| Alternative isoform regulation in human tissue transcriptomes ET Wang, R Sandberg, S Luo, I Khrebtukova, L Zhang, C Mayr, ... Nature 456 (7221), 470-476, 2008 | 5527 | 2008 |
| Comprehensive human genome amplification using multiple displacement amplification FB Dean, S Hosono, L Fang, X Wu, AF Faruqi, P Bray-Ward, Z Sun, ... Proceedings of the National Academy of Sciences 99 (8), 5261-5266, 2002 | 1813 | 2002 |
| Multiplexed protein measurement: technologies and applications of protein and antibody arrays SF Kingsmore Nature reviews Drug discovery 5 (4), 310-321, 2006 | 852 | 2006 |
| Carrier testing for severe childhood recessive diseases by next-generation sequencing CJ Bell, DL Dinwiddie, NA Miller, SL Hateley, EE Ganusova, J Mudge, ... Science translational medicine 3 (65), 65ra4-65ra4, 2011 | 805 | 2011 |
| Immunoassays with rolling circle DNA amplification: a versatile platform for ultrasensitive antigen detection B Schweitzer, S Wiltshire, J Lambert, S O'Malley, K Kukanskis, Z Zhu, ... Proceedings of the National Academy of Sciences 97 (18), 10113-10119, 2000 | 797 | 2000 |
| Multiplexed protein profiling on microarrays by rolling-circle amplification B Schweitzer, S Roberts, B Grimwade, W Shao, M Wang, Q Fu, Q Shu, ... Nature biotechnology 20 (4), 359-365, 2002 | 741 | 2002 |
| Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units CJ Saunders, NA Miller, SE Soden, DL Dinwiddie, A Noll, NA Alnadi, ... Science translational medicine 4 (154), 154ra135-154ra135, 2012 | 645 | 2012 |
| Unbiased whole-genome amplification directly from clinical samples S Hosono, AF Faruqi, FB Dean, Y Du, Z Sun, X Wu, J Du, SF Kingsmore, ... Genome research 13 (5), 954-964, 2003 | 632 | 2003 |
| Identification of the homologous beige and Chediak–Higashi syndrome genes MDFS Barbosa, QA Nguyen, VT Tchernev, JA Ashley, JC Detter, ... Nature 382 (6588), 262-265, 1996 | 592 | 1996 |
| Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis SE Baranzini, J Mudge, JC Van Velkinburgh, P Khankhanian, ... Nature 464 (7293), 1351-1356, 2010 | 542 | 2010 |
| Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations JD Milner, TP Vogel, L Forbes, CA Ma, A Stray-Pedersen, JE Niemela, ... Blood, The Journal of the American Society of Hematology 125 (4), 591-599, 2015 | 518 | 2015 |
| Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders SE Soden, CJ Saunders, LK Willig, EG Farrow, LD Smith, JE Petrikin, ... Science translational medicine 6 (265), 265ra168-265ra168, 2014 | 497 | 2014 |
| Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) W Li, Q Zhang, N Oiso, EK Novak, R Gautam, EP O'Brien, CL Tinsley, ... Nature genetics 35 (1), 84-89, 2003 | 482 | 2003 |
| Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases MM Clark, Z Stark, L Farnaes, TY Tan, SM White, D Dimmock, ... NPJ genomic medicine 3 (1), 16, 2018 | 444 | 2018 |
| An integrated clinico-metabolomic model improves prediction of death in sepsis RJ Langley, EL Tsalik, JC Velkinburgh, SW Glickman, BJ Rice, C Wang, ... Science translational medicine 5 (195), 195ra95-195ra95, 2013 | 441 | 2013 |
| Gene expression signatures diagnose influenza and other symptomatic respiratory viral infections in humans AK Zaas, M Chen, J Varkey, T Veldman, AO Hero, J Lucas, Y Huang, ... Cell host & microbe 6 (3), 207-217, 2009 | 418 | 2009 |
| A highly annotated whole-genome sequence of a Korean individual JI Kim, YS Ju, H Park, S Kim, S Lee, JH Yi, J Mudge, NA Miller, D Hong, ... nature 460 (7258), 1011-1015, 2009 | 382 | 2009 |
| Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings Lancet Respiratory Medicine, 2015 | 347 | 2015 |
| Combining nucleic acid amplification and detection B Schweitzer, S Kingsmore Current opinion in biotechnology 12 (1), 21-27, 2001 | 328 | 2001 |
| Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization L Farnaes, et al NPJ GENOMIC MEDICINE 3, 2018 | 326 | 2018 |
Emily FarrowAssistant Professor, UMKC School of MedicineVerified email at cmh.edu
