| Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus MT Malecki, US Jhala, A Antonellis, L Fields, A Doria, T Orban, M Saad, ... Nature genetics 23 (3), 323-328, 1999 | 836 | 1999 |
| Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V A Antonellis, RE Ellsworth, N Sambuughin, I Puls, A Abel, SQ Lee-Lin, ... The American Journal of Human Genetics 72 (5), 1293-1299, 2003 | 699 | 2003 |
| The role of aminoacyl-tRNA synthetases in genetic diseases A Antonellis, ED Green Annu. Rev. Genomics Hum. Genet. 9, 87-107, 2008 | 403 | 2008 |
| SAP regulates TH2 differentiation and PKC-θ-mediated activation of NF-κB1 JL Cannons, JY Li, B Hill, LA Mijares, D Dombroski, KE Nichols, ... Immunity 21 (5), 693-706, 2004 | 297 | 2004 |
| Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy C Gonzaga-Jauregui, T Harel, T Gambin, M Kousi, LB Griffin, ... Cell reports 12 (7), 1169-1183, 2015 | 243 | 2015 |
| Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy HM McLaughlin, R Sakaguchi, C Liu, T Igarashi, D Pehlivan, K Chu, ... The American Journal of Human Genetics 87 (4), 560-566, 2010 | 227 | 2010 |
| Major susceptibility locus for nephropathy in type 1 diabetes on chromosome 3q: results of novel discordant sib-pair analysis. DK Moczulski, JJ Rogus, A Antonellis, JH Warram, AS Krolewski Diabetes 47 (7), 1164-1169, 1998 | 218 | 1998 |
| Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder AJ Abrams, RB Hufnagel, A Rebelo, C Zanna, N Patel, MA Gonzalez, ... Nature genetics 47 (8), 926-932, 2015 | 209 | 2015 |
| Mutation of melanosome protein RAB38 in chocolate mice SK Loftus, DM Larson, LL Baxter, A Antonellis, Y Chen, X Wu, Y Jiang, ... Proceedings of the National Academy of Sciences 99 (7), 4471-4476, 2002 | 182 | 2002 |
| Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons A Antonellis, SQ Lee-Lin, A Wasterlain, P Leo, M Quezado, LG Goldfarb, ... Journal of Neuroscience 26 (41), 10397-10406, 2006 | 165 | 2006 |
| 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 | 154 | 2017 |
| Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2 M Gonzalez, H McLaughlin, H Houlden, M Guo, L Yo-Tsen, ... Journal of Neurology, Neurosurgery & Psychiatry 84 (11), 1247-1249, 2013 | 149 | 2013 |
| Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations K Sivakumar, T Kyriakides, I Puls, GA Nicholson, B Funalot, A Antonellis, ... Brain 128 (10), 2304-2314, 2005 | 146 | 2005 |
| A Loss‐of‐Function Variant in the Human Histidyl‐tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo A Vester, G Velez‐Ruiz, HM McLaughlin, ... Human mutation 34 (1), 191-199, 2013 | 139 | 2013 |
| An evolutionarily conserved intronic region controls the spatiotemporal expression of the transcription factor Sox10 JR Dutton, A Antonellis, TJ Carney, FSLM Rodrigues, WJ Pavan, A Ward, ... BMC developmental biology 8, 1-20, 2008 | 131 | 2008 |
| Charcot-Marie-Tooth–linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels WW Motley, KL Seburn, MH Nawaz, KE Miers, J Cheng, A Antonellis, ... PLoS genetics 7 (12), e1002399, 2011 | 130 | 2011 |
| Identification of Neural Crest and Glial Enhancers at the Mouse Sox10 Locus through Transgenesis in Zebrafish A Antonellis, JL Huynh, SQ Lee-Lin, RM Vinton, G Renaud, SK Loftus, ... PLoS genetics 4 (9), e1000174, 2008 | 128 | 2008 |
| Direct Interaction of Sox10 with the Promoter of Murine Dopachrome Tautomerase (Dct) and Synergistic Activation of Dct Expression with Mitf Z Jiao, R Mollaaghababa, WJ Pavan, A Antonellis, ED Green, TJ Hornyak Pigment cell research 17 (4), 352-362, 2004 | 126 | 2004 |
| Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect C Simons, LB Griffin, G Helman, G Golas, A Pizzino, M Bloom, ... The American Journal of Human Genetics 96 (4), 675-681, 2015 | 125 | 2015 |
| A Recurrent loss‐of‐function alanyl‐tRNA synthetase (AARS ) mutation in patients with charcot‐marie‐tooth disease type 2N (CMT2N) HM McLaughlin, R Sakaguchi, W Giblin, ... Human mutation 33 (1), 244-253, 2012 | 125 | 2012 |
