Find Research outputs

Search results

• Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B

  Kamien, B., Clayton, J. S., Lee, H. S., Abeysuriya, D., McNamara, E., Martinovic, J., Gonzales, M., Melki, J. & Ravenscroft, G., May 2022, In: Neuromuscular Disorders. 32, 5, p. 445-449 5 p.

  Research output: Contribution to journal › Article › peer-review

• Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence

  Bonnin, E., Cabochette, P., Filosa, A., Jühlen, R., Komatsuzaki, S., Hezwani, M., Dickmanns, A., Martinelli, V., Vermeersch, M., Supply, L., Martins, N., Pirenne, L., Ravenscroft, G., Lombard, M., Port, S., Spillner, C., Janssens, S., Roets, E., Van Dorpe, J., Lammens, M., & 6 othersKehlenbach, R. H., Ficner, R., Laing, N. G., Hoffmann, K., Vanhollebeke, B. & Fahrenkrog, B., 1 Dec 2018, In: PLoS Genetics. 14, 12, e1007845.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  17 Citations (Scopus)

• Bi-allelic mutations in MYL1 cause a severe congenital myopathy

  Ravenscroft, G., Zaharieva, I. T., Bortolotti, C. A., Lambrughi, M., Pignataro, M., Borsari, M., Sewry, C. A., Phadke, R., Haliloglu, G., Ong, R., Goullée, H., Whyte, T., Consortium, U. K., Manzur, A., Talim, B., Kaya, U., Osborn, D. P. S., Forrest, A. R. R., Laing, N. G. & Muntoni, F., 15 Dec 2018, In: Human Molecular Genetics. 27, 24, p. 4263-4272 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File
  17 Citations (Scopus)

  182 Downloads (Pure)

• Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

  Lake, N. J., Webb, B. D., Stroud, D. A., Richman, T. R., Ruzzenente, B., Compton, A. G., Mountford, H. S., Pulman, J., Zangarelli, C., Rio, M., Bodaert, N., Assouline, Z., Sherpa, M. D., Schadt, E. E., Houten, S. M., Byrnes, J., McCormick, E. M., Zolkipli-Cunningham, Z., Haude, K., Zhang, Z., & 11 othersRetterer, K., Bai, R., Calvo, S. E., Mootha, V. K., Christodoulou, J., Rötig, A., Filipovska, A., Cristian, I., Falk, M. J., Metodiev, M. D. & Thorburn, D. R., 3 Aug 2017, In: American Journal of Human Genetics. 101, 2, p. 239-254 16 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  56 Citations (Scopus)

• Biallelic mutations in MRPS34 lead to instability of the small mitoribosomal subunit and Leigh syndrome

  Lake, N. J., Webb, B. D., Stroud, D. A., Richman, T. R., Ruzzenente, B., Compton, A. G., Mountford, H. S., Pulman, J., Zangarelli, C., Rio, M., Bodaert, N., Assouline, Z., Sherpa, M. D., Schadt, E. E., Houten, S. M., Byrnes, J., McCormick, E. M., Zolkipli-Cunningham, Z., Haude, K., Zhang, Z., & 11 othersRetterer, K., Bai, R., Calvo, S. E., Mootha, V. K., Christodoulou, J., Rotig, A., Filipovska, A., Cristian, I., Falk, M. J., Metodiev, M. D. & Thorburn, D. R., Jul 2019, In: European Journal of Human Genetics. 27, p. 860-861 2 p.

  Research output: Contribution to journal › Abstract/Meeting Abstract › peer-review

• Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

  Arno, G., Carss, K. J., Hull, S., Zihni, C., Robson, A. G., Fiorentino, A., Hardcastle, A. J., Holder, G. E., Cheetham, M. E., Plagnol, V., Moore, A. T., Raymond, F. L., Matter, K., Balda, M. S., Webster, A. R., UK Inherited Retinal Dis, NIHR Bioresource - Rare Dis & Erber, W., 2 Feb 2017, In: American Journal of Human Genetics. 100, 2, p. 334-342 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  16 Citations (Scopus)

• Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects

  Beecroft, S. J., Ayala, M., McGillivray, G., Nanda, V., Agolini, E., Novelli, A., Digilio, M. C., Dotta, A., Carrozzo, R., Clayton, J., Gaffney, L., McLean, C. A., Ng, J., Laing, N. G., Matteson, P., Millonig, J. & Ravenscroft, G., May 2021, In: Human Mutation. 42, 5, p. 506-519 14 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  1 Citation (Scopus)

• Biallelic DICER1 mutations occur in Wilms tumours

  Wu, M. K., Sabbaghian, N., Xu, B., Addidou-Kalucki, S., Bernard, C., Zou, D., Reeve, A. E., Eccles, M. R., Cole, C., Choong, C., Charles, A., Tan, T. Y., Iglesias, D. M., Goodyer, P. R. & Foulkes, W. D., 2013, In: Journal of Pathology. 230, p. 154-164

