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Lee, R.W., Danson, S. orcid.org/0000-0002-3593-2890, Elliot, M. et al. (8 more authors) (2022) Importance of clinical research for the UK's 10-year cancer plan. The Lancet Oncology. ISSN 1470-2045

Al Khleifat, A., Iacoangeli, A., van Vugt, J.J.F.A. et al. (44 more authors) (2022) Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis. npj Genomic Medicine, 7 (1). 8.

Hop, P.J., Zwamborn, R.A.J., Hannon, E.J. et al. (17 more authors) (2020) Cross-reactive probes on Illumina DNA methylation arrays: a large study on ALS shows that a cautionary approach is warranted in interpreting epigenome-wide association studies. NAR Genomics and Bioinformatics, 2 (4). lqaa105. ISSN 2631-9268

Tazelaar, G.H.P., Boeynaems, S., De Decker, M. et al. (35 more authors) (2020) ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization. Brain Communications, 2 (2). fcaa064. ISSN 2632-1297

Opie-Martin, S., Jones, A., Iacoangeli, A. et al. (9 more authors) (2020) UK case control study of smoking and risk of amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 21 (3-4). pp. 222-227. ISSN 2167-8421

Iacoangeli, A., Al Khleifat, A., Jones, A.R. et al. (10 more authors) (2019) C9orf72 intermediate expansions of 24–30 repeats are associated with ALS. Acta Neuropathologica Communications, 7 (1). 115. ISSN 2051-5960

Farhan, S.M.K., Howrigan, D.P., Abbott, L.E. et al. (32 more authors) (2019) Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. Nature Neuroscience, 22 (12). pp. 1966-1974. ISSN 1097-6256

Al Khleifat, A. orcid.org/0000-0002-7406-9831, Iacoangeli, A. orcid.org/0000-0002-5280-5017, Shatunov, A. et al. (11 more authors) (2019) Telomere length is greater in ALS than in controls: a whole genome sequencing study. Amyotroph Lateral Scler Frontotemporal Degener, 20 (3-4). pp. 229-234. ISSN 2167-8421

Cooper-Knock, J., Moll, T., Ramesh, T. et al. (26 more authors) (2019) Mutations in the glycosyltransferase domain of GLT8D1 are associated with familial amyotrophic lateral sclerosis. Cell Reports, 26 (9). 2298-2306.e5. ISSN 2211-1247

Gkazi, S.A., Troakes, C., Topp, S. et al. (10 more authors) (2019) Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia. Neurobiology of Aging, 73. 229.e5-229.e9. ISSN 0197-4580

de Majo, M., Topp, S.D., Smith, B.N. et al. (30 more authors) (2018) ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function. Neurobiology of Aging, 71. 266.e1-266.e10.

Project, M.A.S.C., van Rheenen, W., Pulit, S.L. et al. (36 more authors) (2018) Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis. European Journal of Human Genetics, 26 (10). pp. 1537-1546. ISSN 1018-4813

Mehta, P.R. orcid.org/0000-0002-0255-407X, Jones, A.R., Opie-Martin, S. et al. (11 more authors) (2018) Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias. Journal of Neurology, Neurosurgery and Psychiatry. ISSN 0022-3050

Tazelaar, G.H.P., Dekker, A.M., van Vugt, J.J.F.A. et al. (28 more authors) (2018) Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort. Neurobiology of Aging. ISSN 0197-4580

Consortium, P.M.A.L.S.S., Veldink, J.H., Shaw, P.J. et al. (32 more authors) (2018) CHCHD10 variants in amyotrophic lateral sclerosis: where Is the evidence? Annals of Neurology , 84 (1). pp. 110-116. ISSN 0364-5134

Westeneng, H.-J., Debray, T.P.A., Visser, A.E. et al. (44 more authors) (2018) Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model. Lancet Neurology, 17 (5). pp. 423-433. ISSN 1474-4422

van Eijk, R.P.A., Jones, A.R., Sproviero, W. et al. (19 more authors) (2017) Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials. Neurology, 89 (18). pp. 1915-1922. ISSN 0028-3878

