Laing, Nigel G.
The University of Western Australia · Harry Perkins Institute of Medical Research
5 papers on CoChatORCID 0000-0001-5111-3732
Most cited papers
- Verified
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
Rosen, D. R., Siddique, T., Patterson, D., Figlewicz, D. A., Sapp, P., Hentati, A., Donaldson, D., Goto, J., O'Regan, J. P., Deng, H.-X., et al. (1993) · Nature
Amyotrophic Lateral Sclerosis ResearchGlutathione Transferases and Polymorphisms
Cited by 7,062
- Verified
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Cummings, B. B., Marshall, J. L., Tukiainen, T., Lek, M., Donkervoort, S., Foley, A. R., Bolduc, V., Waddell, L. B., Sandaradura, S. A., O’Grady, G. L., et al. (2017) · Science Translational Medicine
Genomics and Rare DiseasesConnective tissue disorders research
Cited by 831
- Verified
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
Gupta, V. A., Ravenscroft, G., Shaheen, R., Todd, E. J., Swanson, L. C., Shiina, M., Ogata, K., Hsu, C., Clarke, N. F., Darras, B. T., et al. (2013) · The American Journal of Human Genetics
Muscle Physiology and DisordersGenomics and Rare Diseases
Cited by 168
- Verified
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy
Garg, A., O’Rourke, J., Long, C., Doering, J., Ravenscroft, G., Bezprozvannaya, S., Nelson, B. R., Beetz, N., Li, L., Chen, S., et al. (2014) · Journal of Clinical Investigation
Muscle Physiology and DisordersCardiomyopathy and Myosin Studies
Cited by 127
- Verified
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., et al. (2021) · Human Mutation
Genomics and Rare DiseasesCongenital heart defects research
Cited by 25
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