Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1
Restuadi, R., Steyn, F.J., Kabashi, E. et al. Genome Med 14, 7 (2022). https://doi.org/10.1186/s13073-021-01006-6
Publications
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen, W., van der Spek, R.A.A., Bakker, M.K. et al. Nat Genet 53, 1636–1648 (2021). https://doi.org/10.1038/s41588-021-00973-1
Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia.
Restuadi, R., Garton, F.C., Benyamin, B. et al. Eur J Hum Genet 30, 532–539 (2022). https://doi.org/10.1038/s41431-021-00885-y
Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders
Nabais, M.F., Laws, S.M., Lin, T. et al. Genome Biol 22, 90 (2021). https://doi.org/10.1186/s13059-021-02275-5
Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus is Associated with ALS and Links Weight Loss to the Disease Genetics.
Iacoangeli, A., Lin, T., Al Khleifat, A., et al. (2020). Cell reports, 33(4), 108323. https://doi.org/10.1016/j.celrep.2020.108323
Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis
Nabais, M.F., Lin, T., Benyamin, B. et al. npj Genom. Med. 5, 10 (2020). https://doi.org/10.1038/s41525-020-0118-3