| Whole-genome shotgun assembly and analysis of the genome of Fugu rubripes S Aparicio, J Chapman, E Stupka, N Putnam, J Chia, P Dehal, ... Science 297 (5585), 1301-1310, 2002 | 1879 | 2002 |
| The evolution of vertebrate Toll-like receptors JC Roach, G Glusman, L Rowen, A Kaur, MK Purcell, KD Smith, LE Hood, ... Proceedings of the National Academy of Sciences 102 (27), 9577-9582, 2005 | 1428 | 2005 |
| Analysis of genetic inheritance in a family quartet by whole-genome sequencing JC Roach, G Glusman, AFA Smit, CD Huff, R Hubley, PT Shannon, ... Science 328 (5978), 636-639, 2010 | 1288 | 2010 |
| High functional diversity in Mycobacterium tuberculosis driven by genetic drift and human demography R Hershberg, M Lipatov, PM Small, H Sheffer, S Niemann, S Homolka, ... PLoS biology 6 (12), e311, 2008 | 763 | 2008 |
| Parent-of-origin-specific signatures of de novo mutations JM Goldmann, WSW Wong, M Pinelli, T Farrah, D Bodian, AB Stittrich, ... Nature genetics 48 (8), 935-939, 2016 | 310 | 2016 |
| Endotoxin recognition: in fish or not in fish? DB Iliev, JC Roach, S Mackenzie, JV Planas, FW Goetz FEBS letters 579 (29), 6519-6528, 2005 | 253 | 2005 |
| Kaviar: an accessible system for testing SNV novelty G Glusman, J Caballero, DE Mauldin, L Hood, JC Roach Bioinformatics 27 (22), 3216-3217, 2011 | 241 | 2011 |
| TFCat: the curated catalog of mouse and human transcription factors DL Fulton, S Sundararajan, G Badis, TR Hughes, WW Wasserman, ... Genome biology 10, 1-14, 2009 | 234 | 2009 |
| Comparative genomics of the human and mouse T cell receptor loci G Glusman, L Rowen, I Lee, C Boysen, JC Roach, AFA Smit, K Wang, ... Immunity 15 (3), 337-349, 2001 | 225 | 2001 |
| Uncovering a macrophage transcriptional program by integrating evidence from motif scanning and expression dynamics SA Ramsey, SL Klemm, DE Zak, KA Kennedy, V Thorsson, B Li, ... PLoS computational biology 4 (3), e1000021, 2008 | 224 | 2008 |
| Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes J Schubert, A Siekierska, M Langlois, P May, C Huneau, F Becker, ... Nature genetics 46 (12), 1327-1332, 2014 | 218 | 2014 |
| Conservation of Toll-like receptor signaling pathways in teleost fish MK Purcell, KD Smith, A Aderem, L Hood, JR Winton, JC Roach Comparative Biochemistry and Physiology Part D: Genomics and Proteomics 1 (1 …, 2006 | 210 | 2006 |
| Rare variants in neuronal excitability genes influence risk for bipolar disorder SA Ament, S Szelinger, G Glusman, J Ashworth, L Hou, N Akula, ... Proceedings of the National Academy of Sciences 112 (11), 3576-3581, 2015 | 193 | 2015 |
| Pairwise end sequencing: a unified approach to genomic mapping and sequencing JC Roach, C Boysen, K Wang, L Hood Genomics 26 (2), 345-353, 1995 | 192 | 1995 |
| Mutations in NOTCH1 cause Adams-Oliver syndrome AB Stittrich, A Lehman, DL Bodian, J Ashworth, Z Zong, H Li, P Lam, ... The American Journal of Human Genetics 95 (3), 275-284, 2014 | 186 | 2014 |
| A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51 N Ameziane, P May, A Haitjema, HJ Van De Vrugt, ... Nature communications 6 (1), 8829, 2015 | 176 | 2015 |
| An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge CA Brownstein, AH Beggs, N Homer, B Merriman, TW Yu, KC Flannery, ... Genome biology 15, 1-18, 2014 | 119 | 2014 |
| The molecular evolution of the vertebrate trypsinogens JC Roach, K Wang, L Gan, L Hood Journal of molecular evolution 45, 640-652, 1997 | 118 | 1997 |
| A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data H Hu, JC Roach, H Coon, SL Guthery, KV Voelkerding, RL Margraf, ... Nature biotechnology 32 (7), 663-669, 2014 | 113 | 2014 |
| Human, Canine and Murine BRCA1 Genes: Sequence Comparison Among Species CI Szabo, LA Wagner, LV Francisco, JC Roach, R Argonza, MC King, ... Human molecular genetics 5 (9), 1289-1298, 1996 | 110 | 1996 |
