المؤلفون: Boggs, K, Lynch, F, Ward, M, Bouffler, SE, Ayres, S, Forbes, R, Springer, A, de Silva, MG, Lynch, E, Gallacher, L, Davis, T, Rakonjac, A, Stallard, K, Brett, GR, Stark, Z

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/350126

المؤلفون: McCorkell, G, Nisselle, A, Halton, D, Bouffler, SE, Patel, C, Christodoulou, J, Maher, F, McClaren, B, Brett, GR, Sandaradura, S, Boggs, K, de Silva, MG, Lynch, F, Macciocca, I, Lynch, E, Martyn, M, Best, S, Stark, Z, Gaff, CL

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/350125

المؤلفون: Brett, GR, Ward, A, Bouffler, SE, Palmer, EE, Boggs, K, Lynch, F, Springer, A, Nisselle, A, Stark, Z

المصدر: urn:ISSN:2056-7944 ; npj Genomic Medicine, 7, 1, 61

مصطلحات موضوعية: Human Genome, Genetics, Behavioral and Social Science, Pediatric, Clinical Research, Mental health, 3 Good Health and Well Being

وصف الملف: application/pdf

Relation: http://hdl.handle.net/1959.4/unsworks_85772; https://unsworks.unsw.edu.au/bitstreams/abfad96d-6554-4893-9fef-f6dae5f10ff5/download; https://doi.org/10.1038/s41525-022-00332-x

الاتاحة: http://hdl.handle.net/1959.4/unsworks_85772
https://unsworks.unsw.edu.au/bitstreams/abfad96d-6554-4893-9fef-f6dae5f10ff5/download
https://doi.org/10.1038/s41525-022-00332-x

المؤلفون: Bowman-Smart, H, Vears, DF, Brett, GR, Martyn, M, Stark, Z, Gyngell, C

Relation: pii: 10.1038/s41431-022-01140-8; Bowman-Smart, H., Vears, D. F., Brett, G. R., Martyn, M., Stark, Z. & Gyngell, C. (2022). 'Diagnostic shock': the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning. EUROPEAN JOURNAL OF HUMAN GENETICS, 30 (9), pp.1036-1043. https://doi.org/10.1038/s41431-022-01140-8.; http://hdl.handle.net/11343/316792

الاتاحة: http://hdl.handle.net/11343/316792

المؤلفون: Best, S, Brown, H, Lunke, S, Patel, C, Pinner, J, Barnett, CP, Wilson, M, Sandaradura, SA, McClaren, B, Brett, GR, Braithwaite, J, Stark, Z

Relation: pii: 10.1038/s41525-020-00168-3; Best, S., Brown, H., Lunke, S., Patel, C., Pinner, J., Barnett, C. P., Wilson, M., Sandaradura, S. A., McClaren, B., Brett, G. R., Braithwaite, J. & Stark, Z. (2021). Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level. NPJ GENOMIC MEDICINE, 6 (1), https://doi.org/10.1038/s41525-020-00168-3.; http://hdl.handle.net/11343/272794

الاتاحة: http://hdl.handle.net/11343/272794

المؤلفون: Walsh, M, Bell, KM, Chong, B, Creed, E, Brett, GR, Pope, K, Thorne, NP, Sadedin, S, Georgeson, P, Phelan, DG, Day, T, Taylor, JA, Sexton, A, Lockhart, PJ, Kiers, L, Fahey, M, Macciocca, I, Gaff, CL, Oshlack, A, Yiu, EM, James, PA, Stark, Z, Ryan, MM

Relation: NHMRC/APP1032364; pii: ACN3409; Walsh, M., Bell, K. M., Chong, B., Creed, E., Brett, G. R., Pope, K., Thorne, N. P., Sadedin, S., Georgeson, P., Phelan, D. G., Day, T., Taylor, J. A., Sexton, A., Lockhart, P. J., Kiers, L., Fahey, M., Macciocca, I., Gaff, C. L., Oshlack, A. ,. Ryan, M. M. (2017). Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy. ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 4 (5), pp.318-325. https://doi.org/10.1002/acn3.409.; http://hdl.handle.net/11343/256141

الاتاحة: http://hdl.handle.net/11343/256141

المؤلفون: Helman, G, Compton, AG, Hock, DH, Walkiewicz, M, Brett, GR, Pais, L, Tan, TY, De Paoli-Iseppi, R, Clark, MB, Christodoulou, J, White, SM, Thorburn, DR, Stroud, DA, Stark, Z, Simons, C

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/270162
NHMRC/1072662
NHMRC/1140851
NHMRC/1140906

المؤلفون: Helman, G, Compton, AG, Hock, DH, Walkiewicz, M, Brett, GR, Pais, L, Tan, TY, De Paoli-Iseppi, R, Clark, MB, Christodoulou, J, White, SM, Thorburn, DR, Stroud, DA, Stark, Z, Simons, C

Relation: NHMRC/1072662; NHMRC/1140851; NHMRC/1140906; Helman, G., Compton, A. G., Hock, D. H., Walkiewicz, M., Brett, G. R., Pais, L., Tan, T. Y., De Paoli-Iseppi, R., Clark, M. B., Christodoulou, J., White, S. M., Thorburn, D. R., Stroud, D. A., Stark, Z. & Simons, C. (2020). Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10. HUMAN MUTATION, 42 (1), pp.19-24. https://doi.org/10.1002/humu.24135.; http://hdl.handle.net/11343/270162

الاتاحة: http://hdl.handle.net/11343/270162

المؤلفون: Lunke, S, Eggers, S, Wilson, M, Patel, C, Barnett, CP, Pinner, J, Sandaradura, SA, Buckley, MF, Krzesinski, EI, De Silva, MG, Brett, GR, Boggs, K, Mowat, D, Richmond, CM

مصطلحات موضوعية: Biomedical and clinical sciences, Genetics, Health sciences

Relation: JAMA - Journal of the American Medical Association; Lunke, S; Eggers, S; Wilson, M; Patel, C; Barnett, CP; Pinner, J; Sandaradura, SA; Buckley, MF; Krzesinski, EI; De Silva, MG; Brett, GR; Boggs, K; Mowat, D; Richmond, CM; et al., Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children with Suspected Monogenic Conditions in the Australian Public Health Care System, JAMA - Journal of the American Medical Association, 2020, 323 (24), pp. 2503-2511; http://hdl.handle.net/10072/398754

الاتاحة: http://hdl.handle.net/10072/398754
https://doi.org/10.1001/jama.2020.7671

المؤلفون: Hilary Bowman-Smart, Danya F. Vears, Gemma R. Brett, Melissa Martyn, Zornitza Stark, Christopher Gyngell

المساهمون: Bowman-Smart, H, Vears, DF, Brett, GR, Martyn, M, Stark, Z, Gyngell, C

المصدر: European Journal of Human Genetics. 30:1036-1043

مصطلحات موضوعية: Parents, Genetics & Heredity, Biochemistry & Molecular Biology, paediatric, Science & Technology, Infant, Newborn, Chromosome Mapping, Genetic Counseling, Genomics, rGS, neonatal, genetics research, rapid genomic sequencing, Caregivers, medical ethics, Surveys and Questionnaires, WHOLE-GENOME, Genetics, Humans, Child, Life Sciences & Biomedicine, Genetics (clinical)

وصف الملف: Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e1ded5d941500c103235a627ce67ebe
https://doi.org/10.1038/s41431-022-01140-8