Items where Author is "Wallis, M"

Brailsford, G, Cash, E, Burke, J, Kirkland, G, Wallis, M, Mallett, A and Jose, MD

2020 , 'Genetic kidney disease in Southern Tasmania' , Kidney international reports, vol. 5, no. 4 , pp. 534-537 , doi: https://doi.org/10.1016/j.ekir.2020.01.015.

Christensen, M, Wallis, M

, Jessup, P, Lemelle, I and Jones, DL

2021 , 'Cryopyrin-associated periodic syndrome: a treatable genetic inflammatory condition' , Practical Neurology , doi: https://doi.org/10.1136/practneurol-2021-002992.

Christensen, M, Wallis, M

, Jessup, P, Lemelle, I and Jones, DL

2021 , 'Cryopyrin-associated periodic syndrome: a treatable genetic inflammatory condition' , Practical Neurology , doi: https://doi.org/10.1136/practneurol-2021-002992.

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.

Jayasinghe, K, Stark, Z, Kerr, PG, Gaff, C, Martyn, M, Whitlam, J, Creighton, B, Donaldson, E, Hunter, M, Jarmolowicz, A, Johnstone, L, Krzesinski, E, Lunke, S, Lynch, E, Nicholls, K, Patel, C, Prawer, Y, Ryan, J, See, EJ, Talbot, A, Trainer, A, Tytherleigh, R, Valente, G, Wallis, M, Wardrop, L, West, KH, White, SM, Wilkins, E, Mallett, AJ and Quinlan, C 2020 , 'Clinical impact of genomic testing in patients with suspected monogenic kidney disease' , Genetics in Medicine , pp. 1-9 , doi: https://doi.org/10.1038/s41436-020-00963-4.

Jayasinghe, K, Stark, Z, Kerr, PG, Gaff, C, Martyn, M, Whitlam, J, Creighton, B, Donaldson, E, Hunter, M, Jarmolowicz, A, Johnstone, L, Krzesinski, E, Lunke, S, Lynch, E, Nicholls, K, Patel, C, Prawer, Y, Ryan, J, See, EJ, Talbot, A, Trainer, A, Tytherleigh, R, Valente, G, Wallis, M

, Wardrop, L, West, KH, White, SM, Wilkins, E, Mallett, AJ and Quinlan, C 2021 , 'Clinical impact of genomic testing in patients with suspected monogenic kidney disease' , Genetics in Medicine, vol. 23, no. 1 , pp. 183-191 , doi: https://doi.org/10.1038/s41436-020-00963-4.

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

, 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.

Ramchand, J, Wallis, M

, Macciocca, I, Lynch, E, Farouque, O, Martyn, M, Phelan, D, Chong, B, Lockwood, S, Weintraub, R, Thompson, Tina, Trainer, A, Zentner, D, Vohra, J, Chetrit, M, Hare, DL and James, P 2020 , 'Prospective evaluation of the utility of whole exome sequencing in dilated cardiomyopathy' , American Heart Association. Journal. Cardiovascular and Cerebrovascular Disease, vol. 9, no. 2 , pp. 1-11 , doi: https://doi.org/10.1161/JAHA.119.013346.

Sachdev, R, Field, M, Baynam, GS, Beilby, J, Berarducci, M, Berman, Y, Boughtwood, T, Cusack, MB, Fitzgerald, V, Fletcher, J, Freckmann, ML, Grainger, N, Kirk, E, Lundie, B, Lunke, S, McGregor, L, Mowat, D, Parasivam, G, Tyrell, V, Wallis, M

, White, SM and S L Ma, A 2021 , 'Paediatric genomic testing: Navigating medicare rebatable genomic testing' , Journal of Paediatrics and Child Health, vol. 57, no. 4 , pp. 477-483 , doi: https://doi.org/10.1111/jpc.15382.

Wallis, M, Pope-Couston, R, Mansour, J, Amor, DJ, Tang, P and Stock-Myer, S 2020 , 'Lymphedema distichiasis syndrome may be caused by FOXC2 promoter-enhancer dissociation and disruption of a topological associated domain' , American Journal of Medical Genetics. Part A , pp. 1-7 , doi: https://doi.org/10.1002/ajmg.a.61935.

Zhang, T, Wallis, M, Petrovic, V, Challis, J, Kalitsis, P and Hudson, DF 2019 , 'Loss of TOP3B leads to increased R-loop formation and genome instability' , Open Biology, vol. 9, no. 12 , pp. 1-15 , doi: https://doi.org/10.1098/rsob.190222.

University of Tasmania

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