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| Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology W Van Rheenen, RAA Van Der Spek, MK Bakker, JJFA Van Vugt, PJ Hop, ... Nature genetics 53 (12), 1636-1648, 2021 | 275 | 2021 |
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| 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), 1537-1546, 2018 | 132 | 2018 |
| Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein SMK Farhan, DP Howrigan, LE Abbott, JR Klim, SD Topp, AE Byrnes, ... Nature neuroscience 22 (12), 1966-1974, 2019 | 115 | 2019 |
| C9orf72 intermediate expansions of 24–30 repeats are associated with ALS A Iacoangeli, A Al Khleifat, AR Jones, W Sproviero, A Shatunov, ... Acta neuropathologica communications 7, 1-7, 2019 | 100 | 2019 |
| The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public RAA van der Spek, W van Rheenen, SL Pulit, KP Kenna, ... Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 20 (5-6), 432-440, 2019 | 68 | 2019 |
| Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias PR Mehta, AR Jones, S Opie-Martin, A Shatunov, A Iacoangeli, ... Journal of Neurology, Neurosurgery & Psychiatry 90 (3), 268-271, 2019 | 60 | 2019 |
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| Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders J Gilley, O Jackson, M Pipis, MA Estiar, A Al-Chalabi, MC Danzi, ... Elife 10, e70905, 2021 | 51 | 2021 |
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| ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization GHP Tazelaar, S Boeynaems, M De Decker, JJFA van Vugt, L Kool, ... Brain communications 2 (2), fcaa064, 2020 | 48 | 2020 |
| Genome-wide meta-analysis finds the ACSL5-ZDHHC6 locus is associated with ALS and links weight loss to the disease genetics A Iacoangeli, T Lin, A Al Khleifat, AR Jones, S Opie-Martin, JRI Coleman, ... Cell Reports 33 (4), 2020 | 47 | 2020 |
| Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS PJ Hop, RAJ Zwamborn, E Hannon, GL Shireby, MF Nabais, EM Walker, ... Science translational medicine 14 (633), eabj0264, 2022 | 46 | 2022 |
| Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort GHP Tazelaar, AM Dekker, JJFA van Vugt, RA van der Spek, ... Neurobiology of aging 74, 234. e9-234. e15, 2019 | 35 | 2019 |
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| Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis A Al Khleifat, A Iacoangeli, JJFA Van Vugt, H Bowles, M Moisse, ... NPJ genomic medicine 7 (1), 8, 2022 | 30 | 2022 |
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ammar al-chalabiProfessor of Neurology and Complex Disease Genetics, King's College LondonVerified email at kcl.ac.uk
