| A general framework for estimating the relative pathogenicity of human genetic variants M Kircher, DM Witten, P Jain, BJ O'Roak, GM Cooper, J Shendure Nature genetics 46 (3), 310-315, 2014 | 4091 | 2014 |
| A draft sequence of the Neandertal genome RE Green, J Krause, AW Briggs, T Maricic, U Stenzel, M Kircher, ... science 328 (5979), 710-722, 2010 | 3681 | 2010 |
| Genetic history of an archaic hominin group from Denisova Cave in Siberia D Reich, RE Green, M Kircher, J Krause, N Patterson, EY Durand, B Viola, ... Nature 468 (7327), 1053-1060, 2010 | 1730 | 2010 |
| The complete genome sequence of a Neanderthal from the Altai Mountains K Prüfer, F Racimo, N Patterson, F Jay, S Sankararaman, S Sawyer, ... Nature 505 (7481), 43-49, 2014 | 1670 | 2014 |
| A high-coverage genome sequence from an archaic Denisovan individual M Meyer, M Kircher, MT Gansauge, H Li, F Racimo, S Mallick, ... Science 338 (6104), 222-226, 2012 | 1621 | 2012 |
| Illumina sequencing library preparation for highly multiplexed target capture and sequencing M Meyer, M Kircher Cold Spring Harbor Protocols 2010 (6), pdb. prot5448, 2010 | 1482 | 2010 |
| The evolution of gene expression levels in mammalian organs D Brawand, M Soumillon, A Necsulea, P Julien, G Csárdi, P Harrigan, ... Nature 478 (7369), 343-348, 2011 | 995 | 2011 |
| Deep proteome and transcriptome mapping of a human cancer cell line N Nagaraj, JR Wisniewski, T Geiger, J Cox, M Kircher, J Kelso, S Pääbo, ... Molecular systems biology 7 (1), 548, 2011 | 945 | 2011 |
| CADD: predicting the deleteriousness of variants throughout the human genome P Rentzsch, D Witten, GM Cooper, J Shendure, M Kircher Nucleic acids research 47 (D1), D886-D894, 2019 | 897 | 2019 |
| Double indexing overcomes inaccuracies in multiplex sequencing on the Illumina platform M Kircher, S Sawyer, M Meyer Nucleic acids research 40 (1), e3-e3, 2012 | 767 | 2012 |
| High‐throughput DNA sequencing–concepts and limitations M Kircher, J Kelso Bioessays 32 (6), 524-536, 2010 | 723 | 2010 |
| Cell-free DNA comprises an in vivo nucleosome footprint that informs its tissues-of-origin MW Snyder, M Kircher, AJ Hill, RM Daza, J Shendure Cell 164 (1-2), 57-68, 2016 | 636 | 2016 |
| Denisova admixture and the first modern human dispersals into Southeast Asia and Oceania D Reich, N Patterson, M Kircher, F Delfin, MR Nandineni, I Pugach, ... The American Journal of Human Genetics 89 (4), 516-528, 2011 | 584 | 2011 |
| The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities JX Chong, KJ Buckingham, SN Jhangiani, C Boehm, N Sobreira, ... The American Journal of Human Genetics 97 (2), 199-215, 2015 | 504 | 2015 |
| Ancient gene flow from early modern humans into Eastern Neanderthals M Kuhlwilm, I Gronau, MJ Hubisz, C De Filippo, J Prado-Martinez, ... Nature 530 (7591), 429-433, 2016 | 357 | 2016 |
| Removal of deaminated cytosines and detection of in vivo methylation in ancient DNA AW Briggs, U Stenzel, M Meyer, J Krause, M Kircher, S Pääbo Nucleic acids research 38 (6), e87-e87, 2010 | 342 | 2010 |
| Improved base calling for the Illumina Genome Analyzer using machine learning strategies M Kircher, U Stenzel, J Kelso Genome biology 10 (8), 1-9, 2009 | 330 | 2009 |
| A complete mtDNA genome of an early modern human from Kostenki, Russia J Krause, AW Briggs, M Kircher, T Maricic, N Zwyns, A Derevianko, ... Current Biology 20 (3), 231-236, 2010 | 321 | 2010 |
| Somatic mutations in cerebral cortical malformations SS Jamuar, ATN Lam, M Kircher, AM D’Gama, J Wang, BJ Barry, X Zhang, ... New England Journal of Medicine 371 (8), 733-743, 2014 | 267 | 2014 |
| Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype SL Sawyer, L Tian, M Kähkönen, J Schwartzentruber, M Kircher, ... Cancer discovery 5 (2), 135-142, 2015 | 244 | 2015 |
Jay ShendureProfessor of Genome Sciences, University of WashingtonVerified email at uw.edu