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File
  97 Citations (Scopus)

  608 Downloads (Pure)

• Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma

  Siggs, O. M., Souzeau, E., Taranath, D. A., Dubowsky, A., Chappell, A., Zhou, T., Javadiyan, S., Nicholl, J., Kearns, L. S., Staffieri, S. E., Narita, A., Smith, J. E. H., Pater, J., Hewitt, A. W., Ruddle, J. B., Elder, J. E., Mackey, D. A., Burdon, K. P. & Craig, J. E., Jun 2020, In: Ophthalmology. 127, 6, p. 758-766 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  20 Citations (Scopus)

• Biacanthus pleuronichthydis (Yamaguti, 1939) gen. n., comb. n. (Copepoda: Taeniacanthidae), an ectoparasite of flatfishes from Japanese waters

  Tang, D. & Izawa, K., 2005, In: Zootaxa. 1071, p. 47-60

  Research output: Contribution to journal › Article › peer-review

  6 Citations (Scopus)

• Bhangra and the reconstruction of 'Punjabi-ness' in multiracial Singapore

  Bal, C. S., 10 Jun 2009, Race and Multiculturalism in Malaysia and Singapore. Netherlands: Routledge, p. 173-190 18 p.

  Research output: Chapter in Book/Conference paper › Chapter › peer-review
  1 Citation (Scopus)

• Bhagavant Kalke and his pioneering work on the bi-leaflet heart valve prothesis

  Saxena, P. & Konstantinov, I., 2009, In: Annals of Thoracic Surgery. 88, p. 344-347

  Research output: Contribution to journal › Letter
  1 Citation (Scopus)

• Bgb-A425, an investigational anti-TIM-3 monoclonal antibody, in combination with tislelizumab, an anti-PD-1 monoclonal antibody, in patients with advanced solid tumors: A phase I/II trial in progress.

  Desai, J., Meniawy, T., Beagle, B., Li, Z., Mu, S., Wu, J., Denlinger, C. S. & Messersmith, W. A., 20 May 2020, In: Journal of Clinical Oncology. 38, 15, 2 p.

  Research output: Contribution to journal › Abstract/Meeting Abstract › peer-review

  2 Citations (Web of Science)

• BGB-A333, an anti-PD-L1 monoclonal antibody, in combination with tislelizumab in patients with urothelial carcinoma

  Martin Liberal, J., Fong, P. C., Moreno, V., Frentzas, S., Desai, J., Meniawy, T., Markman, B., Voskoboynik, M., Budha, N., Wu, J., Shen, W., Singh, M. & Calvo, E., Sep 2020, In: Annals of Oncology. 31, p. S468-S469 2 p.

  Research output: Contribution to journal › Abstract/Meeting Abstract › peer-review

  Open Access
  1 Citation (Web of Science)

• BFV making a trail out west

  Lindsay, M. D. & Johansen, C. A., 1996, In: Microbiology Australia. 17, 2, p. 18

  Research output: Contribution to journal › Article

• BFGF enhances the development of the collateral circulation after acute arterial occlusion

  Chleboun, J. O., Martins, R., Mitchell, C. A. & Chirila, T. V., 1992, In: Biochemical and Biophysical Research Communications. 182, 2, p. 510-516

  Research output: Contribution to journal › Article › peer-review
  53 Citations (Scopus)

• BF_dist: Busy Function fitting

  Westmeier, T., Jurek, R., Obreschkow, D., Koribalski, B. S. & Staveley-Smith, L., 1 Feb 2014

  Research output: Non-traditional research output › Software › peer-review

• Bézier curves and C² interpolation in Riemannian manifolds

  Popiel, T. & Noakes, L., 2007, In: Journal of Approximation Theory. 148, 2, p. 111-127

  Research output: Contribution to journal › Article › peer-review
  52 Citations (Scopus)

• Bezier curve-based generic shape encoder

  Sohel, F., Karmakar, G. C., Dooley, L. S. & Bennamoun, M., 2010, In: IET Image Processing. 4, 2, p. 92-102

  Research output: Contribution to journal › Article › peer-review
  10 Citations (Scopus)

• Bezier Curve-Based Character Descriptor Considering Shape Information

  Sohel, F., Karmakar, G. C. & Dooley, L. S., 2007, The Proceeds of the 6th IEEE/ACIS International Conference on Computer and Information Science, 2007. ICIS 2007.. Lee, R. & Chowdhury, M. U. (eds.). Melbourne, Australia ed. New Jersey, USA: IEEE, Institute of Electrical and Electronics Engineers, Vol. 1. p. 212-216

  Research output: Chapter in Book/Conference paper › Conference paper › peer-review

  1 Citation (Scopus)

• Beyond “just being there”: Teaching internationalization at home in two qualitative methods units

  Baldassar, L. & McKenzie, L., 1 Apr 2016, In: Teaching Sociology. 44, 2, p. 84-95 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File
  18 Citations (Scopus)

  488 Downloads (Pure)

• Beyond Words: Illuminated Manuscripts in Boston Collections

  Burrows, T., 2017, In: PARERGON. 34, 1, p. 172-174 3 p.

