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2025 Journal Article Multi-phase, multi-ethnic GWAS uncovers putative loci in predisposition to elite sprint and power performance, health and diseaseWang, Guan, Fuku, Noriyuki, Miyamoto-Mikami, Eri, Tanaka, Masashi, Miyachi, Motohiko, Murakami, Haruka, Mitchell, Braxton D., Morrison, Errol, Ahmetov, Ildus, Group, Sportgene Research, Generozov, Edward, Filipenko, Maxim L., Gilep, Andrei A., Gineviciene, Valentina, Moran, Colin N., Venckunas, Tomas, Cieszczyk, Pawel, Derave, Wim, Papadimitriou, Ioannis, Garton, Fleur C., Padmanabhan, Sandosh and Pitsiladis, Yannis P. (2025). Multi-phase, multi-ethnic GWAS uncovers putative loci in predisposition to elite sprint and power performance, health and disease. Biology of Sport. doi: 10.5114/biolsport.2025.147015 |
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2023 Journal Article Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variantKatz, Matthew, Waddell, Leigh B., Yuen, Michaela, Bryen, Samantha J., Oates, Emily, Garton, Fleur C., Robertson, Thomas, Henderson, Robert David, Cooper, Sandra T. and McCombe, Pamela A. (2023). Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant. Frontiers in Neurology, 14 1055639, 1055639. doi: 10.3389/fneur.2023.1055639 |
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2022 Journal Article Novel variants of ANO5 in two patients with limb girdle muscular dystrophy: Case ReportKatz, Matthew, Garton, Fleur C., Davis, Mark, Henderson, Robert D. and McCombe, Pamela A. (2022). Novel variants of ANO5 in two patients with limb girdle muscular dystrophy: Case Report. Frontiers in Neurology, 13 868655, 868655. doi: 10.3389/fneur.2022.868655 |
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2022 Journal Article Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALSHop, Paul J., Zwamborn, Ramona A.J., Hannon, Eilis, Shireby, Gemma L., Nabais, Marta F., Walker, Emma M., van Rheenen, Wouter, van Vugt, Joke J.F.A., Dekker, Annelot M., Westeneng, Henk-Jan, Tazelaar, Gijs H.P., van Eijk, Kristel R., Moisse, Matthieu, Baird, Denis, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Ticozzi, Nicola, Ratti, Antonia, Cooper-Knock, Jonathan, Morrison, Karen E., Shaw, Pamela J., Basak, A. Nazli, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Canosa, Antonio, Brunetti, Maura, Grassano, Maurizio, Gotkine, Marc ... Brain MEND Consortium (2022). Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS. Science Translational Medicine, 14 (633) eabj0264, 1-15. doi: 10.1126/scitranslmed.abj0264 |
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2022 Journal Article Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1Restuadi, Restuadi, Steyn, Frederik J., Kabashi, Edor, Ngo, Shyuan T., Cheng, Fei-Fei, Nabais, Marta F., Thompson, Mike J., Qi, Ting, Wu, Yang, Henders, Anjali K., Wallace, Leanne, Bye, Chris R., Turner, Bradley J., Ziser, Laura, Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Schultz, David, Kiernan, Matthew C., van Rheenen, Wouter, van den Berg, Leonard H., Veldink, Jan H., Ophoff, Roel, Gusev, Alexander, Zaitlen, Noah, McRae, Allan F., Henderson, Robert D., Wray, Naomi R., Giacomotto, Jean and Garton, Fleur C. (2022). Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1. Genome Medicine, 14 (1) 7, 7. doi: 10.1186/s13073-021-01006-6 |
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2021 Journal Article Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biologyvan Rheenen, Wouter, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola ... SLAP Consortium (2021). Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nature Genetics, 53 (12), 1636-1648. doi: 10.1038/s41588-021-00973-1 |
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2021 Journal Article Comprehensive cell type decomposition of circulating cell-free DNA with CelFiECaggiano, Christa, Celona, Barbara, Garton, Fleur, Mefford, Joel, Black, Brian L., Henderson, Robert, Lomen-Hoerth, Catherine, Dahl, Andrew and Zaitlen, Noah (2021). Comprehensive cell type decomposition of circulating cell-free DNA with CelFiE. Nature Communications, 12 (1) 2717. doi: 10.1038/s41467-021-22901-x |
