| Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease R Meyer-Schuman, A Antonellis Human molecular genetics 26 (R2), R114-R127, 2017 | 155 | 2017 |
| Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models KH Morelli, LB Griffin, NK Pyne, LM Wallace, AM Fowler, SN Oprescu, ... The Journal of clinical investigation 129 (12), 5568-5583, 2019 | 55 | 2019 |
| Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy JA Abbott, R Meyer‐Schuman, V Lupo, S Feely, I Mademan, SN Oprescu, ... Human mutation 39 (3), 415-432, 2018 | 37 | 2018 |
| Cysteinyl-tRNA synthetase mutations cause a multi-system, recessive disease that includes microcephaly, developmental delay, and brittle hair and nails ME Kuo, AF Theil, A Kievit, MC Malicdan, WJ Introne, T Christian, ... The American Journal of Human Genetics 104 (3), 520-529, 2019 | 36 | 2019 |
| MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease J Rips, R Meyer-Schuman, O Breuer, R Tsabari, A Shaag, S Revel-Vilk, ... European journal of medical genetics 61 (10), 616-620, 2018 | 22 | 2018 |
| Bi‐allelic mutations in HARS1 severely impair histidyl‐tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome D Galatolo, ME Kuo, P Mullen, R Meyer‐Schuman, S Doccini, R Battini, ... Human mutation 41 (7), 1232-1237, 2020 | 16 | 2020 |
| A recurrent GARS mutation causes distal hereditary motor neuropathy DC Lee, R Meyer‐Schuman, C Bacon, ME Shy, A Antonellis, SS Scherer Journal of the peripheral nervous system 24 (4), 320-323, 2019 | 14 | 2019 |
| A novel mutation in MARS in a patient with Charcot-Marie-Tooth disease, axonal, type 2U with congenital onset MK Gillespie, HJ McMillan, KD Kernohan, IA Pena, R Meyer-Schuman, ... Journal of neuromuscular diseases 6 (3), 333-339, 2019 | 14 | 2019 |
| Evidence for a dominant‐negative mechanism in HARS1‐mediated peripheral neuropathy R Meyer‐Schuman, A Antonellis The FEBS journal 288 (1), 91-94, 2021 | 7 | 2021 |
| Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1-associated diseases D Beijer, S Marte, JC Li, W De Ridder, JZ Chen, ALD Tadenev, KE Miers, ... Brain communications 6 (2), fcae070, 2024 | 2 | 2024 |
| A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations R Meyer-Schuman, S Marte, TJ Smith, SME Feely, M Kennerson, ... Human molecular genetics 32 (13), 2177-2191, 2023 | 1 | 2023 |
| Predictive modeling provides insight into the clinical heterogeneity associated with TARS1 loss-of-function mutations R Meyer-Schuman, AR Cale, JA Pierluissi, KE Jonatzke, YN Park, ... bioRxiv, 2024.03. 25.586600, 2024 | | 2024 |
| BRAIN COMMUNICATIONS D Beijer, S Marte, JC Li, W De Ridder, JZ Chen, ALD Tadenev, KE Miers, ... | | 2024 |
| Appendix D: A Humanized Yeast Model Reveals Dominant-Negative Properties of Neuropathy-Associated Alanyl-tRNA Synthetase Mutations R Meyer-Schuman, S Marte, T Smith, S Feely, M Kennerson, G Nicholson, ... Modification and Sequence of tRNAs and mRNAs Impact Translational Speed and …, 2022 | | 2022 |
| NARS as a candidate gene in dominant inherited peripheral neuropathies D Beijer, W De Ridder, T Deconinck, R MacDonell, W Marques Jr, ... JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM 25 (4), 482-483, 2020 | | 2020 |
| Allele-specific RNA interference: Precision gene therapy for dominant inherited neuropathy R Burgess, K Morelli, L Griffin, N Pyne, L Wallace, A Fowler, S Oprescu, ... JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM 23 (4), 314-315, 2018 | | 2018 |
| Cover Image, Volume 39, Issue 3 JA Abbott, R Meyer‐Schuman, V Lupo, S Feely, I Mademan, SN Oprescu, ... Human mutation 39 (3), i-i, 2018 | | 2018 |