  Research output: Contribution to journal › Book/Film/Article review › peer-review

• Beyond Wide Computationalism

  Wilson, R. A., Jan 1996.

  Research output: Contribution to conference › Conference presentation/ephemera

• Beyond understanding: intercultural teacher empathy in the teaching of English as an additional language

  McAlinden, M., 2012, (Unpublished)

  Research output: Thesis › Doctoral Thesis

  File
  689 Downloads (Pure)

• Beyond Trauma: A Multiple Pathways Approach to Auditory Hallucinations in Clinical and Nonclinical Populations

  Luhrmann, T. M., Alderson-Day, B., Bell, V., Bless, J. J., Corlett, P., Hugdahl, K., Jones, N., Laroi, F., Moseley, P., Padmavati, R., Peters, E., Powers, A. R. & Waters, F., 1 Feb 2019, In: Schizophrenia Bulletin. 45, Supplement_1, p. S24-S31 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  34 Citations (Scopus)

• Beyond Traditional Law: Better Native Title Service Provision

  Anderson, J. M., 2004, Crossing Boundaries: Cultural, legal, historical and practice issues in native title. Toussaint, S. (ed.). Carlton, Victoria: Melbourne University Press, p. 58-65

  Research output: Chapter in Book/Conference paper › Chapter › peer-review

• Beyond tit-for-tat: Theorizing divergent employee reactions to customer mistreatment

  Amarnani, R., Bordia, P. & Restubog, S. L. D., 1 Aug 2019, In: Group and Organization Management. 44, 4, p. 687-717 31 p.

  Research output: Contribution to journal › Article › peer-review
  18 Citations (Scopus)

• Beyond the Words: Three Essays on Narrative Disclosure Tone

  Malik, M. F., 2021, (Unpublished)

  Research output: Thesis › Doctoral Thesis

  File
  163 Downloads (Pure)

• Beyond the Verandah¿Elizabeth Jolley's The Orchard Thieves and Drusilla Modjeska's The Orchard

  Dalziell, T., 1997, In: Antipodes. 11, 1, p. 37-40

  Research output: Contribution to journal › Article › peer-review

• Beyond the Unidimensional Account of Suicidal Desire: Examining the Dynamic Balance of the Wish to Live and the Wish to Die in Clinical and Non-Clinical Settings

  Goods, N., 2019, (Unpublished)

  Research output: Thesis › Doctoral Thesis

  File
  38 Downloads (Pure)

• Beyond the teaching Nursing Home: A Community Partnership of Learning and Care

  Saunders, R., Dugmore, H. & Hill, O., 2013, International Congress on Innovations in Nursing. Perth, Vol. -. p. -

  Research output: Chapter in Book/Conference paper › Conference paper

• Beyond the Teaching Nursing Home

  Saunders, R. & Stanley, D., 2014, The Australian Nurse Teachers’ Society e-Bulletin. Australia, p. 13-14

  Research output: Chapter in Book/Conference paper › Other chapter contribution

• Beyond the syntax of the Null Subject Parameter: A look at the discourse-pragmatic distribution of null and overt subjects by L2 learners of Spanish

  Montrul, S. & Rodriguez Louro, C., 2006, The Acquisition of Syntax in Romance Languages. Torrens, V. & Escobar, L. (eds.). Amsterdam/Philadelphia: John Benjamins Publishing Company, p. 401-418

  Research output: Chapter in Book/Conference paper › Chapter › peer-review

• Beyond the social: Cumulative implications of COVID-19 for first nations university students in Australia

  Bennett, R., Uink, B. & Cross, S., 1 Jan 2020, In: Social Sciences & Humanities Open. 2, 1, 100083.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Beyond the Rhetoric of Inclusion: Our Responsibility to Refugees

  Fozdar, F., 2012, Cultures in Refuge: Seeking Sanctuary in Modern Australia. Hayes, A. & Mason, R. (eds.). UK: Ashgate Publishing Limited, p. 49 - 64 (Studies in Migration and Diaspora).

  Research output: Chapter in Book/Conference paper › Chapter › peer-review

  9 Citations (Scopus)

• Beyond The Rhetoric: Planning For The Future University

  Stockport, G., Klobas, J. & Mackintosh, B., 2012, Proceedings of the IADIS International Conference on Higher Education (IHE 2012). Perth, Australia: IADIS Press, Vol. n/a. p. 21-28

  Research output: Chapter in Book/Conference paper › Conference paper › peer-review

• Beyond the rhetoric: how can non-government organisations contribute to reducing health disparities for Aboriginal and Torres Strait Islander people?