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2021 Journal Article Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophreniaRestuadi, Restuadi, Garton, Fleur C., Benyamin, Beben, Lin, Tian, Williams, Kelly L., Vinkhuyzen, Anna, van Rheenen, Wouter, Zhu, Zhihong, Laing, Nigel G., Mather, Karen A., Sachdev, Perminder S., Ngo, Shyuan T., Steyn, Frederik J., Wallace, Leanne, Henders, Anjali K., Visscher, Peter M., Needham, Merrilee, Mathers, Susan, Nicholson, Garth, Rowe, Dominic B., Henderson, Robert D., McCombe, Pamela A., Pamphlett, Roger, Blair, Ian P., Wray, Naomi R. and McRae, Allan F. (2021). Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia. European Journal of Human Genetics, 30 (5), 1-8. doi: 10.1038/s41431-021-00885-y |
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2021 Journal Article Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disordersNabais, Marta F., Laws, Simon M., Lin, Tian, Vallerga, Costanza L., Armstrong, Nicola J., Blair, Ian P., Kwok, John B., Mather, Karen A., Mellick, George D., Sachdev, Perminder S., Wallace, Leanne, Henders, Anjali K., Zwamborn, Ramona A. J., Hop, Paul J., Lunnon, Katie, Pishva, Ehsan, Roubroeks, Janou A. Y., Soininen, Hilkka, Tsolaki, Magda, Mecocci, Patrizia, Lovestone, Simon, Kloszewska, Iwona, Vellas, Bruno, Furlong, Sarah, Garton, Fleur C., Henderson, Robert D., Mathers, Susan, McCombe, Pamela A., Needham, Merrilee ... McRae, Allan F. (2021). Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders. Genome Biology, 22 (1) 90, 1-30. doi: 10.1186/s13059-021-02275-5 |
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2020 Journal Article Genome-wide meta-analysis finds the ACSL5-ZDHHC6 locus is associated with ALS and links weight loss to the disease geneticsIacoangeli, Alfredo, Lin, Tian, Al Khleifat, Ahmad, Jones, Ashley R., Opie-Martin, Sarah, Coleman, Jonathan R.I., Shatunov, Aleksey, Sproviero, William, Williams, Kelly L., Garton, Fleur, Restuadi, Restuadi, Henders, Anjali K., Mather, Karen A., Needham, Merilee, Mathers, Susan, Nicholson, Garth A., Rowe, Dominic B., Henderson, Robert, McCombe, Pamela A., Pamphlett, Roger, Blair, Ian P., Schultz, David, Sachdev, Perminder S., Newhouse, Stephen J., Proitsi, Petroula, Fogh, Isabella, Ngo, Shyuan T., Dobson, Richard J.B., Wray, Naomi R. ... Al-Chalabi, Ammar (2020). Genome-wide meta-analysis finds the ACSL5-ZDHHC6 locus is associated with ALS and links weight loss to the disease genetics. Cell Reports, 33 (4) 108323, 1-9. doi: 10.1016/j.celrep.2020.108323 |
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2020 Journal Article Cardiovascular disease, psychiatric diagnosis and sex‐differences in the multi‐step hypothesis of ALSGarton, Fleur C., Trabjerg, Betina B., Wray, Naomi R. and Agerbo, Esben (2020). Cardiovascular disease, psychiatric diagnosis and sex‐differences in the multi‐step hypothesis of ALS. European Journal of Neurology, 28 (2) ene.14554, 421-429. doi: 10.1111/ene.14554 |
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2020 Journal Article Altered skeletal muscle glucose-fatty acid flux in amyotrophic lateral sclerosisSteyn, Frederik J., Li, Rui, Kirk, Siobhan E., Tefera, Tesfaye W, Xie, Teresa Y., Tracey, Timothy J., Kelk, Dean, Wimberger, Elyse, Garton, Fleur C., Roberts, Llion, Chapman, Sarah E., Coombes, Jeff S., Leevy, W. Matthew, Ferri, Alberto, Valle, Cristiana, René, Frédérique, Loeffler, Jean-Philippe, McCombe, Pamela A., Henderson, Robert D. and Ngo, Shyuan T. (2020). Altered skeletal muscle glucose-fatty acid flux in amyotrophic lateral sclerosis. Brain Communications, 2 (2) fcaa154, fcaa154. doi: 10.1093/braincomms/fcaa154 |
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2020 Journal Article What do we know about the variability in survival of patients with amyotrophic lateral sclerosis?McCombe, Pamela A., Garton, Fleur C., Katz, Matthew, Wray, Naomi R. and Henderson, Robert D. (2020). What do we know about the variability in survival of patients with amyotrophic lateral sclerosis?. Expert Review of Neurotherapeutics, 20 (9), 921-941. doi: 10.1080/14737175.2020.1785873 |
