, Thomas, RH, Shelagh, J, Hurst, JA, Brittain, H, Blyth, M, Lebel, RR, Gerkes, EH, Davis-Keppen, L, Stein, Q, Chung, WK, Dorison, SJ, Benke, PJ, Fassi, E, Corsten-Janssen, N, Kamsteeg, EJ, Mau-Them, FT, Bruel, AL, Verloes, A, A unap, K, Wojcik, MH, Albert, DVF, Venkateswaran, S, Ware, T, Jones, D

, Liu, YC, Mohammad, SS, Bizargity, P, Bacino, CA, Leuzzi, V, Martinelli, S, Dallapiccola, B, Tartaglia, M, Blumkin, L, Wierenga, KJ, Purcarin, G, O'Byrne, JJ, Stockler, S, Lehman, A, Keren, B, Nougues, MC, Mignot, C, Auvin, S, Nava, C, Hiatt, SM, Bebin, M, Shao, Y, Scaglia, F, Lalani, SR, Frye, RE, Jarjour, IT, Jacques, S, Boucher, RM, Riou, E, Srour, M, Carmant, L, Lortie, A, Major, P, Diadori, P, Dubeau, F, D'Anjou, G, Bourque, G, Berkovic, SF, Sadleir, LG, Campeau, PM, Kibar, Z, LafreniA re, RG, Girard, SL, Mercimek-Mahmutoglu, S, Boelman, C and Rouleau, GA 2017 , 'High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies' , American journal of human genetics, vol. 101, no. 5 , pp. 664-685 , doi: https://doi.org/10.1016/j.ajhg.2017.09.008.

Shoubridge, C, Jackson, M, Grinton, B, Berkovic, SF, Scheffer, IE, Huskins, S, Thomas, A and Ware, T 2019 , 'Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy' , American Journal of Medical Genetics, Part A, vol. 179, no. 8 , pp. 1483-1490 , doi: https://doi.org/10.1002/ajmg.a.61216.

Ware, TL, Huskins, SR, Grinton, BE, Liu, YC, Bennett, MF, Harvey, M, McMahon, J, Andreopoulos-Malikotsinas, D, Bahlo, M, Howell, KB, Hildebrand, MS, Damiano, JA, Rosenfeld, A, Mackay, MT, Mandelstam, S, Leventer, RJ, Harvey, AS, Freeman, JL, Scheffer, IE, Jones, DL and Berkovic, SF 2019 , 'Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania' , Epilepsia Open, vol. 4, no. 3 , pp. 504-510 , doi: https://doi.org/10.1002/epi4.12350.

University of Tasmania

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