  Wood, L., Shilton, T., Dimer, L., Smith, J. & Leahy, T., 2011, In: Australian Journal of Primary Health. 17, p. 384-394

  Research output: Contribution to journal › Article › peer-review
  4 Citations (Scopus)

• Beyond the reactive-proactive dichotomy: Rage, revenge, reward, and recreational aggression predict early high school bully and bully/victim status

  Runions, K. C., Salmivalli, C., Shaw, T., Burns, S. & Cross, D., 1 Sep 2018, In: Aggressive Behavior. 44, 5, p. 501-511 11 p.

  Research output: Contribution to journal › Article › peer-review
  40 Citations (Scopus)

• Beyond the Rayleigh Equation: Reactive Transport Modeling of Isotope Fractionation Effects to Improve Quantification of Biodegradation

  Van Breukelen, B. M. & Prommer, H., 2008, In: Environmental Science & Technology. 42, 7, p. 2457-2463

  Research output: Contribution to journal › Article › peer-review
  76 Citations (Scopus)

• Beyond the production of tourism imaginaries: Student-travellers in Australia and their reception of media representations of their host nation

  Forsey, M. & Low, M., 2014, In: Annals of Tourism Research. 44, 1, p. 156-170

  Research output: Contribution to journal › Article › peer-review
  16 Citations (Scopus)

• Beyond the Port City: Development and Identity in 21st Century Singapore

  Ling, O. G. & Shaw, B., 2004, Singapore: Pearson Merrill Prentice Hall.

  Research output: Book/Report › Book › peer-review

• Beyond the POMS: A Multi-coponent Assessment Model for Training Distress

  Grove, B. & Shepherdson, A., 2005, Promoting Health & Performance for Life. Morris, T., Terry, P., Gordon, S., Hanrahan, S., Ievleva, L., Kolt, G. & Tremayne, P. (eds.). Sydney, Australia ed. Sydney, Australia: International Society of Sports Psychology (ISSP), Vol. 1. p. 1-3

  Research output: Chapter in Book/Conference paper › Conference paper › peer-review

• Beyond the Patent Totem: Australian and Chinese National Innovation Systems in the ‘Asian Century’

  Shao, K., 2016, In: Intellectual Property Quarterly. 3, p. 247-259 13 p.

  Research output: Contribution to journal › Article › peer-review

• Beyond the official statistics: Attitudes to innovation among Italian entrepreneurs

  Klobas, J. & Bielli, P., 2007, Contributing to an Entrepreneurial Society. Heredia-Rosa, V. (ed.). Ljubljana, Slovenia ed. Brussels, Belgium: EFMD, Vol. CD Rom. p. CD Rom

  Research output: Chapter in Book/Conference paper › Conference paper › peer-review

• Beyond the Numbers: Achieving Best Practice in Learning and Teaching

  Flowers, J. & Kosman, B., 2009, Internal & External Quality Assurance: Tensions & Synergies. Group, A. S. R. (ed.). Alice Springs, Australia ed. Melbourne: Australian Universities Quality Agency, Vol. AUQA Occasional Publns no 19. p. 88-93

  Research output: Chapter in Book/Conference paper › Conference paper › peer-review

• Beyond the national: transnational history in Australian schools 1978-2007

  Kuehnel, R., 2012, (Unpublished)

  Research output: Thesis › Doctoral Thesis

  File
  425 Downloads (Pure)

• Beyond the Mist: Ecopaganism, Feminism and Female Agency in Marion Zimmer Bradley's 'The Mists of Avalon'

  Collier, L., 2022, (Accepted/In press) In: Science Fiction: A Review of Speculative Literture.

  Research output: Contribution to journal › Article

• Beyond the Mist: Ecopaganism, Feminism and Female Agency in Marion Zimmer Bradley's The Mists of Avalon

  Collier, L., 2018, (Unpublished)

  Research output: Other contribution

• Beyond the Marsh: Settlement Choice, Perception, and Spatial Decision-making on the Georgia Coastal Plain

  Whitley, T., Moore, I., Goel, G. & Jackson, D., 2010, Making History Interactive. England, Vol. 1. p. 380-390

  Research output: Chapter in Book/Conference paper › Conference paper › peer-review

  Open Access

• Beyond the market: Building Sino Latin American Relations

  Sousa Tenorio, R. (ed.), Tang, Y-T. (ed.), Loo, Y-M. (ed.) & Pino-Ojeda, W. (ed.), 2016, Ningbo: University of Nottingham Ningbo China. (ALAS Monograph Series)

  Research output: Book/Report › Edited book/Anthology