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2020 Journal Article Mutations in heat shock protein beta-1 (HSPB1) are associated with a range of clinical phenotypes related to different patterns of motor neuron dysfunction: a case seriesKatz, Matthew, Davis, Mark, Garton, Fleur C., Henderson, Robert, Bharti, Vanda, Wray, Naomi and McCombe, Pamela (2020). Mutations in heat shock protein beta-1 (HSPB1) are associated with a range of clinical phenotypes related to different patterns of motor neuron dysfunction: a case series. Journal of the Neurological Sciences, 413 116809, 116809. doi: 10.1016/j.jns.2020.116809 |
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2020 Journal Article Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosisNabais, Marta F., Lin, Tian, Benyamin, Beben, Williams, Kelly L., Garton, Fleur C., Vinkhuyzen, Anna A. E., Zhang, Futao, Vallerga, Costanza L., Restuadi, Restuadi, Freydenzon, Anna, Zwamborn, Ramona A. J., Hop, Paul J., Robinson, Matthew R., Gratten, Jacob, Visscher, Peter M., Hannon, Eilis, Mill, Jonathan, Brown, Matthew A., Laing, Nigel G., Mather, Karen A., Sachdev, Perminder S., Ngo, Shyuan T., Steyn, Frederik J., Wallace, Leanne, Henders, Anjali K., Needham, Merrilee, Veldink, Jan H., Mathers, Susan, Nicholson, Garth ... Wray, Naomi R. (2020). Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis. npj Genomic Medicine, 5 (1) 10, 1-9. doi: 10.1038/s41525-020-0118-3 |
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2020 Journal Article ALS in Danish Registries : Heritability and links to psychiatric and cardiovascular disordersTrabjerg, Betina B., Garton, Fleur C., van Rheenen, Wouter, Fang, Fang, Henderson, Robert D., Mortensen, Preben Bo, Agerbo, Esben and Wray, Naomi R. (2020). ALS in Danish Registries : Heritability and links to psychiatric and cardiovascular disorders. Neurology Genetics, 6 (2) e398, e398. doi: 10.1212/nxg.0000000000000398 |
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2020 Journal Article Progression and survival of patients with motor neuron disease relative to their fecal microbiotaNgo, Shyuan T., Restuadi, Restuadi, McCrea, Allan F., Van Eijk, Ruben P., Garton, Fleur, Henderson, Robert D., Wray, Naomi R., McCombe, Pamela A. and Steyn, Frederik J. (2020). Progression and survival of patients with motor neuron disease relative to their fecal microbiota. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 21 (7-8), 1-14. doi: 10.1080/21678421.2020.1772825 |
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2018 Journal Article The Effect of ACTN3 Gene Doping on Skeletal Muscle PerformanceGarton, Fleur C., Houweling, Peter J., Vukcevic, Damjan, Meehan, Lyra R., Lee, Fiona X.Z., Lek, Monkol, Roeszler, Kelly N., Hogarth, Marshall W., Tiong, Chrystal F., Zannino, Diana, Yang, Nan, Leslie, Stephen, Gregorevic, Paul, Head, Stewart I., Seto, Jane T. and North, Kathryn N. (2018). The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance. American Journal of Human Genetics, 102 (5), 845-857. doi: 10.1016/j.ajhg.2018.03.009 |
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2018 Journal Article Human cerebral evolution and the clinical syndrome of amyotrophic lateral sclerosisHenderson, Robert D., Garton, Fleur C., Kiernan, Matthew C., Turner, Martin R. and Eisen, Andrew (2018). Human cerebral evolution and the clinical syndrome of amyotrophic lateral sclerosis. JNNP Online, 90 (5), jnnp-2017. doi: 10.1136/jnnp-2017-317245 |
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2018 Journal Article No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletesPapadimitriou, Ioannis D., Lockey, Sarah J., Voisin, Sarah, Herbert, Adam J., Garton, Fleur, Houweling, Peter J., Cieszczyk, Pawel, Maciejewska-Skrendo, Agnieszka, Sawczuk, Marek, Massidda, Myosotis, Calò, Carla Maria, Astratenkova, Irina V., Kouvatsi, Anastasia, Druzhevskaya, Anastasiya M., Jacques, Macsue, Ahmetov, Ildus I., Stebbings, Georgina K., Heffernan, Shane, Day, Stephen H., Erskine, Robert, Pedlar, Charles, Kipps, Courtney, North, Kathryn N., Williams, Alun G. and Eynon, Nir (2018). No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes. BMC Genomics, 19 (1) 13, 1-9. doi: 10.1186/s12864-017-4412-0 |
