ePrints

Items where Author is "Bahlo, M"

Up a level
Export as [feed] Atom [feed] RSS 1.0 [feed] RSS 2.0
Group by: Item Type | No Grouping
Jump to: Article
Number of items: 19.

Article

Albers, CA, Stankovich, J, Thomson, RJ, Bahlo, M and Kappen, HJ 2008 , 'Multipoint approximations of identity-by-descent probabilities for accurate linkage analysis of distantly related individuals' , American Journal of Human Genetics, vol. 82, no. 3 , pp. 607-622 , doi: https://doi.org/10.1016/j.ajhg.2007.12.016..

Arthur, AT, Armati, PJ, Bye, C, Kilpatrick, TJ, Foote, SJ, Butzkueven, H, Taylor, BV, Tubridy, N, Marriott, M, Chapman, C, Bahlo, M, Speed, TP and Stankovich, J 2008 , 'Genes implicated in multiple sclerosis pathogenesis from consilience of genotyping and expression profiles in relapse and remission' , BMC Medical Genetics, vol. 9, no. Mar 19 , pp. 17-29 , doi: https://doi.org/10.1186/1471-2350-9-17.

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.

Burfoot, RK, Jensen, CJ, Field, J, Stankovich, J, Varney, MD, Johnson, LJ, Butzkueven, H, Booth, D, Bahlo, M, Tait, BD, Taylor, BV, Speed, TP, Heard, R, Stewart, GJ, Foote, SJ, Kilpatrick, TJ and Rubio, JP 2008 , 'SNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in Tasmanians' , Tissue Antigens, vol. 71, no. 1 , pp. 42-50 , doi: https://doi.org/10.1111/j.1399-0039.2007.00962.x.

Burfoot, RK, Jensen, CJ, Field, J, Stankovich, J, Varney, MD, Johnson, LJ, Butzkueven, H, Booth, D, Bahlo, M, Tait, BD, Taylor, BV, Speed, TP, Heard, R, Stewart, GJ, Foote, SJ, Kilpatrick, TJ and Rubio, JP 2008 , 'SNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in Tasmanians' , Tissue Antigens, vol. 71, no. 1 , pp. 42-50 .

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 ORCID: 0000-0002-5441-1732, 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 ORCID: 0000-0002-5441-1732, 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.

Gresle, MM, Jordan, MA, Stankovich, J, Spelman, T, Johnson, LJ, Laverick, L, Hamlett, A, Smith, LD, Jokubaitis, VG, Baker, J, Haartsen, J, Taylor, B, Charlesworth, J ORCID: 0000-0001-6201-3518, Bahlo, M, Speed, TP, Brown, MA, Field, J, Baxter, AG and Butzkueven, H 2020 , 'Multiple sclerosis risk variants regulate gene expression in innate and adaptive immune cells' , Life Science Alliance, vol. 3, no. 7 , pp. 1-11 , doi: https://doi.org/10.26508/lsa.202000650.

Husain, S, Yildirim-Toruner, C, Rubio, JP, Field, J, Kilpatrick, TJ, Foote, SJ, Butzkueven, H, Taylor, BV, Tubridy, N, Marriott, M, Chapman, C, Bahlo, M, Speed, T and Stankovich, J 2008 , 'Variants of ST8SIA1 are associated with risk of developing multiple sclerosis' , PLOS One, vol. 3, no. 7 , e2653 , doi: https://doi.org/10.1371/journal.pone.0002653.

