| Specialized ribosomes: a new frontier in gene regulation and organismal biology S Xue, M Barna Nature reviews Molecular cell biology 13 (6), 355-369, 2012 | 747 | 2012 |
| Ribosome-mediated specificity in Hox mRNA translation and vertebrate tissue patterning N Kondrashov, A Pusic, CR Stumpf, K Shimizu, AC Hsieh, S Xue, ... Cell 145 (3), 383-397, 2011 | 616 | 2011 |
| RNA regulons in Hox 5′ UTRs confer ribosome specificity to gene regulation S Xue, S Tian, K Fujii, W Kladwang, R Das, M Barna Nature 517 (7532), 33-38, 2015 | 305 | 2015 |
| De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development CT Gordon, S Xue, G Yigit, H Filali, K Chen, N Rosin, K Yoshiura, ... Nature genetics 49 (2), 249-255, 2017 | 123 | 2017 |
| Gene-and species-specific Hox mRNA translation by ribosome expansion segments K Leppek, K Fujii, N Quade, TT Susanto, D Boehringer, T Lenarčič, S Xue, ... Molecular cell 80 (6), 980-995. e13, 2020 | 52 | 2020 |
| SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite C Dion, S Roche, C Laberthonnière, N Broucqsault, V Mariot, S Xue, ... Nucleic acids research 47 (6), 2822-2839, 2019 | 50 | 2019 |
| Direct identification of A-to-I editing sites with nanopore native RNA sequencing TA Nguyen, JWJ Heng, P Kaewsapsak, EPL Kok, D Stanojević, H Liu, ... Nature methods 19 (7), 833-844, 2022 | 42 | 2022 |
| FSHD2-and BAMS-associated mutations confer opposing effects on SMCHD1 function AD Gurzau, K Chen, S Xue, W Dai, IS Lucet, TTN Ly, B Reversade, ... Journal of Biological Chemistry 293 (25), 9841-9853, 2018 | 35 | 2018 |
| Cis-regulatory RNA elements that regulate specialized ribosome activity S Xue, M Barna RNA biology 12 (10), 1083-1087, 2015 | 29 | 2015 |
| Loss-of-function mutations in LGI4, a secreted ligand involved in Schwann cell myelination, are responsible for arthrogryposis multiplex congenita S Xue, J Maluenda, F Marguet, M Shboul, L Quevarec, C Bonnard, ... The American Journal of Human Genetics 100 (4), 659-665, 2017 | 28 | 2017 |
| Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy HH Wong, SH Seet, M Maier, A Gurel, RM Traspas, C Lee, S Zhang, ... The American Journal of Human Genetics 108 (7), 1301-1317, 2021 | 12 | 2021 |
| Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome H Khan, AEQ Chong, M Bilal, S Nawaz, Abdullah, S Abbasi, A Hussain, ... Journal of Human Genetics 67 (5), 253-259, 2022 | 8 | 2022 |
| SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease A Tapia del Fierro, B den Hamer, N Benetti, N Jansz, K Chen, T Beck, ... Nature Communications 14 (1), 5466, 2023 | 7 | 2023 |
| AKT signaling modifies the balance between cell proliferation and migration in neural crest cells from patients affected with Bosma arhinia and microphthalmia syndrome C Laberthonnière, EM Novoa-del-Toro, R Chevalier, N Broucqsault, ... Biomedicines 9 (7), 751, 2021 | 7 | 2021 |
| HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring S Xue, TTN Ly, RS Vijayakar, J Chen, J Ng, AS Mathuru, F Magdinier, ... Nature Communications 13 (1), 3583, 2022 | 5 | 2022 |
| A novel variant in AFF3 underlying isolated syndactyly H Khan, G Koh, AEQ Chong, M Zahid, S Hussain, H Ali, W Ahmad, S Xue Clinical Genetics 103 (3), 341-345, 2023 | 2 | 2023 |
| Deep transcriptome profiling reveals limited conservation of A-to-I RNA editing in Xenopus TA Nguyen, JWJ Heng, YT Ng, R Sun, S Fisher, G Oguz, P Kaewsapsak, ... BMC biology 21 (1), 251, 2023 | | 2023 |
| In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype C Laberthonnière, M Delourme, R Chevalier, C Dion, B Ganne, D Hirst, ... Nucleic Acids Research 51 (14), 7269-7287, 2023 | | 2023 |
| RNA regulons in Hox 5'UTRs confer ribosome specificity to gene regulation and embryonic development S Xue University of California, San Francisco, 2014 | | 2014 |
