Nigel Laing

Research output

Research output per year 2008 2020

• 3 Article
• 1 Chapter
• 1 Review article

Research output per year

Research output per year

Search results

• 2020

  International perspectives on the implementation of reproductive carrier screening

  Delatycki, M. B., Alkuraya, F., Archibald, A., Castellani, C., Cornel, M., Grody, W. W., Henneman, L., Ioannides, A. S., Kirk, E., Laing, N., Lucassen, A., Massie, J., Schuurmans, J., Thong, M-K., van Langen, I. & Zlotogora, J., 1 Feb 2020, In: Prenatal Diagnosis. 40, 3, p. 301-310 10 p.

  Research output: Contribution to journal › Review article › Research › peer-review

  Open Access

  File

  • Internationality
  • Tay-Sachs Disease
  • Cyprus
  • Hemoglobinopathies
  • Malaysia
• 2019

  Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western Australia

  Ong, R., Howting, D., Kamien, B., Harrop, K., Ravenscroft, G., Fietz, M., Pachter, N., Beilby, J. & Laing, N., 1 Jun 2019, In: BMJ Open. 9, 6, e028209.

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

  Open Access

  • Western Australia
  • Cohort Studies
  • Research Ethics Committees
  • Women's Health Services
  • Health
• 2017

  Improved diagnosis and care for rare diseases through implementation of precision public health framework

  Baynam, G., Bowman, F., Lister, K., Walker, C. E., Pachter, N., Boycott, K. M., Gahl, W. A., Kosaki, K., Adachi, T., Ishii, K., Mahede, T., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Broley, S., Schofield, L., Verhoef, H. & 36 others, Groza, T., Zankl, A., Robinson, P. N., Haendel, M., Brudno, M., Mattick, J. S., Dinger, M. E., Roscioli, T., Cowley, M. J., Olry, A., Hanauer, M., Alkuraya, F. S., Taruscio, D., Posada De La Paz, M., Lochmüller, H., Bushby, K., Thompson, R., Hedley, V., Lasko, P., Beilby, J., Tifft, C., Laing, N. G., Julkowska, D., Le Cam, Y., Terry, S. F., Kaufmann, P., Eerola, I., Norstedt, I., Rath, A., Suematsu, M., Groft, S. C., Austin, C. P., Draghia-Akli, R., Weeramanthri, T. S., Molster, C. & Dawkins, H. J. S., 2017, Rare Diseases Epidemiology: Update and Overview. Posada de la Paz, M., Taruscio, D. & Groft, S. C. (eds.). 2nd ed. Switzerland: Springer, p. 55-94 40 p. (Advances in Experimental Medicine and Biology; vol. 1031).

  The University of Western Australia

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › Research

  • Public health
  • Rare Diseases
  • Public Health
  • Health Policy
  • Health
• 2016

  The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service

  Baynam, G., Pachter, N., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Broley, S., Schofield, L., Verhoef, H., Walker, C. E. E., Molster, C., Blackwell, J. M., Tang, D., Lassmann, T., Beilby, J., Laing, N., Murphy, L., Weeramanthri, T. & 1 others, Dawkins, H., 2016, In: Orphanet Journal of Rare Diseases. 11, 7 p., 77.

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

  • Genetic Services
  • Diagnostic Services
  • High-Throughput Nucleotide Sequencing
  • Rare Diseases
  • Western Australia
• 2008

  Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration

  Tsaousidou, M. K., Ouahchi, K., Warner, T. T., Simpson, M. A., Laing, N., Wilkinson, P. A., Madrid, R. E., Patel, H., Hentati, F., Patton, M. A., Hentati, A., Lamont, P., Siddique, T. & Crosby, A. H., 2008, In: The American Journal of Human Genetics. 82, 2, p. 510-515

  The University of Western Australia

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

  • Hereditary Spastic Paraplegia
  • Nerve Degeneration
  • Cytochrome P-450 Enzyme System
  • Motor Neurons
  • Motor Neuron Disease