| Comprehensive molecular characterization of human colon and rectal cancer Cancer Genome Atlas Network Nature 487 (7407), 330, 2012 | 7382 | 2012 |
| Comprehensive genomic characterization of squamous cell lung cancers Cancer Genome Atlas Research Network Nature 489 (7417), 519, 2012 | 3642 | 2012 |
| Pan-cancer analysis of whole genomes Nature 578 (7793), 82-93, 2020 | 1653* | 2020 |
| Toil enables reproducible, open source, big biomedical data analyses J Vivian, AA Rao, FA Nothaft, C Ketchum, J Armstrong, A Novak, J Pfeil, ... Nature biotechnology 35 (4), 314-316, 2017 | 987 | 2017 |
| Genomics in the cloud: using Docker, GATK, and WDL in Terra GA Van der Auwera, BD O'Connor O'Reilly Media, 2020 | 930 | 2020 |
| New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing A Keller, A Graefen, M Ball, M Matzas, V Boisguerin, F Maixner, ... Nature communications 3 (1), 698, 2012 | 580 | 2012 |
| U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line MJ Clark, N Homer, BD O'Connor, Z Chen, A Eskin, H Lee, B Merriman, ... PLoS genetics 6 (1), e1000832, 2010 | 386 | 2010 |
| Mutations in PYCR1 cause cutis laxa with progeroid features B Reversade, N Escande-Beillard, A Dimopoulou, B Fischer, SC Chng, ... Nature genetics 41 (9), 1016-1021, 2009 | 260 | 2009 |
| The genomics of disulfide bonding and protein stabilization in thermophiles M Beeby, BD O'Connor, C Ryttersgaard, DR Boutz, LJ Perry, TO Yeates PLoS biology 3 (9), e309, 2005 | 228 | 2005 |
| Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1 DR Goudie, M D'Alessandro, B Merriman, H Lee, I Szeverényi, S Avery, ... Nature genetics 43 (4), 365-369, 2011 | 175 | 2011 |
| GA4GH: International policies and standards for data sharing across genomic research and healthcare HL Rehm, AJH Page, L Smith, JB Adams, G Alterovitz, LJ Babb, ... Cell genomics 1 (2), 2021 | 130 | 2021 |
| SeqWare Query Engine: storing and searching sequence data in the cloud BD O’Connor, B Merriman, SF Nelson BMC bioinformatics 11, 1-9, 2010 | 120 | 2010 |
| Genomics in the cloud: using Docker, GATK, and WDL in Terra GA Auwera, BD O'Connor (No Title), 2020 | 113 | 2020 |
| Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling J Tian, L Ling, M Shboul, H Lee, B O'Connor, B Merriman, SF Nelson, ... The American Journal of Human Genetics 87 (6), 768-778, 2010 | 108 | 2010 |
| Pathogenicity of a disease-associated human IL-4 receptor allele in experimental asthma R Tachdjian, C Mathias, S Al Khatib, PJ Bryce, HS Kim, F Blaeser, ... Journal of Experimental Medicine 206 (10), 2191-2204, 2009 | 101 | 2009 |
| The Dockstore: enabling modular, community-focused sharing of Docker-based genomics tools and workflows BD O'Connor, D Yuen, V Chung, AG Duncan, XK Liu, J Patricia, B Paten, ... F1000Research 6, 2017 | 87 | 2017 |
| Inverting the model of genomics data sharing with the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space MC Schatz, AA Philippakis, E Afgan, E Banks, VJ Carey, RJ Carroll, ... Cell Genomics 2 (1), 2022 | 86 | 2022 |
| Celsius: a community resource for Affymetrix microarray data A Day, MRJ Carlson, J Dong, BD O'Connor, SF Nelson Genome biology 8, 1-13, 2007 | 75 | 2007 |
| Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing H Lee, BD O'Connor, B Merriman, VA Funari, N Homer, Z Chen, DH Cohn, ... BMC genomics 10, 1-12, 2009 | 53 | 2009 |
| Utilizing logical relationships in genomic data to decipher cellular processes PM Bowers, BD O'Connor, SJ Cokus, E Sprinzak, TO Yeates, D Eisenberg The FEBS journal 272 (20), 5110-5118, 2005 | 49 | 2005 |
