| Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders BJ O’Roak, L Vives, W Fu, JD Egertson, IB Stanaway, IG Phelps, G Carvill, ... Science 338 (6114), 1619-1622, 2012 | 1398 | 2012 |
| Detection of ultra-rare mutations by next-generation sequencing MW Schmitt, SR Kennedy, JJ Salk, EJ Fox, JB Hiatt, LA Loeb Proceedings of the National Academy of Sciences 109 (36), 14508-14513, 2012 | 1124 | 2012 |
| Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species KR Bradnam, JN Fass, A Alexandrov, P Baranay, M Bechner, I Birol, ... Gigascience 2 (1), 2047-217X-2-10, 2013 | 794 | 2013 |
| Massively parallel functional dissection of mammalian enhancers in vivo RP Patwardhan, JB Hiatt, DM Witten, MJ Kim, RP Smith, D May, C Lee, ... Nature biotechnology 30 (3), 265-270, 2012 | 597 | 2012 |
| Sequence tag directed subassembly of short sequencing reads into long sequencing reads J Shendure, J Hiatt, R Patwardhan, E Turner US Patent 8,383,345, 2013 | 432 | 2013 |
| The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line A Adey, JN Burton, JO Kitzman, JB Hiatt, AP Lewis, BK Martin, R Qiu, ... Nature 500 (7461), 207-211, 2013 | 404 | 2013 |
| Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation JB Hiatt, CC Pritchard, SJ Salipante, BJ O'Roak, J Shendure Genome research 23 (5), 843-854, 2013 | 393 | 2013 |
| Transcriptome-wide miR-155 binding map reveals widespread noncanonical microRNA targeting GB Loeb, AA Khan, D Canner, JB Hiatt, J Shendure, RB Darnell, ... Molecular cell 48 (5), 760-770, 2012 | 376 | 2012 |
| PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia LA Jansen, GM Mirzaa, GE Ishak, BJ O'Roak, JB Hiatt, WH Roden, ... Brain 138 (6), 1613-1628, 2015 | 360 | 2015 |
| Recurrent de novo mutations implicate novel genes underlying simplex autism risk BJ O'roak, HA Stessman, EA Boyle, KT Witherspoon, B Martin, C Lee, ... Nature communications 5 (1), 5595, 2014 | 350 | 2014 |
| Haplotype-resolved genome sequencing of a Gujarati Indian individual JO Kitzman, AP MacKenzie, A Adey, JB Hiatt, RP Patwardhan, ... Nature biotechnology 29 (1), 59-63, 2011 | 301 | 2011 |
| Evidence for compensatory upregulation of expressed X-linked genes in mammals, Caenorhabditis elegans and Drosophila melanogaster X Deng, JB Hiatt, DK Nguyen, S Ercan, D Sturgill, LDW Hillier, ... Nature genetics 43 (12), 1179-1185, 2011 | 291 | 2011 |
| Activity-enhancing mutations in an E3 ubiquitin ligase identified by high-throughput mutagenesis LM Starita, JN Pruneda, RS Lo, DM Fowler, HJ Kim, JB Hiatt, J Shendure, ... Proceedings of the National Academy of Sciences 110 (14), E1263-E1272, 2013 | 211 | 2013 |
| Error detection in sequence tag directed subassemblies of short sequencing reads J Shendure, J Hiatt, R Patwardhan, E Turner US Patent 8,865,410, 2014 | 199 | 2014 |
| Massively parallel contiguity mapping JA Shendure, JJ Schwartz, AC Adey, CI Lee, JB Hiatt, JO Kitzman, ... US Patent 10,457,936, 2019 | 191 | 2019 |
| Parallel, tag-directed assembly of locally derived short sequence reads JB Hiatt, RP Patwardhan, EH Turner, C Lee, J Shendure Nature methods 7 (2), 119-122, 2010 | 185 | 2010 |
| Automated microfluidic chromatin immunoprecipitation from 2,000 cells AR Wu, JB Hiatt, R Lu, JL Attema, NA Lobo, IL Weissman, MF Clarke, ... Lab on a Chip 9 (10), 1365-1370, 2009 | 118 | 2009 |
| Mammalian X upregulation is associated with enhanced transcription initiation, RNA half-life, and MOF-mediated H4K16 acetylation X Deng, JB Berletch, W Ma, JB Hiatt, WS Noble, J Shendure, CM Disteche Developmental cell 25 (1), 55-68, 2013 | 100 | 2013 |
| Deep sequencing of multiple regions of glial tumors reveals spatial heterogeneity for mutations in clinically relevant genes A Kumar, EA Boyle, M Tokita, AM Mikheev, MC Sanger, E Girard, ... Genome biology 15, 1-9, 2014 | 84 | 2014 |
| MYCN drives chemoresistance in small cell lung cancer while USP7 inhibition can restore chemosensitivity E Grunblatt, N Wu, H Zhang, X Liu, JP Norton, Y Ohol, P Leger, JB Hiatt, ... Genes & Development 34 (17-18), 1210-1226, 2020 | 58 | 2020 |
