Genome-wide analyses identify KIF5A as a novel ALS gene A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ... Neuron 97 (6), 1268-1283. e6, 2018 | 576 | 2018 |
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis S Bandres‐Ciga, AJ Noyce, G Hemani, A Nicolas, A Calvo, G Mora, ... Annals of neurology 85 (4), 470-481, 2019 | 162 | 2019 |
Age-related penetrance of the C9orf72 repeat expansion NA Murphy, KC Arthur, PJ Tienari, H Houlden, A Chiò, BJ Traynor Scientific reports 7 (1), 1-7, 2017 | 145 | 2017 |
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases C Blauwendraat, F Faghri, L Pihlstrom, JT Geiger, A Elbaz, S Lesage, ... Neurobiology of aging 57, 247. e9-247. e13, 2017 | 139 | 2017 |
Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types S Saez-Atienzar, S Bandres-Ciga, RG Langston, JJ Kim, SW Choi, ... Science advances 7 (3), eabd9036, 2021 | 65 | 2021 |
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis JO Johnson, R Chia, DE Miller, PJ Tienari, H Laaksovirta, M Valori, ... American Medical Association, 2021 | 54 | 2021 |
Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study R Chia, S Saez-Atienzar, N Murphy, A Chiò, C Blauwendraat, ... Proceedings of the National Academy of Sciences 119 (5), e2108672119, 2022 | 47 | 2022 |
Genetic analysis of neurodegenerative diseases in a pathology cohort C Blauwendraat, O Pletnikova, JT Geiger, NA Murphy, Y Abramzon, ... Neurobiology of aging 76, 214. e1-214. e9, 2019 | 36 | 2019 |
Synthetic chromosome fusion: Effects on mitotic and meiotic genome structure and function J Luo, LA Vale-Silva, AR Raghavan, G Mercy, J Heldrich, X Sun, MK Li, ... Cell Genomics 3 (11), 2023 | 14 | 2023 |
Structural Stability of the coiled-coil domain of Tumor Susceptibility Gene (TSG)-101 JT White, D Toptygin, R Cohen, N Murphy, VJ Hilser Biochemistry 56 (35), 4646-4655, 2017 | 11 | 2017 |
Genomic and Transcriptomic-Wide Analysis Identifies Novel Genetic Risk Loci and Prioritization of Therapies for Myasthenia Gravis R Chia, S Saez-Atienzar, N Murphy, A Chio, C Blauwendraat, RH Roda, ... ANNALS OF NEUROLOGY 90, S28-S29, 2021 | | 2021 |