Palencia-Campos, A, Aoto, PC, Machal, EMF, Rivera-Barahona, A, Soto-Bielicka, P, Bertinetti, D, Baker, B, Vu, L, Piceci-Sparascio, F, Torrente, I, Boudin, E, Peeters, S, Van Hul, W, Huber, C, Bonneau, D, Hildebrand, MS, Coleman, M, Bahlo, M, Bennett, MF, Schneider, AL, Scheffer, IE, Kibaek, M, Kristiansen, BS, Issa, MY, Mehrez, MI, Ismail, S, Tenorio, J, Li, G, Skalhegg, BS, Otaify, GA, Temtamy, S, Aglan, M, Jonch, AE, De Luca, A, Mortier, G, Cormier-Daire, V, Ziegler, A, Wallis, M ORCID: 0000-0002-5441-1732, Lapunzina, P, Herberg, FW, Taylor, SS and Ruiz-Perez, VL 2020 , 'Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome' , American Journal of Human Genetics, vol. 107, no. 5 , pp. 977-988 , doi: https://doi.org/10.1016/j.ajhg.2020.09.005.

Rafehi, H, Szmulewicz, DJ, Pope, K, Wallis, M, Christodoulou, J, White, SM, Delatycki, MB, Lockhart, PJ and Bahlo, M 2020 , 'Rapid diagnosis of spinocerebellar ataxia 36 in a three-generation family using short-read whole-genome sequencing data' , Movement Disorders , pp. 1-6 , doi: https://doi.org/10.1002/mds.28105.

Rubio, JP, Bahlo, M, Stankovich, J, Burfoot, RK, Johnson, LJ, Butzkueven, H, Lin, L, Taylor, BV, Speed, TP, Kilpatrick, TJ, Mignot, E and Foote, SJ 2007 , 'Analysis of extended HLA haplotypes in multiple sclerosis and narcolepsy families confirms a predisposing effect for the class I region in Tasmanian MS patients' , Immunogenetics, vol. 59, no. 4 , pp. 177-186 , doi: https://doi.org/10.1007/s00251-006-0183-5.

Rubio, JP, Speed, TP, Kilpatrick, T, Mignot, E, Foote, SJ, Bahlo, M, Stankovich, J, Burfoot, RK, Johnson, LJ, Huxtable, S, Butzkueven, H, Lin, L and Taylor, BV 2007 , 'Analysis of extended HLA haplotypes in multiple sclerosis and narcolepsy families confirms a predisposing effect for the class 1 region in Tasmanian MS patients' , Immunogenetics, vol. 59, no. 3 , pp. 177-186 , doi: https://doi.org/10.1007/s00251-006-0183-5.

Rubio, JP, Stankovich, J, Field, J, Tubridy, N, Marriott, M, Chapman, C, Bahlo, M, Perera, D, Johnson, LJ, Tait, BD, Varney, MD, Speed, TP, Taylor, BV, Foote, SJ, Butzkueven, H and Kilpatrick, TJ 2008 , 'Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians' , Genes and Immunity, vol. 9, no. 7 , pp. 624-630 , doi: https://doi.org/10.1038/gene.2008.59.

Stankovich, J, Cox, CJ, Tan, RB, Montgomery, DS, Huxtable, S, Rubio, JP, Ehm, MG, Johnson, LJ, Butzkueven, H, Kilpatrick, TJ, Speed, TJ, Roses, AD, Bahlo, M and Foote, SJ 2006 , 'On the utility of data from the International HapMap Project for Australian association studies' , Human Genetics, vol. 119, no. 1-2 , pp. 220-222 , doi: https://doi.org/10.1007/s00439-005-0120-y.

Thomson, RJ, Quinn, S, McKay, J, Silver, J, Bahlo, M, FitzGerald, L, Dickinson, J and Stankovich, J , 'The advantages of dense marker sets for linkage analysis with very large families.' , Human Genetics .

Thomson, R, Quinn, SJ, McKay, JD, Silver, J, Bahlo, M, FitzGerald, LM ORCID: 0000-0002-6882-2698, Foote, SJ, Dickinson, JL and Stankovich, J 2007 , 'The advantages of dense marker sets for linkage analysis with very large families' , Human Genetics, vol. 121, no. 3-4 , pp. 459-468 , doi: https://doi.org/10.1007/s00439-007-0323-5.

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.

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.

This list was generated on Thu Jun 1 02:17:16 2023 AEST.
TOP