| Rnq1: an epigenetic modifier of protein function in yeast N Sondheimer, S Lindquist Molecular cell 5 (1), 163-172, 2000 | 611 | 2000 |
| Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test AC Lionel, G Costain, N Monfared, S Walker, MS Reuter, SM Hosseini, ... Genetics in Medicine 20 (4), 435-443, 2018 | 518 | 2018 |
| Polyglutamine aggregates alter protein folding homeostasis in Caenorhabditis elegans SH Satyal, E Schmidt, K Kitagawa, N Sondheimer, S Lindquist, JM Kramer, ... Proceedings of the National Academy of Sciences 97 (11), 5750-5755, 2000 | 475 | 2000 |
| The role of Sis1 in the maintenance of the [RNQ+] prion N Sondheimer, N Lopez, EA Craig, S Lindquist The EMBO journal 20 (10), 2435-2442, 2001 | 241 | 2001 |
| Changes in the middle region of Sup35 profoundly alter the nature of epigenetic inheritance for the yeast prion [PSI+] JJ Liu, N Sondheimer, SL Lindquist Proceedings of the National Academy of Sciences 99 (suppl_4), 16446-16453, 2002 | 190 | 2002 |
| Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy X Gai, D Ghezzi, MA Johnson, CA Biagosch, HE Shamseldin, TB Haack, ... The American Journal of Human Genetics 93 (3), 482-495, 2013 | 157 | 2013 |
| Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing G Costain, R Jobling, S Walker, MS Reuter, M Snell, S Bowdin, RD Cohn, ... European Journal of Human Genetics 26 (5), 740-744, 2018 | 123 | 2018 |
| Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP S Sonney, J Leipzig, MT Lott, S Zhang, V Procaccio, DC Wallace, ... PLoS computational biology 13 (12), e1005867, 2017 | 114 | 2017 |
| Modeling kinetic rate variation in third generation DNA sequencing data to detect putative modifications to DNA bases EE Schadt, O Banerjee, G Fang, Z Feng, WH Wong, X Zhang, A Kislyuk, ... Genome research 23 (1), 129-141, 2013 | 113 | 2013 |
| Neutral mitochondrial heteroplasmy and the influence of aging N Sondheimer, CE Glatz, JE Tirone, MA Deardorff, AM Krieger, ... Human molecular genetics 20 (8), 1653-1659, 2011 | 109 | 2011 |
| Red blood cells homeostatically bind mitochondrial DNA through TLR9 to maintain quiescence and to prevent lung injury MJ Hotz, D Qing, MGS Shashaty, P Zhang, H Faust, N Sondheimer, ... American journal of respiratory and critical care medicine 197 (4), 470-480, 2018 | 108 | 2018 |
| Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation EM McCormick, MT Lott, MC Dulik, L Shen, M Attimonelli, O Vitale, ... Human mutation 41 (12), 2028-2057, 2020 | 97 | 2020 |
| Genomic architecture of autism from comprehensive whole-genome sequence annotation B Trost, B Thiruvahindrapuram, AJS Chan, W Engchuan, ... Cell 185 (23), 4409-4427. e18, 2022 | 82 | 2022 |
| High-dose continuous renal replacement therapy for neonatal hyperammonemia JM Spinale, BL Laskin, N Sondheimer, SJ Swartz, SL Goldstein Pediatric Nephrology 28, 983-986, 2013 | 77 | 2013 |
| G-quadruplex dynamics contribute to regulation of mitochondrial gene expression M Falabella, JE Kolesar, C Wallace, D De Jesus, L Sun, YV Taguchi, ... Scientific reports 9 (1), 5605, 2019 | 76 | 2019 |
| Hepatic oxidant injury and glutathione depletion during total parenteral nutrition in weanling rats RJ Sokol, SF Taylor, MW Devereaux, R Khandwala, NJ Sondheimer, ... American Journal of Physiology-Gastrointestinal and Liver Physiology 270 (4 …, 1996 | 72 | 1996 |
| Transcriptional requirements of the distal heavy-strand promoter of mtDNA O Zollo, V Tiranti, N Sondheimer Proceedings of the National Academy of Sciences 109 (17), 6508-6512, 2012 | 68 | 2012 |
| The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants MS Reuter, S Walker, B Thiruvahindrapuram, J Whitney, I Cohn, ... Cmaj 190 (5), E126-E136, 2018 | 64 | 2018 |
| Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites C Clarke, R Xiao, E Place, Z Zhang, N Sondheimer, M Bennett, M Yudkoff, ... Molecular genetics and metabolism 110 (1-2), 145-152, 2013 | 62 | 2013 |
| A distinctive physiological role for IκBβ in the propagation of mitochondrial respiratory stress signaling G Biswas, W Tang, N Sondheimer, M Guha, S Bansal, NG Avadhani Journal of Biological Chemistry 283 (18), 12586-12594, 2008 | 60 | 2008 |
