| Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden ZR Chalmers, CF Connelly, D Fabrizio, L Gay, SM Ali, R Ennis, A Schrock, ... Genome medicine 9, 1-14, 2017 | 2900 | 2017 |
| Blood-based tumor mutational burden as a predictor of clinical benefit in non-small-cell lung cancer patients treated with atezolizumab DR Gandara, SM Paul, M Kowanetz, E Schleifman, W Zou, Y Li, ... Nature medicine 24 (9), 1441-1448, 2018 | 1081 | 2018 |
| Global and local architecture of the mammalian microRNA–transcription factor regulatory network R Shalgi, D Lieber, M Oren, Y Pilpel PLoS computational biology 3 (7), e131, 2007 | 610 | 2007 |
| Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing SE Calvo, AG Compton, SG Hershman, SC Lim, DS Lieber, EJ Tucker, ... Science translational medicine 4 (118), 118ra10-118ra10, 2012 | 542 | 2012 |
| Analytical validation of a hybrid capture–based next-generation sequencing clinical assay for genomic profiling of cell-free circulating tumor DNA TA Clark, JH Chung, M Kennedy, JD Hughes, N Chennagiri, DS Lieber, ... The Journal of Molecular Diagnostics 20 (5), 686-702, 2018 | 212 | 2018 |
| Targeted exome sequencing of suspected mitochondrial disorders DS Lieber, SE Calvo, K Shanahan, NG Slate, S Liu, SG Hershman, ... Neurology 80 (19), 1762-1770, 2013 | 195 | 2013 |
| Clinical and analytical validation of FoundationOne®CDx, a comprehensive genomic profiling assay for solid tumors CA Milbury, J Creeden, WK Yip, DL Smith, V Pattani, K Maxwell, ... PLoS One 17 (3), e0264138, 2022 | 127 | 2022 |
| Blood-based biomarkers for cancer immunotherapy: tumor mutational burden in blood (bTMB) is associated with improved atezolizumab (atezo) efficacy in 2L+ NSCLC (POPLAR and OAK) DR Gandara, M Kowanetz, TSK Mok, A Rittmeyer, L Fehrenbacher, ... Annals of Oncology 28, v460, 2017 | 95 | 2017 |
| Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4 GJ Hildick-Smith, JD Cooney, C Garone, LS Kremer, TB Haack, JN Thon, ... The American Journal of Human Genetics 93 (5), 906-914, 2013 | 68 | 2013 |
| Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency DS Lieber, SG Hershman, NG Slate, SE Calvo, KB Sims, ... BMC Medical Genetics 15, 1-6, 2014 | 54 | 2014 |
| Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden. Genome Med. 2017; 9 (1): 34 ZR Chalmers, CF Connelly, D Fabrizio, L Gay, SM Ali, R Ennis, A Schrock, ... | 53 | |
| Large-scale discovery and characterization of protein regulatory motifs in eukaryotes DS Lieber, O Elemento, S Tavazoie PLoS One 5 (12), e14444, 2010 | 45 | 2010 |
| Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease DS Lieber, SB Vafai, LC Horton, NG Slate, S Liu, ML Borowsky, SE Calvo, ... BMC medical genetics 13, 1-7, 2012 | 44 | 2012 |
| A New System for Comparative Functional Genomics of Saccharomyces Yeasts AA Caudy, Y Guan, Y Jia, C Hansen, C DeSevo, AP Hayes, J Agee, ... Genetics 195 (1), 275-287, 2013 | 34 | 2013 |
| A blood-based next-generation sequencing assay to determine tumor mutational burden (bTMB) is associated with benefit to an anti-PD-L1 inhibitor, atezolizumab D Fabrizio, D Lieber, C Malboeuf, J Silterra, E White, M Coyne, T Brennan, ... Cancer Research 78 (13_Supplement), 5706-5706, 2018 | 32 | 2018 |
| The pan-tumor landscape of targetable kinase fusions in circulating tumor DNA JK Lee, M Hazar-Rethinam, B Decker, O Gjoerup, RW Madison, ... Clinical Cancer Research 28 (4), 728-737, 2022 | 23 | 2022 |
| Analytic validation of a next generation sequencing assay to identify tumor mutational burden from blood (bTMB) to support investigation of an anti-PD-L1 agent, atezolizumab … D Fabrizio, C Malboeuf, D Lieber, S Zhong, J He, E White, M Coyne, ... Annals of Oncology 28, v27, 2017 | 21 | 2017 |
| Orthogonal NGS for high throughput clinical diagnostics N Chennagiri, EJ White, A Frieden, E Lopez, DS Lieber, A Nikiforov, ... Scientific Reports 6 (1), 24650, 2016 | 19 | 2016 |
| Validation and clinical feasibility of a comprehensive genomic profiling assay to identify likely immunotherapy responders through tumor mutational burden (TMB) DS Lieber, MR Kennedy, DB Johnson, JE Rosenberg, M Kowanetz, ... Cancer Research 77 (13_Supplement), 2987-2987, 2017 | 5 | 2017 |
| Compositions and methods for evaluating genomic alterations GA Otto, T Clark, D Lipson, D Lieber, D Fabrizio US Patent App. 16/437,974, 2020 | 3 | 2020 |
Vamsi MoothaMassachusetts General Hospital, Harvard Medical School, HHMIVerified email at hms.harvard.edu
