| The next-generation sequencing revolution and its impact on genomics DC Koboldt, KM Steinberg, DE Larson, RK Wilson, ER Mardis Cell 155 (1), 27-38, 2013 | 1372 | 2013 |
| Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly VA Schneider, T Graves-Lindsay, K Howe, N Bouk, HC Chen, PA Kitts, ... Genome research 27 (5), 849-864, 2017 | 1086 | 2017 |
| Microarray-based genomic selection for high-throughput resequencing DT Okou, KM Steinberg, C Middle, DJ Cutler, TJ Albert, ME Zwick Nature methods 4 (11), 907-909, 2007 | 491 | 2007 |
| Discovery and genotyping of structural variation from long-read haploid genome sequence data J Huddleston, MJP Chaisson, KM Steinberg, W Warren, K Hoekzema, ... Genome research 27 (5), 677-685, 2017 | 416 | 2017 |
| Complete haplotype sequence of the human immunoglobulin heavy-chain variable, diversity, and joining genes and characterization of allelic and copy-number variation CT Watson, KM Steinberg, J Huddleston, RL Warren, M Malig, J Schein, ... The American Journal of Human Genetics 92 (4), 530-546, 2013 | 262 | 2013 |
| Extending reference assembly models DM Church, VA Schneider, KM Steinberg, MC Schatz, AR Quinlan, ... Genome biology 16, 1-5, 2015 | 204 | 2015 |
| Grazing protozoa and the evolution of the Escherichia coli O157:H7 Shiga toxin-encoding prophage K Meltz Steinberg, BR Levin Proceedings of the Royal Society B: Biological Sciences 274 (1621), 1921-1929, 2007 | 190 | 2007 |
| Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci EJ Leslie, MA Taub, H Liu, KM Steinberg, DC Koboldt, Q Zhang, ... The American Journal of Human Genetics 96 (3), 397-411, 2015 | 189 | 2015 |
| Exome sequencing of Finnish isolates enhances rare-variant association power AE Locke, KM Steinberg, CWK Chiang, SK Service, AS Havulinna, L Stell, ... Nature 572 (7769), 323-328, 2019 | 175 | 2019 |
| Single haplotype assembly of the human genome from a hydatidiform mole KM Steinberg, VA Schneider, TA Graves-Lindsay, RS Fulton, R Agarwala, ... Genome research 24 (12), 2066-2076, 2014 | 164 | 2014 |
| Structural diversity and African origin of the 17q21. 31 inversion polymorphism KM Steinberg, F Antonacci, PH Sudmant, JM Kidd, CD Campbell, L Vives, ... Nature genetics 44 (8), 872-880, 2012 | 164 | 2012 |
| Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability F Antonacci, MY Dennis, J Huddleston, PH Sudmant, KM Steinberg, ... Nature genetics 46 (12), 1293-1302, 2014 | 136 | 2014 |
| Genomic pathology of SLE-associated copy-number variation at the FCGR2C/FCGR3B/FCGR2B locus M Mueller, P Barros, AS Witherden, AL Roberts, Z Zhang, H Schaschl, ... The American Journal of Human Genetics 92 (1), 28-40, 2013 | 85 | 2013 |
| Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS KM Steinberg, B Yu, DC Koboldt, ER Mardis, R Pamphlett Scientific reports 5 (1), 9124, 2015 | 68 | 2015 |
| Combining Microarray‐based Genomic Selection (MGS) with the Illumina Genome Analyzer Platform to Sequence Diploid Target Regions DT Okou, AE Locke, KM Steinberg, K Hagen, P Athri, AC Shetty, V Patel, ... Annals of human genetics 73 (5), 502-513, 2009 | 59 | 2009 |
| Exome-based mapping and variant prioritization for inherited Mendelian disorders DC Koboldt, DE Larson, LS Sullivan, SJ Bowne, KM Steinberg, ... The American Journal of Human Genetics 94 (3), 373-384, 2014 | 54 | 2014 |
| Comparison of patient and physician perspectives in the management of rheumatoid arthritis: results from global physician-and patient-based surveys A Gibofsky, J Galloway, J Kekow, C Zerbini, M De La Vega, G Lee, ... Health and Quality of Life Outcomes 16, 1-11, 2018 | 48 | 2018 |
| SeqAnt: a web service to rapidly identify and annotate DNA sequence variations AC Shetty, P Athri, K Mondal, VL Horner, KM Steinberg, V Patel, ... BMC bioinformatics 11, 1-8, 2010 | 48 | 2010 |
| Results of a global, patient-based survey assessing the impact of psoriatic arthritis discussed in the context of the Psoriatic Arthritis Impact of Disease (PsAID) questionnaire LC Coates, AM Orbai, VF Azevedo, JC Cappelleri, K Steinberg, R Lippe, ... Health and quality of life outcomes 18, 1-10, 2020 | 42 | 2020 |
| Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder KM Steinberg, D Ramachandran, VC Patel, AC Shetty, DJ Cutler, ... Molecular autism 3, 1-12, 2012 | 35 | 2012 |
