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Items where Author is "James, PA"
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Number of items: 6.
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.
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.
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.
Kearton, S, Wills, K ORCID: 0000-0003-3897-2908, Bunting, M, Blomfield, P, James, PA and Burke, J 2017
, 'Cancer risk management in Tasmanian women with BRCA1 and BRCA2 mutations'
, Familial Cancer
, pp. 1-12
, doi: https://doi.org/10.1007/s10689-017-0047-1.
ORCID: 0000-0003-3897-2908, Bunting, M, Blomfield, P, James, PA and Burke, J 2017
, 'Cancer risk management in Tasmanian women with BRCA1 and BRCA2 mutations'
, Familial Cancer
, pp. 1-12
, doi: https://doi.org/10.1007/s10689-017-0047-1.
Lacaze, P, Sebra, R, Riaz, M, Tiller, J, Revote, J, Phung, J, Parker, EJ, Orchard, SG, Lockery, JE, Wolfe, R, Strahl, M, Wang, YC, Chen, R, Sisco, D, Arnold, T, Thompson, BA, Buchanan, DD, Macrae, FA, James, PA, Abhayaratna, WP, Lockett, TJ, Gibbs, P, Tonkin, AM, Nelson, MR ORCID: 0000-0001-9941-7161, Reid, CM, Woods, RL, Murray, AM, Winship, I, McNeil, JJ and Schadt, E 2020
, 'Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals'
, Genetics in Medicine, vol. 22, no. 11
, pp. 1883-1886
, doi: https://doi.org/10.1038/s41436-020-0881-7.
ORCID: 0000-0001-9941-7161, Reid, CM, Woods, RL, Murray, AM, Winship, I, McNeil, JJ and Schadt, E 2020
, 'Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals'
, Genetics in Medicine, vol. 22, no. 11
, pp. 1883-1886
, doi: https://doi.org/10.1038/s41436-020-0881-7.
Pinese, M, Lacaze, P, Rath, EM, Stone, A, Brion, M-J, Ameur, A, Nagpal, S, Puttick, C, Husson, S, Degrave, D, Cristina, TN, Kahl, VFS, Statham, AL, Woods, RL, McNeil, JJ, Riaz, M, Barr, M, Nelson, MR ORCID: 0000-0001-9941-7161, Reid, CM, Murray, AM, Shah, RC, Wolfe, R, Atkins, JR, Fitzsimmons, C, Cairns, HM, Green, MJ, Carr, VJ, Cowley, MJ, Pickett, HA, James, PA, Powell, JE, Kaplan, W, Gibson, G, Gyllensten, U, Cairns, MJ, McNamara, M, Dinger, ME and Thomas, DM 2020
, 'The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly'
, Nature Communications, vol. 11, no. 1
, pp. 1-14
, doi: https://doi.org/10.1038/s41467-019-14079-0.
ORCID: 0000-0001-9941-7161, Reid, CM, Murray, AM, Shah, RC, Wolfe, R, Atkins, JR, Fitzsimmons, C, Cairns, HM, Green, MJ, Carr, VJ, Cowley, MJ, Pickett, HA, James, PA, Powell, JE, Kaplan, W, Gibson, G, Gyllensten, U, Cairns, MJ, McNamara, M, Dinger, ME and Thomas, DM 2020
, 'The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly'
, Nature Communications, vol. 11, no. 1
, pp. 1-14
, doi: https://doi.org/10.1038/s41467-019-14079-0.
Zhang, L, Bao, Y, Riaz, M, Tiller, J, Liew, D, Zhuang, X, Amor, DJ, Huq, A, Petelin, L, Nelson, M ORCID: 0000-0001-9941-7161, James, PA, Winship, I, McNeil, JJ and Lacaze, P 2019
, 'Population genomic screening of all young adults in a health-care system: A cost-effectiveness analysis'
, Genetics in Medicine
, doi: https://doi.org/10.1038/s41436-019-0457-6.
ORCID: 0000-0001-9941-7161, James, PA, Winship, I, McNeil, JJ and Lacaze, P 2019
, 'Population genomic screening of all young adults in a health-care system: A cost-effectiveness analysis'
, Genetics in Medicine
, doi: https://doi.org/10.1038/s41436-019-0457-6.