| Standards and guidelines for validating next-generation sequencing bioinformatics pipelines: a joint recommendation of the Association for Molecular Pathology and the College … S Roy, C Coldren, A Karunamurthy, NS Kip, EW Klee, SE Lincoln, A Leon, ... The Journal of Molecular Diagnostics 20 (1), 4-27, 2018 | 488 | 2018 |
| Integrated genomic characterization reveals novel, therapeutically relevant drug targets in FGFR and EGFR pathways in sporadic intrahepatic cholangiocarcinoma MJ Borad, MD Champion, JB Egan, WS Liang, R Fonseca, AH Bryce, ... PLoS genetics 10 (2), e1004135, 2014 | 374 | 2014 |
| Preemptive genotyping for personalized medicine: design of the right drug, right dose, right time—using genomic data to individualize treatment protocol SJ Bielinski, JE Olson, J Pathak, RM Weinshilboum, L Wang, KJ Lyke, ... Mayo Clinic Proceedings 89 (1), 25-33, 2014 | 336 | 2014 |
| Distinct epigenetic landscapes underlie the pathobiology of pancreatic cancer subtypes G Lomberk, Y Blum, R Nicolle, A Nair, KS Gaonkar, L Marisa, A Mathison, ... Nature communications 9 (1), 1978, 2018 | 247 | 2018 |
| Maple syrup urine disease: mechanisms and management PR Blackburn, JM Gass, FPE Vairo, KM Farnham, HK Atwal, S Macklin, ... The application of clinical genetics, 57-66, 2017 | 240 | 2017 |
| AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 224 | 2019 |
| Bioinformatics for clinical next generation sequencing GR Oliver, SN Hart, EW Klee Clinical chemistry 61 (1), 124-135, 2015 | 210 | 2015 |
| 3'tag digital gene expression profiling of human brain and universal reference RNA using Illumina Genome Analyzer YW Asmann, EW Klee, EA Thompson, EA Perez, S Middha, AL Oberg, ... BMC genomics 10, 1-11, 2009 | 206 | 2009 |
| Adrenomedullin is up-regulated in patients with pancreatic cancer and causes insulin resistance in β cells and mice G Aggarwal, V Ramachandran, N Javeed, T Arumugam, S Dutta, GG Klee, ... Gastroenterology 143 (6), 1510-1517. e1, 2012 | 201 | 2012 |
| Genome-wide detection of tandem DNA repeats that are expanded in autism B Trost, W Engchuan, CM Nguyen, B Thiruvahindrapuram, E Dolzhenko, ... Nature 586 (7827), 80-86, 2020 | 200 | 2020 |
| Preemptive pharmacogenomic testing for precision medicine: a comprehensive analysis of five actionable pharmacogenomic genes using next-generation DNA sequencing and a … Y Ji, JM Skierka, JH Blommel, BE Moore, DL VanCuyk, JK Bruflat, ... The Journal of Molecular Diagnostics 18 (3), 438-445, 2016 | 193 | 2016 |
| Sentieon DNASeq variant calling workflow demonstrates strong computational performance and accuracy KI Kendig, S Baheti, MA Bockol, TM Drucker, SN Hart, JR Heldenbrand, ... Frontiers in genetics 10, 736, 2019 | 188 | 2019 |
| Genomic and phenotypic characterization of a broad panel of patient-derived xenografts reflects the diversity of glioblastoma RA Vaubel, S Tian, D Remonde, MA Schroeder, AC Mladek, GJ Kitange, ... Clinical Cancer Research 26 (5), 1094-1104, 2020 | 180 | 2020 |
| Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development AL Lennox, ML Hoye, R Jiang, BL Johnson-Kerner, LA Suit, ... Neuron 106 (3), 404-420. e8, 2020 | 179 | 2020 |
| Global methylation profiling for risk prediction of prostate cancer S Mahapatra, EW Klee, CYF Young, Z Sun, RE Jimenez, GG Klee, ... Clinical cancer research 18 (10), 2882-2895, 2012 | 165 | 2012 |
| Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies S Masnada, UBS Hedrich, E Gardella, J Schubert, C Kaiwar, EW Klee, ... Brain 140 (9), 2337-2354, 2017 | 162 | 2017 |
| Bi-allelic alterations in AEBP1 lead to defective collagen assembly and connective tissue structure resulting in a variant of Ehlers-Danlos syndrome PR Blackburn, Z Xu, KE Tumelty, RW Zhao, WJ Monis, KG Harris, ... The American Journal of Human Genetics 102 (4), 696-705, 2018 | 160 | 2018 |
| Confirming variants in next-generation sequencing panel testing by Sanger sequencing LM Baudhuin, SA Lagerstedt, EW Klee, N Fadra, D Oglesbee, MJ Ferber The Journal of Molecular Diagnostics 17 (4), 456-461, 2015 | 152 | 2015 |
| Zebrafish: a model for the study of addiction genetics EW Klee, H Schneider, KJ Clark, MA Cousin, JO Ebbert, WM Hooten, ... Human genetics 131, 977-1008, 2012 | 148 | 2012 |
| Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans HC Lu, Q Tan, MWC Rousseaux, W Wang, JY Kim, R Richman, YW Wan, ... Nature genetics 49 (4), 527-536, 2017 | 144 | 2017 |
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