Smith, B.N., Topp, S.D., Fallini, C. et al. (53 more authors) (2017) Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis. Science Translational Medicine, 9 (388). eaad9157. ISSN 1946-6234

Morgan, S. orcid.org/0000-0002-1734-4710, Shatunov, A., Sproviero, W. et al. (14 more authors) (2017) A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK. Brain. ISSN 0006-8950

McLaughlin, R.L., Schijven, D., van Rheenen, W. et al. (433 more authors) (2017) Genetic correlation between amyotrophic lateral sclerosis and schizophrenia. Nature Communications, 8. 14774.

Kenna, K.P., van Doormaal, P.T.C., Dekker, A.M. et al. (92 more authors) (2016) NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nature Genetics, 48 (9). pp. 1037-1042. ISSN 1061-4036

Stoica, R., Paillusson, S., Gomez‐Suaga, P. et al. (10 more authors) (2016) ALS/FTD‐associated FUS activates GSK‐3β to disrupt the VAPB–PTPIP51 interaction and ER–mitochondria associations. EMBO Reports. e201541726. ISSN 1469-3178

Fogh, I., Lin, K., Tiloca, C. et al. (46 more authors) (2016) Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis. JAMA Neurology, 73 (7). pp. 812-820. ISSN 2168-6149

Gaastra, B., Shatunov, A., Pulit, S. et al. (15 more authors) (2016) Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17 (7-8). pp. 593-599. ISSN 2167-8421

van der Kleij, L.A., Jones, A.R., Steen, I.N. et al. (6 more authors) (2015) Regionality of disease progression predicts prognosis in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration , 16 (7-8). pp. 442-447. ISSN 2167-8421

Smith, L., Cupid, B.C., Dickie, B.G. et al. (4 more authors) (2015) Establishing the UK DNA Bank for motor neuron disease (MND). BMC Genetics, 16. 84. ISSN 1471-2156

Wong, C.H., Topp, S., Gkazi, A.S. et al. (12 more authors) (2015) The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients. Neurobiology of Aging , 36 (10). 2908.e17-2908.e18. ISSN 0197-4580

Lill, C.M., Rengmark, A., Pihlstrøm, L. et al. (49 more authors) (2015) The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease. Alzheimer's and Dementia, 11 (12). pp. 1407-1416. ISSN 1552-5260

Jones, A.R., Troakes, C., King, A. et al. (13 more authors) (2015) Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes. Neurobiology of Aging, 36 (5). 2006.e1-2006.e9. ISSN 0197-4580

Smith, B.N., Ticozzi, N., Fallini, C. et al. (63 more authors) (2014) Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS. Neuron, 84 (2). pp. 324-331. ISSN 0896-6273

Stoica, R., De Vos, K.J., Paillusson, S. et al. (12 more authors) (2014) ER-mitochondria associations are regulated by the VAPB-PTPIP51 interaction and are disrupted by ALS/FTD-associated TDP-43. Nature Communications, 5. 3996 .

Savage, A.L., Wilm, T.P., Khursheed, K. et al. (10 more authors) (2014) An Evaluation of a SVA Retrotransposon in the FUS Promoter as a Transcriptional Regulator and Its Association to ALS. PLOS ONE, 9 (3). e90833. ISSN 1932-6203

Mórotz, G.M., De Vos, K.J., Vagnoni, A. et al. (3 more authors) (2012) Amyotrophic lateral sclerosis-associated mutant VAPBP56S perturbs calcium homeostasis to disrupt axonal transport of mitochondria. Human Molecular Genetics, 21 (9). 1979 - 1988. ISSN 0964-6906

De Vos, K.J., Morotz, G.M., Stoica, R. et al. (6 more authors) (2011) VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis. Human Molecular Genetics, 21 (6). 1299 - 1311. ISSN 0964-6906